Materiały źródłowe

• #1 Turner syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/turner-syndrome/diagnosis-treatment/drc-20360783

  Because symptoms and complications vary, treatments are tailored to address the individual’s specific problems. Evaluation and monitoring for medical or mental health issues associated with Turner syndrome throughout life can help to address problems early. […] The primary treatments for nearly all girls and women with Turner syndrome include hormone therapies: […] Growth hormone therapy usually given daily as an injection of recombinant human growth hormone is typically recommended to increase height as much as possible at appropriate times during early childhood until the early teen years. Starting treatment early can improve height and bone growth. […] Most girls with Turner syndrome need to start estrogen and related hormone therapy in order to begin puberty. Often, estrogen therapy is started around age 11 or 12 years. Estrogen helps to promote breast development and improve the size (volume) of the uterus. Estrogen helps with bone mineralization, and when used with growth hormone, may also help with height. Estrogen replacement therapy usually continues throughout life, until the average age of menopause is reached.

• #1

  https://www.nhs.uk/conditions/turner-syndrome/treatment/

  There’s no cure for Turner syndrome but many of the associated symptoms can be treated. […] Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. […] A specialist in hormone-related conditions (endocrinologist) will carry out tests and checks on a regular basis. They’ll also be able to recommend appropriate treatment, such as growth hormone therapy. […] Girls with Turner syndrome are entitled to receive high-dose growth hormone therapy as soon as it becomes apparent that they’re not growing normally. It will help make them taller in adulthood. […] Oestrogen and progesterone replacement therapy may also be recommended. […] Psychological therapy, such as counselling or cognitive behavioural therapy (CBT), may be recommended.

• #1 Growth Treatment – Turner Syndrome Foundation Email EmailEvent Series

  https://turnersyndromefoundation.org/what_is_turner_syndrome/growth/growth-treatment/?srsltid=AfmBOoqB_i_JSDkYv0SdLEIZVqr8t5h212ndXLrRCpnrgQTjk3T39Wfh

  Growth Hormone treatment, [somatropin (rDNA origin) injection, often referred to as GH, is recommended for girls with Turner Syndrome and requires daily injections of growth hormone once the child drops below the 5th percentile in height. Injections are given subcutaneously at night in attempt to mimic the natural secretion of growth hormone, which peaks at night. […] Treatment for Turner Syndrome is considered medically necessary and is covered by most insurance companies. […] Clinical guidelines for TS indicate that GH is a critical treatment for TS. […] Growth hormone treatment is effective in most girls when started early in life. […] The Toddler Study indicates an even more notable growth when treatment is initiated very early in life during the toddler years. […] Failure to adhere to treatment as prescribed leads to significant reduction of growth hormone treatment efficacy. […] While taking growth treatment, some changes that may occur in your child include: increased weight, increased muscle and bone mass, increased strength, increased balance and coordination, increased metabolism and appetite, and improvement in mood.

• #1 Turner syndrome: Symptoms, causes, and treatment

  https://www.medicalnewstoday.com/articles/176083

  Turner syndrome is a genetic condition with no cure, but treatment may help resolve issues with short stature, sexual development, and learning difficulties. […] Early preventive care is important to reduce the risk of complications. Blood pressure and the thyroid gland need frequent monitoring, and any necessary treatment must be given immediately. […] Hormone therapy may include estrogen, progesterone, and growth hormones. An endocrinologist or pediatric endocrinologist can provide these. […] Growth hormone therapy should start if the girl does not grow normally, to prevent short stature and social stigmatization later in life. A daily injection of growth hormone may add an extra 4 inches, or 10 centimeters, to the girl’s eventual stature. […] Estrogen and progesterone replacement therapy will enable sexual development and reduce the risk of osteoporosis.

• #1 Turner Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/949681-treatment

  Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] The results of a double-blind, placebo-controlled trial show that the combination of growth hormone and ultra-low-dose estrogen in childhood may improve growth in patients with Turner syndrome. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. Estrogen is usually started at age 12-15 years. Treatment can be started with continuous low-dose estrogens at 12 years, or as early as 5 years. […] Growth hormone may have long-term favorable effects on lipids, even after it is discontinued. […] Androgen replacement therapy is not the standard of care, but may have favorable effects.

• #1 Recombinant human growth hormone in the treatment of Turner syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2643099/

  Turner syndrome (TS) is a common chromosomal disorder in women that is associated with the absence of one of the X chromosomes. […] Growth hormone and sex steroid replacement therapy has enhanced growth, pubertal development, bone mass, and the quality of life of TS girls. […] Recombinant human GH (hGH) has improved the height potential of TS girls with varied results though, depending upon the dose of hGH and the age of induction of puberty. […] The initiation of estradiol therapy at an age-appropriate time may also help the TS patients avoid osteoporosis during adulthood. […] Recombinant hGH therapy in TS seems to be safe. […] In conclusion, recombinant human GH therapy in combination with estradiol starting at the normal age of puberty is the treatment of choice for the treatment of short stature in girls with TS.

• #1 Childhood growth hormone treatment in women with Turner syndrome – benefits and adverse effects | Scientific Reports

  https://www.nature.com/articles/s41598-019-52332-0

  Turner syndrome (TS) is characterized by the partial or complete loss of one sex chromosome and results in growth failure, gonadal insufficiency and cardiac anomalies. Treatment with growth hormone (GH) during childhood has indisputable benefits when taking into account the low stature of TS women. […] GH treatment in childhood has benefits in adulthood; however, adverse effects may occur, especially in individuals with treatment that is delayed or is too long. […] Hormone therapy in TS patients using growth hormone (GH) and sex hormones provides treatment not only for short stature and sex hormone deficiency but also for other effects of TS, including cardiovascular diseases. […] At present, recombinant human growth hormone (rhGH) is a standard part of childhood treatment for TS. […] The benefits of childhood GH therapy manifested themselves as significant increases in body height, lower BMIs, more favorable lipid metabolism parameters and a lower prevalence of hypertension.

• #1 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  6. Treatment and Management […] 6.1. Growth Hormone Therapy […] Growth hormone (GH) treatment started at an early age of 4–6 years in patients with TS helps to achieve normal growth pattern similar to that for peers of the same age. The mean average height of TS patients untreated with GH is cited to be around 142–144 cm, which is approximately 20 cm less than the mean height of general population. When treated with GH, the annual height gain of TS patients increased by 1–2 cm for every year of GH therapy. Besides promoting growth, GH augments bone mass, regulates lipid and glucose metabolism and increases amino acid transport in the muscle. Long-term therapy is also associated with positive effects on craniofacial development in TS, mostly affecting mandibular ramus and posterior facial height. A recent systematic review looking at effects of GH on the cardiovascular system showed positive effect on lipid profile, reducing the risk of cardiovascular disease, particularly if with concomitant estradiol therapy.

• #1 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  Several factors affect success of growth hormone therapy. Dose, duration, as well as adherence and compliance to therapy all influence final adult height. The “Toddler Turner” study, which looked at effects of early initiation of GH therapy beginning at 9 months to 4 years of age, revealed that the early treated group were taller all through out, but with no significant difference in near-adult height when compared with early untreated group. This was attributed to the catch down growth noted in the early treated group during lapses of GH therapy, demonstrating the significance of uninterrupted treatment to promote better adult height. Later initiation not only limits adult height predictions but may delay growth associated with puberty as well. The presence of other health conditions such as congenital heart disease, hypothyroidism or celiac disease may contribute to growth deficits, independent of growth hormone effects. Other non-modifiable factors include height of parents and height of the patient at the beginning of GH therapy. Specific genetic markers have also been linked with response to GH therapy in TS, such as estrogen receptor alpha (ESR1) and tyrosine-protein phosphatase nonreceptor type1 (PTPN1) both noted to influence height velocity in TS, whereas homozygosity for SOCS-2, GHR exon3 full length and IGFBP3-202 C alleles was associated with poor response to GH therapy.

• #1 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  The initial dose of GH is 0.35–0.375 mg/kg/week and patients with poor height prognosis may be started on higher doses after careful consideration. Concomitant treatment with Oxandrolone is an option to improve final height if there is delay in initiation of GH therapy due to delayed diagnosis. GH therapy along with Oxandrolone at a dose of 0.03–0.05 mg/kg/day in TS patients 10 years and older results in gain of final height by 2–5 cm as compared to those treated with GH alone. Although Oxandrolone can have synergistic effect on growth acceleration, it is associated with undesirable effects including virilization and delayed pubertal development. These side effects are modest when treated with doses less than 0.06 mg/kg/day. […] 6.2. Estrogen Replacement […] The goal of estrogen replacement therapy in TS is to induce and maintain normal pubertal development with secondary sexual characteristics including normal breasts and uterine size and shape. The other goals include achievement of physiological effects of endogenous estrogens such as bone mineralization and maintenance of cardiovascular health. The negative effects of estrogen deficiency in TS include poor intrauterine growth, decreased cognitive and motor reaction time, reduced bone mass, poor cardiovascular outcomes, low self-esteem and poor quality of life. In a study by Viuff et al., hormone replace therapy is found to reduce endocrine and cardiovascular morbidity in TS adults with decreased use of antidiabetics, thyroid hormone replacement and antihypertensives and reduced hospitalizations due to osteoporotic fractures and stroke. Other studies show that earlier induction of puberty and start of estrogen replacement may be beneficial for adult bone density.

• #1 Recombinant human growth hormone in the treatment of Turner syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2643099/

  Growth hormone therapy seems to be safe, with no adverse effects so far, on glucose metabolism or cardiac function or any association with neoplasms, but further studies are needed to give conclusive data on the issue of long-term safety. […] Nevertheless, most studies report that GH and estradiol therapy allows the girls with Turners Syndrome to attain normal adult height, pubertal development and bone mass and to maintain a good quality of life.

• #1 Turner Syndrome Society | Sexual Development and HRT

  https://www.turnersyndrome.org/sexualdevelopmentandhrt

  Around 90% of those with TS will experience ovarian failure resulting in a deficiency of the sex hormones estrogen and progesterone since the sex hormones are produced by the ovaries. Thankfully, these important hormones can be replaced with medications. The term for underdeveloped or improperly functioning ovaries is hypogonadism. Hormone replacement therapy (HRT) is recommended for girls and women with TS who experience ovarian failure. An endocrinologist is best suited to determine when to begin hormone replacement therapy (HRT) for the sex hormones and once HRT is established, an adult endocrinologist, gynecologist or general practitioner may oversee HRT. […] The goal of HRT is to mimic natural puberty so estrogen begins with a very low dose and gradually increases over 2-3 years to a typical young adult dose, allowing for natural breast development and maturation of the uterus. Higher doses of estrogen limit growth potential, whether or not growth hormone has been started. Girls may remain on a lower dose if growing taller is important.

• #1 Treatment for Turner Syndrome | Children’s Hospital Los Angeles

  https://www.chla.org/center-endocrinology-diabetes-and-metabolism/diagnosis-and-treatment/treatment-turner-syndrome

  Estrogen therapy can promote breast and uterus development. Your childs specialist may recommend estrogen therapy along with growth hormone treatment. […] Our specialists diagnose and treat babies, children and young adults with Turner syndrome. We are one of just a few hospitals in the Western United States with a comprehensive, dedicated Turner syndrome clinic. […] Having this clinic means we can offer your child personalized, targeted care with a multidisciplinary approach.

• #1 What are common treatments for Turner syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/turner/conditioninfo/treatment

  Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms. These include: Human growth hormone. If given in early childhood, hormone injections can often increase adult height by a few inches. Estrogen replacement therapy (ERT). ERT can help start the secondary sexual development that normally begins at puberty (around age 12). This includes breast development and the development of wider hips. Healthcare providers may prescribe a combination of estrogen and progesterone to girls who haven’t started menstruating by age 15. ERT also provides protection against bone loss. […] Regular health checks and access to a wide variety of specialists are important to care for the various health problems that can result from Turner syndrome.

• #1 Turner Syndrome – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/turner-syndrome

  Treatment depends on manifestations and may include surgery for cardiac anomalies and often growth hormone therapy for short stature and estrogen therapy for pubertal failure. […] There is no specific treatment for the underlying genetic condition, and management is based on an individual’s findings. […] Coarctation of the aorta is usually repaired surgically. Other cardiac anomalies are monitored and repaired as needed. […] Treatment with growth hormone can stimulate growth. Estrogen therapy is usually needed to initiate puberty and is typically given at age 12 to 13 years. Thereafter, estrogen/progestin contraceptives are given to maintain secondary sexual characteristics. […] Continuation of estrogen therapy helps establish optimal bone density and skeletal development. Estrogen therapy may also improve the girls ability to plan tasks, pay attention, and assess visual and spatial relationships. […] Treat with hormones to initiate puberty and maintain secondary sexual characteristics.

• #1 Turner Syndrome: What It Is, Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome

  Turner syndrome happens when a female baby is born with one missing or partial X chromosome. It causes a variety of symptoms and features, like short stature and issues with ovary function. Theres no cure, but treatment involves managing hormone levels and other health conditions. […] Theres no cure for Turner syndrome. But certain medications and therapies can help manage its symptoms. […] Besides care for related medical problems (like heart conditions), Turner syndrome treatment often focuses on hormones. Treatments may include: Human growth hormone therapy: Injections of human growth hormone help with vertical growth. If treatment starts early enough, these shots can increase your childs final height by several inches. Estrogen therapy: Often, people with TS have low levels of estrogen, a sex hormone, which impacts their sexual development. Estrogen can help with breast development and menstruation. Estrogen replacement improves brain development, heart function, liver function and bone health, too. Cyclic progestins: These medications induce regular menstrual periods. Healthcare providers typically start them around the age of 11 or 12.

• #1 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  Current recommendations call for starting estrogen replacement at around age 11–12 years, with transdermal 17-β estradiol being the preferred treatment. Monitoring gonadotropins, particularly follicle stimulating hormone (FSH), starting at about 11 years of age, aid in detecting and confirming hypergonadotropic hypogonadism before puberty induction. Low levels of anti-Mullerian hormone (AMH) can also suggest ovarian failure. To mimic the normal physiologic milieu during the peripubertal period, initiation with low doses of estrogen (3–7 µg/kg/day) is recommended, gradually increasing every 6 months, eventually reaching adult doses of up to 100 mg/day in 2–3 years. Ultra-low dose estrogen therapy using oral ethinyl estradiol during the prepubertal period has been suggested, with studies showing normalization of onset and tempo of puberty development, as well as improvements in cognition and memory. However, routine use of this therapy is not recommended due to lack of long-term safety data.

• #1 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  As mentioned, transdermal Estradiol (E2) is the more widely used preparation that theoretically provides a more physiologic, systemic route of delivery. Orally administered estrogen, on the other hand, reaches the systemic circulation after undergoing metabolism in the liver. A randomized clinical trial by Torres-Santiago et al. demonstrated no significant differences between the TS patients treated with oral and transdermal E2 regarding their body composition, bone mineral density and lipid profile when their estradiol levels were titrated to those of normal menstruating adolescents. However, the increased amounts of conjugated estrogen precursors and metabolites associated with oral estrogen preparations pose a higher risk for thromboembolic events as seen in the post-menopausal women. To date, there are no data available to suggest the same risk in TS population, as long-term studies assessing the optimal dose, route and duration of hormone replacement treatment are still to be published.

• #1

  https://austinpublishinggroup.com/pediatric-endocrinology/fulltext/jpe-v1-id1012.php

  The optimal route of estrogen replacement in TS is controversial. […] The theoretical advantages of transdermal over oral estrogen include a more physiologic mode of delivery, without first-pass mechanism in the liver and avoidance of unphysiological changes and action of the hormones. […] About 90% of TS patients require or will require HRT to initiate progress and maintain puberty. […] The HRT must be maintained at least until 50 years of age. […] In this group of patients is essential to educate patients on the importance of continuing HRT until the normal age of menopause to maintain feminization, reduce cardiovascular disease and prevent osteoporosis. […] Estrogen therapy should be initiated around the age of 12-14, at a low-dose and gradually increased over two to four years.

• #1 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  TS individuals usually have normal uterus, and it is recommended to add progestin therapy 2 years after induction of puberty or once spotting or menstrual bleeding has commenced. Progestins minimize risk of endometrial hyperplasia due to unopposed estrogen therapy and thereby prevent endometrial cancer. There are several proposed progestin and estrogen/progestin replacement options after puberty induction. After establishing adult dosing for hormone replacement therapy, it needs to be continued until the usual age of menopause. These patients need to be monitored for risks associated with estrogen therapy on an annual basis. […] 6.3. Fertility Preservation […] Premature ovarian failure results in infertility in majority of patients with TS with spontaneous pregnancy reported only in 2–10%. In those with mosaicism (45X/46XX) salvage of existing oocytes using assisted reproductive technologies was proposed. Oocyte retrieval and cryopreservation after ovarian stimulation in adults and post pubertal adolescents with Turner mosaicism has been reported. Ovarian stimulation was initiated with FSH (recombinant or highly purified) along with LH supplementation in the form of human menopausal gonadotropins or recombinant LH due to concerns of hypothalamic immaturity in post pubertal adolescents with TS.

• #1 Hormone Treatment Therapy – Turner Syndrome Foundation Email EmailEvent Series

  https://turnersyndromefoundation.org/treatment/hormone-treatment-therapy/?srsltid=AfmBOorfPC4e2xHpuefi68clhf90N8W0TGfQlDNprKNjNQxlNfgRMvTk

  The goal is to hopefully minimize the effects of estrogen deficiency in Turner Syndrome, and normalize female growth. […] Growth hormone can be used in combination with ERT. […] Estrogen Therapy can then be continued until the typical age of menopause (between 45 and 55 years old). […] The benefits of estrogen replacement therapy outweigh the consequences. […] If ERT is not taken during the appropriate reproductive years it can have negative impact in these areas.

• #1

  https://austinpublishinggroup.com/pediatric-endocrinology/fulltext/jpe-v1-id1012.php

  The use of progesterone derivatives can be started two years after use of estrogen aimed to mimic the menstrual cycles, avoid undesirable uterine bleeding and prevent endometrial hyperplasia and endometrial carcinoma. […] The ideal way for the use of estrogen is the transdermal or percutaneous. […] The HRT in the ST should be regularly monitored with close clinical evaluation.

• #1 Turner Syndrome where are we? | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03337-0

  Turner syndrome (TS) results from the loss of one X chromosome in phenotypic females, leading to a range of complications such as short stature, cardiovascular issues, autoimmune disorders, metabolic imbalances, osteoporosis, neurocognitive deficits, hearing loss, abnormalities in endocrine functions, infertility, disruptions in bone metabolism, and neurocognitive deficits. […] Growth hormone therapy stands out as a fundamental treatment for addressing the challenges associated with TS. […] Hormone replacement therapy positively impacts bone health and prevents osteoporosis by maintaining bone mineral density and promoting long-term bone health. […] TS management requires a holistic approach that includes hormonal, cardiovascular, psychosocial, and reproductive aspects. This method maximizes the health outcomes and enhances the quality of life for individuals with TS.

• #1 Turner syndrome: narrative review of genetics and clinical aspects of management – Fudge – Pediatric Medicine

  https://pm.amegroups.org/article/view/7267/html

  Growth hormone (GH) is considered standard of care for girls with TS, and numerous studies have demonstrated acceleration of linear growth, and improvements in height standard deviation score (SDS) and adult stature with GH treatment. […] The 2017 TS Clinical Practice Guideline suggests relatively early initiation of GH treatment around ages 4-6 years in girls who have demonstrated growth failure. […] Hormone replacement therapy is necessary in most girls and women with TS for induction of pubertal development, and subsequently for maintenance of estrogen dependent processes during adulthood. […] Recent clinical guidelines recommend beginning low-dose transdermal estradiol at a near physiologic age around 11-12 years if gonadotropins are elevated. […] After completion of puberty and linear growth, hormone replacement therapy should be continued at adult replacement doses until the time of normal menopause (51 to 53 years) unless otherwise contraindicated. […] Cardiovascular disease contributes to increased mortality in TS, and screening is necessary at diagnosis and regular intervals by a cardiologist with experience in TS. […] Neuropsychological testing is recommended as well as interventions tailored to specific areas of weakness.

• #1 Turner Syndrome Clinic

  https://www.nationwidechildrens.org/specialties/turner-syndrome-clinic

  Turner syndrome is linked to a higher risk of certain conditions, like growth and puberty problems, heart problems, kidney problems, learning difficulties, and loss of fertility. Many children with Turner syndrome will not have all of these conditions. A specially trained team must monitor for and treat any associated medical conditions. […] We do this by: […] Monitoring growth and pubertal development and providing treatment, if needed […] Counseling for gynecology care and fertility […] The goal of our Turner Syndrome Clinic is to provide complete and personalized care for your child. […] Visits may also include hearing screening and questionnaires for anxiety or learning difficulties. […] For Turner Syndrome specifically, gynecologists can help with puberty induction, prescribing hormone replacement therapy until the average age of menopause, review fertility options and discuss pregnancy risks related to Turner Syndrome.

• #1 Turner Syndrome – Pediatric Endocrine Society

  https://pedsendo.org/patient-resource/turner-syndrome/

  Patients will need to be monitored for heart defects and high blood pressure by a cardiologist at certain intervals throughout life. They also need to be evaluated by a nephrologist for any potential kidney problems or high blood pressure. Audiological evaluations to assess for the development of hearing loss are beneficial. Educational evaluation is helpful to evaluate learning and psychological issues and develop appropriate strategies to maximize the patients future educational and vocational opportunities.

• #1 Get Turner Syndrome Treatment | Cleveland Clinic Children’s

  https://my.clevelandclinic.org/pediatrics/services/turner-syndrome-treatment

  Many children with TS have hearing loss and frequent ear infections. Our pediatric audiologists and otolaryngologists (ENT) help your child hear better with hearing aids and the placement of ear tubes, if needed. […] Children with Turner syndrome often have nearsightedness. They also can have farsightedness or red-green color blindness, but not as frequently. Regular vision screenings can pinpoint problems. Glasses, contacts or eye surgery can help. […] The physical effects of Turner syndrome may make your child feel depressed or anxious. Our pediatric psychologists help your child work through their emotions with things like cognitive-behavioral therapy. […] Turner syndrome is a chronic condition. Their pediatric care team will work with them to help them adjust to their diagnosis and learn how to manage it each day. And when they reach adolescence, well start to transition them from their pediatric care team to providers who specialize in adult Turner syndrome treatment.

• #1 Turner Syndrome Clinic | Children’s Hospital Los Angeles

  https://www.chla.org/center-endocrinology-diabetes-and-metabolism/programs-and-services/turner-syndrome-clinic

  At Childrens Hospital Los Angeles, we have a dedicated clinic to diagnose and treat children with Turner syndrome. Our specialists are skilled experts with years of experience caring for babies and children with the condition. […] Our treatment team includes dietitians, endocrinologists, specialized endocrine nurses and social workers. If needed, your family also has access to subspecialists within the CHLA network, such as cardiologists, psychologists and audiologists. […] The specialists who lead the Turner Syndrome Clinic collaborate closely with cardiologists to offer advanced heart treatments for Turner syndrome. […] Our specialists work with your family to create a personalized treatment plan. We find the most appropriate therapies your child, including growth hormones, screenings for thyroid function or heart treatment. Learn more about treatment for Turner syndrome.

• #1

  https://www.nhs.uk/conditions/turner-syndrome/

  There’s no cure for Turner syndrome but many of the associated symptoms can be treated. […] Girls and women with Turner syndrome will need to have their heart, kidneys and reproductive system checked regularly throughout their lives. However, it’s usually possible to lead a relatively normal and healthy life. […] Life expectancy is slightly reduced, but it can be improved with regular health checks to identify and treat potential problems at an early stage.

• #1 Turner Syndrome Adult Care Center | UT Physicians

  https://www.utphysicians.com/turner-syndrome-care-center/

  The UT Physicians Turner Syndrome Adult Comprehensive Care Center (TSACCC) brings together a multidisciplinary team of specialists to give you coordinated and complete care. […] The TSACCC is more than just a medical home for adult women with TS. We’ll get to know you so that we can develop personalized care that meets your individual needs. […] Regular screening of thyroid hormone levels (TSH and T4 tests) are recommended for everyone with TS, as they can develop any time in life and cause serious health problems if untreated. […] Many assisted reproduction options are available to women with TS: Freezing your own eggs or ovarian tissue (cryopreservation), Using a donated egg, Using a gestational carrier, Adoption. […] Neuropsychological evaluation and therapies are available for people who may need help with challenges related to NVLD.

• #1

  https://www.sgh.com.sg/patient-care/conditions-treatments/turner-syndrome

  While it is not possible to cure TS, much can be done to make sure your child has the best possible outcome. […] The multidisciplinary medical team looking after your child will be able to address specific medical concerns and routine TS-related healthcare issues. […] Treatment for those with TS should be individualised. Doctors, families and patients should decide on treatment options together. […] Ongoing evaluation of the heart, liver, thyroid and hearing is needed from birth and throughout adult life. […] Growth hormone (GH) therapy is recommended for short stature to optimise final height potential. […] GH can be started at 4-5 years of age, and involves an injection given daily via the subcutaneous route. GH therapy is generally continued until a child reaches her final height.

• #1 Turner Syndrome Medication: Human growth hormone, Anabolic steroids, Thyroid replacement therapies, Estrogen replacement therapies, Antihypertensive agents, Vitamins and minerals

  https://emedicine.medscape.com/article/949681-medication

  Almost all individuals require estrogen replacement. Estrogen is usually started at chronologic age 12 years or older. Adults usually require cyclic therapy with both estrogen and progestin. Transdermal or parenteral estrogen may be useful in limiting some adverse effects of estrogen therapy. […] Osteoporosis is common and is a major cause of morbidity in adults. Treatment is the same as for other adult women with osteoporosis. Monitor diet and ensure an intake of at least 1 g/d of calcium and 400 IU/d of vitamin D. Treatment with growth hormone and estrogen are also important in the prevention of osteoporosis later in life. […] These products are used to control hypertension and to ultimately prevent complications such as aortic dissection. The 2 most common class of medications used for these purposes in pediatric patients are beta-blockers and ACE inhibitors.

• #1 Turner Syndrome: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2007/0801/p405.html

  Patients with Turner syndrome are likely to ask their family physicians about reproductive potential, and age-appropriate counseling about infertility treatments can markedly mitigate the adverse psychological impact of the diagnosis. […] In addition to reproductive counseling, the transition to adult treatment of Turner syndrome includes management of atherogenic cardiovascular risk factors (e.g., hypertension, diabetes, hyperlipidemia); calcium and vitamin D supplementation to prevent osteoporosis; and ongoing sex hormone therapy.

• #1 Get Turner Syndrome Treatment | Cleveland Clinic Children’s

  https://my.clevelandclinic.org/pediatrics/services/turner-syndrome-treatment

  Because TS shows up differently in each child and impacts their growth, sexual development and other body systems, theyll have personalized treatment based on their age, symptoms and goals. Treatment could include: […] We recommend your child start daily hormone injections (shots) to help them develop and grow. Your childs care team will help you learn how to give your child injections and answer your questions about human growth hormone (HGH). […] As your child gets older, we may recommend estrogen hormone replacement therapy (HRT) to allow your childs body to go through puberty. They may also need to take another hormone called progesterone to help them start having menstrual periods. […] Up to 50% of people with TS have a problem with their heart. We recommend testing their heart to see if its developing like it should and working well.

• #1 Turner Syndrome: Nursing Diagnosis & Interventions | Nurse.com

  https://www.nurse.com/clinical-guides/turner-syndrome/?srsltid=AfmBOoo9sQhHwCCUvWJv-y08EG8YLtU3ZaoS8P6KPFOdG9g_wvvonS8_

  Nursing care for patients with Turner syndrome should focus on monitoring growth, managing hormone therapy, preventing complications from associated conditions (such as cardiac or renal issues), and providing psychosocial support. […] Administer growth hormone therapy as prescribed and monitor for side effects. Provide education to the patient and caregivers on the importance of adherence to therapy. […] Educate patients and families about estrogen therapy to promote secondary sexual characteristics and bone health. Monitor for compliance and manage side effects, such as mood changes or skin reactions. […] Encourage regular cardiovascular screenings, including echocardiograms and blood pressure checks, to detect early signs of heart disease. Collaborate with cardiologists for long-term monitoring.

• #1 Turner syndrome – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

  Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives. […] It’s important to get a prompt, accurate diagnosis and appropriate care. See your doctor if there are concerns about the possibility of Turner syndrome. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation. […] Most females with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, and some can become pregnant with fertility treatment. […] Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.

• #1 Turner syndrome – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/turner-syndrome/diagnosis-treatment/drc-20360783

  Other treatments are tailored to address particular problems as needed. Regular checkups have shown substantial improvements in the health and quality of life for girls and women with Turner syndrome. […] It’s important to discuss reproductive goals with your health care provider. […] Some women with Turner syndrome can become pregnant with the donation of an egg or embryo. A reproductive endocrinologist can discuss options and help evaluate the chances of success. […] It’s important to discuss those risks before pregnancy with a high-risk obstetrician a specialist in maternal-fetal medicine who focuses on high-risk pregnancies or a reproductive endocrinologist.

• #1 Turner Syndrome Medication: Human growth hormone, Anabolic steroids, Thyroid replacement therapies, Estrogen replacement therapies, Antihypertensive agents, Vitamins and minerals

  https://emedicine.medscape.com/article/949681-medication

  These agents are the primary treatment for short stature. They stimulate growth of linear bone, skeletal muscle, and organs. […] Taller adult heights are associated with earlier treatment and with the duration of treatment prior to induced or spontaneous puberty. With treatment, approximately 50% of patients reach an adult height of 150 cm (59″) or more, compared with an untreated mean adult height of 142 cm (56″). […] This is an adjuvant for growth hormone therapy. […] Of limited use. Some endocrinologists recommend use in patients diagnosed in their teens to achieve a maximum adult height quickly. When used, often combined with growth hormone to allow a lower dose, thus decreasing the potential for adverse effects. […] These agents are used for treatment of hypothyroidism. […] Hypothyroidism is common with Turner syndrome and is treated like any other hypothyroidism. Thyroid hormones influence growth and maturation of tissues. Involved in normal growth, metabolism, and development.

• #1

  https://myhealth.alberta.ca/Health/aftercareinformation/pages/conditions.aspx?hwid=ug5420

  Estrogen and growth hormone can help girls with Turner syndrome to develop at the time of puberty. Estrogen can help girls develop breasts. Growth hormone helps them grow in height. […] Follow-up care is a key part of your child’s treatment and safety. Be sure to make and go to all appointments, and call your doctor or nurse advice line if your child is having problems. […] Make sure to go to follow-up appointments. Turner syndrome is a lifelong condition. Your doctor needs to watch for any problems and may refer your daughter to other doctors. […] Have your daughter take medicines exactly as prescribed. Call your doctor or nurse advice line if you think your daughter is having a problem with her medicine. […] Be sure your daughter gets enough calcium and vitamin D to keep her bones strong. Females with Turner syndrome are at risk for developing thin bones. […] See that your daughter gets plenty of exercise. Walking, running, and lifting weights also will help make bones strong.

• #1 Understanding Turner Syndrome | Counseling | Therapy

  https://www.thecenterforgrowth.com/tips/understanding-turner-syndrome

  Has your child just been diagnosed with Turner Syndrome? […] This article will provide an overview of what Turner Syndrome is, along with the recommended treatment. […] Varying treatments, therapies, and additional aids are available to assist these individuals in establishing and maintaining a more normal, successful, and healthy life. In order for these girls to develop sexually and psychosexually, Hormone Replacement therapy, Gonadal Hormone therapy, and Estrogen therapy can be administered. This can help with the onset of menarche, help continue the menstruation cycle, aid in normal development, and decrease the likelihood of chronic disease. Because many girls do not begin menarche during puberty, it is recommended to begin hormone therapy during this time, if possible. This will not only aid in normal development sexually and psychosexually, but also decrease the risk development of psychological symptoms (Christopoulos, et al., 2008).

• #1 Understanding Turner Syndrome | Counseling | Therapy

  https://thecenterforgrowth.com/tips/understanding-turner-syndrome

  Factors to be considerate of when raising a child with Turners Syndrome, or when engaging in therapy with such individual, include body image, self-esteem, identity, and worth, along with interpersonal relationships. […] Sexual education should also be incorporated into therapy, due to delayed sexual development and activity. […] Finally, processing infertility, pregnancy and alternative options, and risks of pregnancy should also be discussed. […] If these individuals are diagnosed properly and at an early enough age, treatment is available for the different disparities these individuals face and can aid in the development of a normal life.

• #1 Turner Syndrome | X Chromosome | MedlinePlus

  https://medlineplus.gov/turnersyndrome.html

  There is no cure for Turner syndrome, but there are treatments for some of the symptoms: […] If they are started in early childhood, hormone injections can often increase adult height by a few inches […] Estrogen replacement therapy (ERT) can help start sexual development. It also protects against bone loss […] Assisted reproduction technologies can help some women with Turner syndrome get pregnant. […] People who have Turner syndrome need regular health checks. It’s also important for them to have a care team that includes specialists who can treat the health problems caused by Turner syndrome.

• #1 Turner syndrome: Symptoms, causes, and treatment

  https://www.medicalnewstoday.com/articles/176083

  Estrogen replacement therapy will start at the onset of puberty, around 14 years of age, starting with low doses that slowly increase. […] Progesterone therapy, given later, can trigger menstruation. Sex hormone treatment will continue for the rest of the person’s life. It may be given as tablets, injections, or patches. Around 90 percent of girls with Turner syndrome will need hormone treatment to trigger puberty and boost growth. […] In-vitro fertilization (IVF) will be necessary if the individual wishes to become pregnant. Any pregnancy will need close monitoring, because of the extra strain on the heart and blood vessels. […] Counseling and psychological therapy can help patients with psychological problems. […] Learning assistance and educational support can help those who have problems with numeracy, spatial concepts, memory skills, and fine finger movements.

• #1 Turner Syndrome Adult Care Center | UT Physicians

  https://www.utphysicians.com/turner-syndrome-care-center/

  We recommend implementing a planned and staged transition process in adolescence: Promote self-care and healthy lifestyle behaviors, Become aware of your personal health history and risks for potential future health problems, Learn how to schedule appointments, order medication refills, and contact insurance plans, Learn to advocate for yourself at appointments. […] The most important and effective treatment to reduce the risk of gonadoblastoma is the surgical removal of the ovaries. […] For girls and women who are found to have Y chromosome DNA, there is currently is no standard recommendation about when to remove the ovaries. We do recommend that you meet with your doctors as soon as possible after you receive your test result to determine the next best steps.

• #1 Management of Turner syndrome in adults – UpToDate

  https://www.uptodate.com/contents/management-of-turner-syndrome-in-adults

  Management of Turner syndrome in adults […] A toolkit to assist with the transition to adult care was developed by the Endocrine Society and includes forms for assessing patient readiness, knowledge and skills, general recommendations to the adult-care provider, and a summary of screening recommendations (table 1) […] In one retrospective cohort study of 82 patients with Turner syndrome receiving care at a multidisciplinary specialty clinic, patients were more likely to be started on estrogen therapy and have comorbidities identified than similar females receiving care at primary care facilities. […] Pubertal induction and maintenance therapy for individuals with Turner syndrome, using transdermal estrogens: Approach for the first 18 to 24 months.

• #1 Turner Syndrome Clinic

  https://www.massgeneral.org/children/turner-syndrome-clinic

  The Turner syndrome clinic provides compassionate care with a multidisciplinary approach. […] In order to provide up-to-date care for people with Turner syndrome, we follow the 2017 Clinical Practice Guidelines established by Claus Gravholt, MD, PhD, and collaborators (including clinic co-director Angela Lin, MD). […] In the pediatric years, the emphasis is on initiating growth hormone as needed, identifying defects (such as congenital heart disease), and on hormone replacement therapy. […] The focus of care shifts from growth and baseline testing to the transition to independence. […] In addition to fertility-related care, we provide multispecialty, coordinated care, even throughout the most senior years. […] We work as a team to help those with Turner syndrome and their families transition from prenatal consultation to infancy to adolescence, and through adulthood and their senior years.

• #1 Turner Syndrome where are we? | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03337-0

  Continuous research and refinement of therapeutic interventions are crucial for advancing TS management. […] Despite advancements in understanding TS, fundamental questions and challenges persist in areas like diagnosis, hormone replacement therapy, co-morbidities, fertility, and adult clinic establishment.

• #1 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  Ovarian tissue cryopreservation which is still experimental fertility preservation technique may be an option in prepubertal patients with TS who are at increased risk of accelerated ovarian failure based declining AMH levels (<2 ng/mL) and cannot wait until sufficient maturity to undergo oocyte cryopreservation. Though fertility preservation is no longer consider experimental in adult patients, ovarian stimulation for oocyte cryopreservation and ovarian tissue cryopreservation in young patients needs consent from parents and patients above nine years of age and also approval of institutional review board (IRB) is strongly recommended. More recently, another approach for fertility preservation is suggested, primarily based on the patient’s genotype (monosomy vs. mosaic), then subsequently based on AMH concentrations over time. This approach also takes into strong consideration the expected maternal risks that may vary significantly from person to person. Prenatal genetic counseling plays an important role in prenatal diagnostic procedures in all pregnant women and in future reproductive options such as in vitro fertilization for TS adults.

• #1 Turner Syndrome Clinic | Children’s National Hospital

  https://www.childrensnational.org/get-care/departments/turner-syndrome-clinic

  The Turner Syndrome Clinic at Childrens National Hospital aims to provide comprehensive care to children with Turner syndrome. […] Our goal is to treat, support and empower children with Turner syndrome to achieve their full potential. […] We are the only program in the region with a specialized program for Turner syndrome, which ensures that your child will receive the best possible care for their condition. […] Our goal is to provide our patients with continuity of care and address multispecialty medical and developmental needs from birth until transition to adult care. […] If your child has Turner syndrome and short stature, they may be eligible to participate in a study testing a new medicine called vosoritide to see if it can help your child grow taller.

• #1 Turner Syndrome: What It Is, Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome

  Treatment for Turner syndrome depends on each childs specific symptoms and development. A coordinated care team can provide the most comprehensive, effective care. The team will look at the whole picture and tailor a plan that works for your child. […] Early diagnosis is key. Pay attention to your childs growth and milestones. Perhaps you noticed your child doesnt seem to be growing as you expect, or you see unusual physical symptoms. Talk to their pediatrician about any concerns. […] Certain treatments, such as hormone therapy, are most effective if you start them early. Its also important to stay on top of other medical concerns, such as heart problems. Your child will likely need regular monitoring and checkups to keep tabs on their health and any concerns.

• #1 Turner Syndrome Program | Children’s Hospital of Philadelphia

  https://www.chop.edu/centers-programs/turner-syndrome-program

  Girls with Turner syndrome face unique challenges physically, socially and psychologically. The Turner Syndrome Program at Children’s Hospital of Philadelphia (CHOP) provides comprehensive and compassionate care that addresses every type of need girls with Turner syndrome and their families have. […] With diagnosis, treatment, ongoing education and support, many girls with Turner syndrome lead healthy, happy and independent lives. […] Our comprehensive care may include consultation with experts from several specialties, including endocrinology, genetics, audiology, cardiology, nephrology, child development, gynecology, reproductive gynecology, orthopedics, otolaryngology and dermatology. […] In addition to tracking the endocrine impacts and other potential medical complications of Turner syndrome, we offer several programs that address the psychological and social issues girls with Turner syndrome and their family members commonly face.

• #2 What are common treatments for Turner syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development

  http://www.nichd.nih.gov/health/topics/turner/conditioninfo/treatment

  Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms. These include: Human growth hormone. If given in early childhood, hormone injections can often increase adult height by a few inches. Estrogen replacement therapy (ERT). ERT can help start the secondary sexual development that normally begins at puberty (around age 12). This includes breast development and the development of wider hips. Healthcare providers may prescribe a combination of estrogen and progesterone to girls who haven’t started menstruating by age 15. ERT also provides protection against bone loss. […] Regular health checks and access to a wide variety of specialists are important to care for the various health problems that can result from Turner syndrome.

• #2 Turner Syndrome: Diagnosis and Management | AAFP

  https://www.aafp.org/pubs/afp/issues/2007/0801/p405.html

  Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. […] Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. […] Given the complexity and multisystem nature of Turner syndrome, family physicians can play an important role in coordinating multidisciplinary management and in directly managing risk factors and complications (e.g., infertility, cardiovascular complications, osteoporosis). […] The key aspects of managing Turner syndrome in children are cardiovascular monitoring and treatment of congenital heart disease; growth hormone therapy to augment linear growth (as early as 12 to 24 months of age); and supplemental estrogen therapy for sexual development and preservation of bone mineral density (typically initiated in the preteen years).

• #2 What Is Turner Syndrome? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/turner-syndrome/guide/

  Theres no cure for Turner syndrome or any proven treatment for the condition itself. However, some medications can help address some of its complications. […] The use of growth hormone in childhood given daily by injection can stimulate growth and help a girl achieve a more normal adult height, according to the Turner Syndrome Foundation. […] Starting growth hormone treatment early can improve height and bone growth. The average height of women with Turner syndrome who did not receive growth hormone is 4 feet 8 inches. Growth hormone therapy increases adult height by 4 inches, on average. […] In addition, estrogen and progesterone therapy can stimulate sexual maturation and also improve the symptoms causing learning difficulties, according to the Turner Syndrome Society of the United States.

• #2 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  6. Treatment and Management […] 6.1. Growth Hormone Therapy […] Growth hormone (GH) treatment started at an early age of 4–6 years in patients with TS helps to achieve normal growth pattern similar to that for peers of the same age. The mean average height of TS patients untreated with GH is cited to be around 142–144 cm, which is approximately 20 cm less than the mean height of general population. When treated with GH, the annual height gain of TS patients increased by 1–2 cm for every year of GH therapy. Besides promoting growth, GH augments bone mass, regulates lipid and glucose metabolism and increases amino acid transport in the muscle. Long-term therapy is also associated with positive effects on craniofacial development in TS, mostly affecting mandibular ramus and posterior facial height. A recent systematic review looking at effects of GH on the cardiovascular system showed positive effect on lipid profile, reducing the risk of cardiovascular disease, particularly if with concomitant estradiol therapy.

• #2 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  Several factors affect success of growth hormone therapy. Dose, duration, as well as adherence and compliance to therapy all influence final adult height. The “Toddler Turner” study, which looked at effects of early initiation of GH therapy beginning at 9 months to 4 years of age, revealed that the early treated group were taller all through out, but with no significant difference in near-adult height when compared with early untreated group. This was attributed to the catch down growth noted in the early treated group during lapses of GH therapy, demonstrating the significance of uninterrupted treatment to promote better adult height. Later initiation not only limits adult height predictions but may delay growth associated with puberty as well. The presence of other health conditions such as congenital heart disease, hypothyroidism or celiac disease may contribute to growth deficits, independent of growth hormone effects. Other non-modifiable factors include height of parents and height of the patient at the beginning of GH therapy. Specific genetic markers have also been linked with response to GH therapy in TS, such as estrogen receptor alpha (ESR1) and tyrosine-protein phosphatase nonreceptor type1 (PTPN1) both noted to influence height velocity in TS, whereas homozygosity for SOCS-2, GHR exon3 full length and IGFBP3-202 C alleles was associated with poor response to GH therapy.

• #2 Childhood growth hormone treatment in women with Turner syndrome – benefits and adverse effects | Scientific Reports

  https://www.nature.com/articles/s41598-019-52332-0

  The potentially negative outcomes of childhood GH treatment include lower thrombocyte counts as well as a significantly higher prevalence of retrognathism and nail anomalies and/or ingrowing nails. […] One major concern is the clinical relevance of the changes in blood count parameters (RBCs, thrombocytes). […] Apart from the beneficial effect of GH on stature, especially at the beginning of treatment of TS women, childhood GH therapy favorably affects the cardiovascular system via improvements in the lipid profile and a decreased prevalence of arterial hypertension. […] Therefore, further studies are warranted to identify potential drawbacks of pediatric GH treatment.

• #2

  https://www.sgh.com.sg/patient-care/conditions-treatments/turner-syndrome

  For girls with pubertal failure, puberty can be initiated with the use of oestrogen replacement therapy. Oestrogen therapy is also important for the prevention of osteoporosis. […] Oestrogen can be given in the form of a tablet, skin patch or injection. Progesterone is added after oestrogen to help to produce withdrawal bleeds (like periods). Once hormone treatment has begun, it is usually continued throughout life. […] The social and psychological impact of TS cannot be underestimated and should be a priority in the care of any girl or woman with the condition. It is highly beneficial for them to connect with others who share similar experiences and concerns.

• #2 Management of Turner syndrome in adults – UpToDate

  https://www.uptodate.com/contents/management-of-turner-syndrome-in-adults

  Management of Turner syndrome in adults […] A toolkit to assist with the transition to adult care was developed by the Endocrine Society and includes forms for assessing patient readiness, knowledge and skills, general recommendations to the adult-care provider, and a summary of screening recommendations (table 1) […] In one retrospective cohort study of 82 patients with Turner syndrome receiving care at a multidisciplinary specialty clinic, patients were more likely to be started on estrogen therapy and have comorbidities identified than similar females receiving care at primary care facilities. […] Pubertal induction and maintenance therapy for individuals with Turner syndrome, using transdermal estrogens: Approach for the first 18 to 24 months.

• #2 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  As mentioned, transdermal Estradiol (E2) is the more widely used preparation that theoretically provides a more physiologic, systemic route of delivery. Orally administered estrogen, on the other hand, reaches the systemic circulation after undergoing metabolism in the liver. A randomized clinical trial by Torres-Santiago et al. demonstrated no significant differences between the TS patients treated with oral and transdermal E2 regarding their body composition, bone mineral density and lipid profile when their estradiol levels were titrated to those of normal menstruating adolescents. However, the increased amounts of conjugated estrogen precursors and metabolites associated with oral estrogen preparations pose a higher risk for thromboembolic events as seen in the post-menopausal women. To date, there are no data available to suggest the same risk in TS population, as long-term studies assessing the optimal dose, route and duration of hormone replacement treatment are still to be published.

• #2

  https://austinpublishinggroup.com/pediatric-endocrinology/fulltext/jpe-v1-id1012.php

  The use of progesterone derivatives can be started two years after use of estrogen aimed to mimic the menstrual cycles, avoid undesirable uterine bleeding and prevent endometrial hyperplasia and endometrial carcinoma. […] The ideal way for the use of estrogen is the transdermal or percutaneous. […] The HRT in the ST should be regularly monitored with close clinical evaluation.

• #2 Turner syndrome: narrative review of genetics and clinical aspects of management – Fudge – Pediatric Medicine

  https://pm.amegroups.org/article/view/7267/html

  Growth hormone (GH) is considered standard of care for girls with TS, and numerous studies have demonstrated acceleration of linear growth, and improvements in height standard deviation score (SDS) and adult stature with GH treatment. […] The 2017 TS Clinical Practice Guideline suggests relatively early initiation of GH treatment around ages 4-6 years in girls who have demonstrated growth failure. […] Hormone replacement therapy is necessary in most girls and women with TS for induction of pubertal development, and subsequently for maintenance of estrogen dependent processes during adulthood. […] Recent clinical guidelines recommend beginning low-dose transdermal estradiol at a near physiologic age around 11-12 years if gonadotropins are elevated. […] After completion of puberty and linear growth, hormone replacement therapy should be continued at adult replacement doses until the time of normal menopause (51 to 53 years) unless otherwise contraindicated. […] Cardiovascular disease contributes to increased mortality in TS, and screening is necessary at diagnosis and regular intervals by a cardiologist with experience in TS. […] Neuropsychological testing is recommended as well as interventions tailored to specific areas of weakness.

• #2 Turner’s syndrome – Overview of Information and Clinical Research

  https://clinicaltrials.eu/disease/turners-syndrome/

  In addition to estrogen, progesterone therapy is often used to induce regular menstrual cycles. […] Given the complexity of Turner syndrome, a multidisciplinary approach is essential for effective management. […] For women with Turner syndrome who wish to become pregnant, assisted reproduction technologies such as egg or embryo donation can be considered. […] Mental health support is also a critical component of Turner syndrome management. Working with a mental health professional, such as a child psychologist, can help address social issues, low self-esteem, anxiety, and depression. […] Treatment aims to correct any physical defects and help bring about puberty. […] By focusing on managing health conditions and receiving appropriate medical care, individuals with Turner syndrome can lead fulfilling lives.

• #2 Turner Syndrome Program | Children’s Hospital of Philadelphia

  https://www.chop.edu/centers-programs/turner-syndrome-program

  Girls with Turner syndrome face unique challenges physically, socially and psychologically. The Turner Syndrome Program at Children’s Hospital of Philadelphia (CHOP) provides comprehensive and compassionate care that addresses every type of need girls with Turner syndrome and their families have. […] With diagnosis, treatment, ongoing education and support, many girls with Turner syndrome lead healthy, happy and independent lives. […] Our comprehensive care may include consultation with experts from several specialties, including endocrinology, genetics, audiology, cardiology, nephrology, child development, gynecology, reproductive gynecology, orthopedics, otolaryngology and dermatology. […] In addition to tracking the endocrine impacts and other potential medical complications of Turner syndrome, we offer several programs that address the psychological and social issues girls with Turner syndrome and their family members commonly face.

• #2 Turner Syndrome Program | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/turner-syndrome-program/

  The Turner Syndrome Program at Lurie Childrens is a partnership between specialists with clinical and research expertise in the area of Turner syndrome. The integrated team aims to provide comprehensive care to pediatric patients with Turner syndrome, holistically treating the patient instead of addressing each symptom or issue separately. […] Our program offers regularly-scheduled clinics each month, so that our patients can easily see multiple specialists on one day. This approach helps to improve ease of care and limits time off school. […] During your comprehensive first visit, we will create a recommended treatment plan, which are all tailored for each patient and their unique needs. Because we provide total care for each patient with Turner syndrome, no two treatment plans are exactly the same.

• #2 Turner syndrome – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782

  Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives. […] It’s important to get a prompt, accurate diagnosis and appropriate care. See your doctor if there are concerns about the possibility of Turner syndrome. Your doctor may refer you to a physician who specializes in genetics (geneticist) or in hormone disorders (endocrinologist) for further evaluation. […] Most females with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, and some can become pregnant with fertility treatment. […] Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.

• #2 Turner Syndrome where are we? | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03337-0

  Turner syndrome (TS) results from the loss of one X chromosome in phenotypic females, leading to a range of complications such as short stature, cardiovascular issues, autoimmune disorders, metabolic imbalances, osteoporosis, neurocognitive deficits, hearing loss, abnormalities in endocrine functions, infertility, disruptions in bone metabolism, and neurocognitive deficits. […] Growth hormone therapy stands out as a fundamental treatment for addressing the challenges associated with TS. […] Hormone replacement therapy positively impacts bone health and prevents osteoporosis by maintaining bone mineral density and promoting long-term bone health. […] TS management requires a holistic approach that includes hormonal, cardiovascular, psychosocial, and reproductive aspects. This method maximizes the health outcomes and enhances the quality of life for individuals with TS.

• #2 Get Turner Syndrome Treatment | Cleveland Clinic Children’s

  https://my.clevelandclinic.org/pediatrics/services/turner-syndrome-treatment

  Many children with TS have hearing loss and frequent ear infections. Our pediatric audiologists and otolaryngologists (ENT) help your child hear better with hearing aids and the placement of ear tubes, if needed. […] Children with Turner syndrome often have nearsightedness. They also can have farsightedness or red-green color blindness, but not as frequently. Regular vision screenings can pinpoint problems. Glasses, contacts or eye surgery can help. […] The physical effects of Turner syndrome may make your child feel depressed or anxious. Our pediatric psychologists help your child work through their emotions with things like cognitive-behavioral therapy. […] Turner syndrome is a chronic condition. Their pediatric care team will work with them to help them adjust to their diagnosis and learn how to manage it each day. And when they reach adolescence, well start to transition them from their pediatric care team to providers who specialize in adult Turner syndrome treatment.

• #2 Understanding Turner Syndrome | Counseling | Therapy

  https://thecenterforgrowth.com/tips/understanding-turner-syndrome

  Has your child just been diagnosed with Turner Syndrome? […] This article will provide an overview of what Turner Syndrome is, along with the recommended treatment. […] Varying treatments, therapies, and additional aids are available to assist these individuals in establishing and maintaining a more normal, successful, and healthy life. In order for these girls to develop sexually and psychosexually, Hormone Replacement therapy, Gonadal Hormone therapy, and Estrogen therapy can be administered. This can help with the onset of menarche, help continue the menstruation cycle, aid in normal development, and decrease the likelihood of chronic disease. […] Because many girls do not begin menarche during puberty, it is recommended to begin hormone therapy during this time, if possible. This will not only aid in normal development sexually and psychosexually, but also decrease the risk development of psychological symptoms.

• #2 Turner syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Turner_syndrome

  Estrogen replacement therapy such as the birth control pill, has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. Estrogens are crucial for maintaining good bone integrity, cardiovascular health and tissue health. Women with Turner syndrome who do not have spontaneous puberty and who are not treated with estrogen are at high risk for osteoporosis and heart conditions. […] Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.

• #2 Turner Syndrome (for Teens) | Nemours KidsHealth

  https://kidshealth.org/en/teens/turner.html

  Girls with Turner syndrome are usually shorter than their peers. The good news is that if TS is diagnosed while a girl is still growing, she can be treated with growth hormones to help her grow taller. […] However, advances in medical technology, including hormonal therapy and in vitro fertilization, can help women with this condition. […] Because TS is a chromosomal disorder, there’s no cure for the condition. But a number of treatments can help: Growth hormone, either alone or with other hormone treatment, may improve growth and will usually increase final adult height often into the normal range if treatment is started early enough. Estrogen replacement therapy helps a girl develop the physical changes of puberty, including breast development and menstrual periods. This treatment usually starts when a girl is about 12 or 13. Cardiac surgery may be necessary to correct specific heart defects. Reproductive technologies can help women with TS become pregnant. With in vitro fertilization, donor eggs are used to create embryos, which can be inserted into the uterus of a woman with TS. With the help of hormone treatment, the woman can carry a developing fetus to term.

• #2 Turner Syndrome

  https://www.mdpi.com/2673-396X/3/2/22

  Ovarian tissue cryopreservation which is still experimental fertility preservation technique may be an option in prepubertal patients with TS who are at increased risk of accelerated ovarian failure based declining AMH levels (<2 ng/mL) and cannot wait until sufficient maturity to undergo oocyte cryopreservation. Though fertility preservation is no longer consider experimental in adult patients, ovarian stimulation for oocyte cryopreservation and ovarian tissue cryopreservation in young patients needs consent from parents and patients above nine years of age and also approval of institutional review board (IRB) is strongly recommended. More recently, another approach for fertility preservation is suggested, primarily based on the patient’s genotype (monosomy vs. mosaic), then subsequently based on AMH concentrations over time. This approach also takes into strong consideration the expected maternal risks that may vary significantly from person to person. Prenatal genetic counseling plays an important role in prenatal diagnostic procedures in all pregnant women and in future reproductive options such as in vitro fertilization for TS adults.

• #2 Turner Syndrome Clinic

  https://www.massgeneral.org/children/turner-syndrome-clinic

  The Turner syndrome clinic provides compassionate care with a multidisciplinary approach. […] In order to provide up-to-date care for people with Turner syndrome, we follow the 2017 Clinical Practice Guidelines established by Claus Gravholt, MD, PhD, and collaborators (including clinic co-director Angela Lin, MD). […] In the pediatric years, the emphasis is on initiating growth hormone as needed, identifying defects (such as congenital heart disease), and on hormone replacement therapy. […] The focus of care shifts from growth and baseline testing to the transition to independence. […] In addition to fertility-related care, we provide multispecialty, coordinated care, even throughout the most senior years. […] We work as a team to help those with Turner syndrome and their families transition from prenatal consultation to infancy to adolescence, and through adulthood and their senior years.

• #2

  https://www.nhs.uk/conditions/turner-syndrome/treatment/

  There’s no cure for Turner syndrome but many of the associated symptoms can be treated. […] Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. […] A specialist in hormone-related conditions (endocrinologist) will carry out tests and checks on a regular basis. They’ll also be able to recommend appropriate treatment, such as growth hormone therapy. […] Girls with Turner syndrome are entitled to receive high-dose growth hormone therapy as soon as it becomes apparent that they’re not growing normally. It will help make them taller in adulthood. […] Oestrogen and progesterone replacement therapy may also be recommended. […] Psychological therapy, such as counselling or cognitive behavioural therapy (CBT), may be recommended.

• #2 Recombinant human growth hormone in the treatment of Turner syndrome

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2643099/

  Growth hormone therapy seems to be safe, with no adverse effects so far, on glucose metabolism or cardiac function or any association with neoplasms, but further studies are needed to give conclusive data on the issue of long-term safety. […] Nevertheless, most studies report that GH and estradiol therapy allows the girls with Turners Syndrome to attain normal adult height, pubertal development and bone mass and to maintain a good quality of life.

Zobacz więcej