Materiały źródłowe

• #1 SPRING (Specialized Program that Respects Individuals and Nurtures Growth)

  https://www.nationwidechildrens.org/specialties/urology/differences-of-sex-development

  The SPRING team specializes in the care of individuals with DSD conditions, such as genital ambiguity, Androgen Insensitivity Syndrome, Congenital Adrenal Hyperplasia, Gonadal Dysgenesis, Hypospadias, Vaginal Agenesis, Mayer Rokitansky Kster Hauser (MRKH) Syndrome and Testicular Regression. […] Using a multidisciplinary approach, we provide comprehensive medical and surgical care, including: Establishing an initial diagnosis and discussing an anticipated plan of care. […] Providing long-term follow-up which may begin as counseling during the neonatal period, continue through childhood and adolescence, and through the transition to adult care. […] Offers psychosocial support to caregivers and the patient regarding diagnosis. […] Develops a treatment plan, if necessary, to include hormone replacement or substitution to promote growth and puberty. […] Discusses short and long term reproductive and sexual health concerns. […] Provides guidance to families and medical team regarding genetic testing options to further support or confirm a diagnosis.

• #2 SPRING (Specialized Program that Respects Individuals and Nurtures Growth)

  https://www.nationwidechildrens.org/specialties/differences-of-sex-development

  The SPRING team specializes in the care of individuals with DSD conditions, such as genital ambiguity, Androgen Insensitivity Syndrome, Congenital Adrenal Hyperplasia, Gonadal Dysgenesis, Hypospadias, Vaginal Agenesis, Mayer Rokitansky Kster Hauser (MRKH) Syndrome and Testicular Regression. […] Using a multidisciplinary approach, we provide comprehensive medical and surgical care, including: Establishing an initial diagnosis and discussing an anticipated plan of care. […] Providing long-term follow-up which may begin as counseling during the neonatal period, continue through childhood and adolescence, and through the transition to adult care. […] Discusses the short and long term reproductive and sexual health concerns. […] Assists with menstrual suppression, contraception and hormonal replacement therapy. […] Provides guidance to families and medical team regarding genetic testing options to further support or confirm a diagnosis.

• #3 Differences of Sex Development | Cincinnati Children’s

  https://www.cincinnatichildrens.org/service/d/differences-sex

  The Differences of Sex Development (DSD) team at Cincinnati Childrens uses an interdisciplinary approach with compassionate care to meet the complex needs of patients diagnosed with differences of sex development. […] Our treatment and long-term care is focused on the physical and psychosocial well-being of patients and their families as they manage the sensitive issues related to DSD. […] Our team works closely with families to provide excellent clinical care that is family-centered and respects the dignity and individual needs of our patients. […] Comprehensive, interdisciplinary care, with close communication among specialists in making treatment plans. […] Personalized medical and/or psychosocial treatment, and support services. […] Education and empowerment of patients and families to receive the best holistic care possible to optimize short- and long-term outcomes.

• #4 Management of the infant with atypical genital appearance (difference of sex development) – UpToDate

  https://www.uptodate.com/contents/management-of-the-infant-with-atypical-genital-appearance-difference-of-sex-development

  Management of the infant with atypical genital appearance (difference of sex development) presents a unique set of challenging management issues. […] Long-term outcome data are now available to help predict gender identity for many infants with specific DSD diagnoses and provide insight into appropriate early management decisions. […] Management at centers of excellence is associated with improved medical, surgical, and psychosexual outcomes. […] The management of infants with clinically significant DSD will be discussed here. […] Each child and family will have unique characteristics, so all decisions must be made on a case-by-case basis.

• #5 Differences (Disorders) of Sex Development (DSDs): Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/1015520-overview

  A team or multidisciplinary approach to treatment is essential; thus, gender assignment of a child with a DSD is best made after parents have been counseled by a gender medicine team. […] Modern treatment of infants with ambiguous genitalia involves a team-oriented approach. This gender-assignment team usually involves neonatologists, geneticists, endocrinologists, surgeons, counselors, and ethicists. The goal is to provide appropriate medical support and counseling regarding care and therapy. Management decisions should only be made after all the available information is explained to the family and thoroughly discussed with the multidisciplinary team. The topic of early gender reassignment remains contentious.

• #6

  https://www.healthychildren.org/English/health-issues/conditions/genitourinary-tract/Pages/Explaining-Disorders-of-Sex-Development-Intersexuality.aspx

  The family and the team of doctors will determine the best way to help the child have a happy and healthy life. This may include treatment with medications or surgery. In some cases, there is no treatment needed. It is important to discuss the risks and benefits of each treatment thoughtfully with the child’s future well-being in mind. If it is not medically necessary, any irreversible procedure can be postponed until the child is old enough to agree to the procedure (e.g. genital surgery). […] A team of medical professionals may be involved in the care of a child born with a DSD, depending on the severity. This team consists of pediatric specialists in: Endocrinology, Surgery, Urology, Psychology and Psychiatry, Gynecology, Genetics, Neonatology, Social work, Nursing, Medical ethics.

• #7 Expert Care for Differences in Sex Development (DSD)

  https://www.ohsu.edu/doernbecher/doernbecher-sex-development-program

  The OHSU Doernbecher Sex Development Program treats babies and young children diagnosed with differences of sexual development. […] We work with your family to create a custom plan for your child’s needs. Our team includes: […] A pediatric urologist, for care of the urinary tract and reproductive system […] A pediatric endocrinologist, for expertise in hormones that play a role in sexual development […] A pediatric psychologist, for mental health support […] A genetic counselor, to help you understand genetic tests and risks […] A neonatologist, who specializes in newborn care. […] We are part of the Disorders of Sex Development Translational Research Network. Its members work to advance knowledge, diagnosis and treatment of DSDs.

• #8 Disorders of sex development – Wikipedia

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

  Disorders of sex development (DSDs), also known as differences in sex development, variations in sex characteristics, sexual anomalies, or sexual abnormalities, are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. […] A team of experts, or patient support groups, are usually recommended for cases related to sexual anomalies. This team of experts are usually derived from a variety of disciplines including pediatricians, neonatologists, pediatric urologists, pediatric general surgeons, endocrinologists, geneticists, radiologists, psychologists and social workers. […] Due to the significant and life-long impacts that DSDs can have on patients and their families, it is widely accepted that children with DSDs should be managed by an experienced multidisciplinary team. Health care providers generally agree that children with DSDs should be notified early.

• #9 Disorders of Sexual Differentiation | UCSF Department of Urology

  https://urology.ucsf.edu/patient-care/children/genital-anomalies/disorders-of-sex-development

  UCSF Pediatric Urology has a comprehensive program to treat disorders of sex development. […] It is important that a child with a DSD be carefully evaluated at a multidisciplinary clinic that specializes in these disorders. Pediatric endocrinologists, urologists, psychiatrists and other specialists work together to present treatment options. These may include medications, such as supplemental hormones, to encourage pubertal development and manage other growth and development problems. Surgical reconstruction of the genitalia may also be an option, although it is not necessary in all cases. With proper diagnosis and treatment, most individuals with DSDs live normal lives. […] At UCSF we have a unique multidisciplinary clinic that provides care to families of children with ambiguous genitalia. Our experts include urologists, endocrinologists, reproductive endocrinologists, geneticists, child psychologists, a mental health nurse practitioner, nurses and social work professionals. The team meets with families to discuss diagnosis, management, goals and questions, and concerns surrounding genital surgery.

• #10 A review of the essential concepts in diagnosis, therapy, and gender assignment in disorders of sexual development | Annals of Pediatric Surgery | Full Text

  https://aops.springeropen.com/articles/10.1186/s43159-021-00149-w

  The rationale of gender assignment, therapeutic options, and ethical dimension of treatment in DSD is reviewed in detail. […] The optimal management of different types of DSD in the present era requires the following considerations: (1) establishment of a precise diagnosis, employing the advances in genetic and endocrine evaluation. (2) A multidisciplinary team is required for the diagnosis, evaluation, gender assignment and follow-up of these children, and during their transition to adulthood. (3) Deeper understanding of the issues in psychosexual development in DSD is vital for therapy. (4) The patients and their families should be an integral part of the decision-making process. (5) Recommendations for gender assignment should be based upon the specific outcome data. (6) The relative rarity of DSD should prompt constitution of DSD registers, to record and share information, on national/international basis. (7) The formation of peer support groups is equally important. The recognition that each subject with DSD is unique and requires individualized therapy remains the most paramount.

• #10 A review of the essential concepts in diagnosis, therapy, and gender assignment in disorders of sexual development | Annals of Pediatric Surgery | Full Text

  https://aops.springeropen.com/articles/10.1186/s43159-021-00149-w

  Hormonal induction at puberty in hypogonadism should attempt to replicate normal pubertal maturation to induce secondary sexual characteristics, pubertal growth spurt, optimal bone mineral accumulation together with psychosocial support for psychosexual maturation. Treatment is initiated at low doses and progressively increased.

• #11 Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development | Journal of Medical Genetics

  https://jmg.bmj.com/content/57/9/581

  The diagnostic workup that is proposed for 46,XX and 46,XY DSD is shown in figures 2 and 3, respectively. […] Timing of the DSD gene panel analysis is also important. […] However, due to the genetic and phenotypic heterogeneity of DSD conditions, the most cost-effective next steps in the majority of cases are whole exome sequencing followed by panel analysis of genes involved in genital development and function or trio-analysis of a large gene panel (such as a Mendeliome). […] Centralised pathological examination of gonadal biopsy and gonadectomy samples in one centre, or a restricted number of centres, on a national scale can help to overcome the problem of non-uniform classification and has proven feasible in the Netherlands and Belgium. […] We therefore believe that uniform assessment and classification of gonadal differentiation patterns should also be addressed in guidelines on DSD management.

• #12

  https://biomedres.us/fulltexts/BJSTR.MS.ID.005924.php

  Disorders of sex devolvement (DSD), formerly, known as ambiguous genitalia or intersex disorders, represent a spectrum of congenital conditions in which the chromosomal, gonadal or anatomic sex is atypical. […] The first step in management is to assign the correct sex of rearing in a timely manner, to avoid the issue of sex-reassignment and its devastating consequences. It should be based on multiple factors, such as genotype, the presence, location and appearance of the reproductive organs. […] Great advances have been made over recent years in the diagnosis and management of DSD, most notably in the field of molecular genetics technologies which have advanced our understanding of the disorder. […] Hormonal therapy forms an important part of the treatment of disorders of sex development (DSD). For some conditions, such as, congenital adrenal hyperplasia (CAH), which forms the majority, hormonal replacement therapy is lifesaving as both hormones necessary for survival (cortisol and aldosterone). […] Once an appropriate sex assignment has been made, the next critical step is the performance, if needed, of reconstructive surgery, such as feminizing genitoplasty in those rented a female sex.

• #13 Differences in Sexual Development | Endocrine Society

  https://www.endocrine.org/patient-engagement/endocrine-library/differences-in-sexual-development

  Many children with DSD have hypogonadism (i.e. cannot make sex hormones as teenagers and adults) and may need sex hormone replacement to start puberty. […] An endocrinologist can help your child: […] Treat the hypogonadism and its complications […] Hormone Therapy: Many children with DSD do not go into puberty on their own and would need sex hormone therapy (i.e. estrogen for those raised as girls or testosterone therapy for those raised as boys), to start and maintain puberty. […] Surgery: Genital surgery to can be delayed until the child is old enough to help make the decision. The choice to forego surgery in infancy or childhood is more commonly accepted today. Removal of gonads in case of increased risk of cancer is done in certain cases. All surgery carries risks, so talk with your child’s doctor if you are considering this option. Additional treatments will depend on each individual case. Children with congenital adrenal hyperplasia receive life-long therapy with steroids. Individuals with increased risk for fractures may receive therapies for brittle bones. Fertility can be preserved in conditions like congenital adrenal hyperplasia but is usually affected in other cases.

• #14 Disorders of Sexual Development (DSDs)

  https://my.clevelandclinic.org/health/diseases/disorders-of-sexual-development

  Depending on the severity of symptoms, a person with a DSD might need: […] Hormone replacement therapy to induce puberty and reduce the risk of DSD-related health issues like osteoporosis. […] Reconstructive surgery to change the appearance of the genitals. Unless its medically necessary, healthcare providers usually postpone irreversible procedures (like genital surgery) until children are old enough to make their own informed decisions.

• #15 Management guidelines for disorders/different sex development (DSD) | Anales de Pediatría

  https://www.analesdepediatria.org/en-management-guidelines-for-disorders-different-sex-articulo-S2341287918301637

  Disorders of sex development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. […] The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. […] The current criteria for gender assignment are based on (1) psychosexual outcomes in adults with an aetiological diagnosis, (2) the potential for fertility, (3) surgical options and (4) the need for hormone replacement therapy during puberty.

• #15 Management guidelines for disorders/different sex development (DSD) | Anales de Pediatría

  https://www.analesdepediatria.org/en-management-guidelines-for-disorders-different-sex-articulo-S2341287918301637

  Medical treatment cases that present with adrenal insufficiency (glucocorticoids and/or mineralocorticoids) require immediate initiation of replacement therapy with administration of hydrocortisone. […] Surgical treatment of DSDs frequently involves irreversible changes to the patient’s phenotype. […] The DSD Guideline specifies the different types of surgical intervention that can be performed for treatment of DSD by age and gender, including genital tubercle surgery, vaginoplasty, breast surgery, excision of Mllerian duct remnants, orchidopexy and gonadal cryopreservation. […] The decision whether to perform prophylactic gonadectomy is complex. It must be made on a case-by-case basis taking into account its potential risks and benefits as well as: (1) the assigned gender, if different from gonadal sex; (2) the risk of malignant transformation, and (3) gonadal function (hormonal function and potential fertility).

• #16 Ambiguous genitalia and disorders of sexual development (DSD)

  https://www.utmb.edu/pedi_ed/CoreV2/Endocrine/Endocrine7.html

  Sex determination and sex differentiation can be divided into a) chromosomal sex or karyotype (46 XX, 46 XY, or variants), b) gonadal sex (presence of a testis or ovary) and c) phenotypic sex (external genitalia and internal structures). […] Disorders of sexual development can be associated with ambiguous genitalia (i.e., external genitals neither appearing clearly male nor female). […] The most common DSDs are: Klinefelter Syndrome, Turner Syndrome, Mixed gonadal dysgenesis, Congenital adrenal hyperplasia (CAH), Androgen insensitivity syndrome, Cryptorchidism. […] Treatment: Testosterone replacement, spontaneous fertility unlikely. […] Treatment: Estrogen/progesterone replacement therapy, long-term follow-up (cardiovascular, bone, reproductive health, hearing), spontaneous fertility unlikely, gonadectomy only when Y fragment contains TSPY locus (risk of gonadoblastoma increased).

• #17 HIE Multimedia – Differences of sex development

  https://sbrmc.adam.com/content.aspx?productid=117&pid=1&gid=001669

  A team of health care professionals with expertise in DSD will work together to understand and treat a child with DSD and support the family. This team may include neonatologists, geneticists, endocrinologists, and psychiatrists or social workers. The specific treatment will depend on the specific cause of the DSD. Depending on the cause, surgery, hormone replacement, or other treatments are used to treat DSD. […] There have been significant changes in treating DSD in recent years. In the past, the external genitals were prioritized over chromosomes. Expert opinion has shifted to understanding that chromosomal, neural, hormonal, psychological, and behavioral factors can all have an influence on an individual. […] Many experts now urge delaying definitive surgery for as long as is healthy, and ideally involving the child in the decision, unless surgery is needed for the health of the infant.

• #18 ESPU – SPU Consensus statement 2020 – Management of Differences of Sex development (DSD) – ESPU | European Society for Paediatric Urology

  https://www.espu.org/members/documents/383-espu-spu-consensus-statement-2020-management-of-differences-of-sex-development-dsd

  Differences of sex development (DSD) represent a very diverse and broad group of a large number of congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. […] Currently, there are ongoing debates from various medical and non-medical groups regarding the optimum management of affected individuals, particularly regarding surgical intervention. […] The treatment of children with DSD conditions is best delivered in a patient- and family-centered multidisciplinary setting, in an atmosphere based on openness, commitment and trust. […] It is ironic that the current controversy occurs at a time when we have made great strides in medical and surgical advances. Mandating care, such as prohibitions of particular treatments like surgery, contradicts the atmosphere of equality, openness and trust essential to shared decision making.

• #18 ESPU – SPU Consensus statement 2020 – Management of Differences of Sex development (DSD) – ESPU | European Society for Paediatric Urology

  https://www.espu.org/members/documents/383-espu-spu-consensus-statement-2020-management-of-differences-of-sex-development-dsd

  A one size fits all treatment does not exist for patients with DSD conditions. Rather, every child deserves unique attention and alternatives, and ultimately, we affirm the rights of parents to make medical decisions for their children based on their review of all available management options, including observation, pharmacotherapy or surgery, with full disclosure of the potential risks and benefits of these options. […] We are not for or against surgery, rather support individualized attention and alternatives. Management should be comprehensive and well-balanced to a particular patients needs. It needs to take into account all medical, psychological, social and cultural considerations of the patient and their parents and care givers. […] Banning surgery for all patients with DSD conditions is equally as harmful to individualized care as demanding surgery for all patients with DSD conditions. Clearly, neither approach is correct.

• #19 Differences (Disorders) of Sex Development (DSDs) Treatment & Management: Approach Considerations, Gender Assignment, Medical Care

  https://emedicine.medscape.com/article/1015520-treatment

  Although most of these controversies remain unresolved at present, one point that has been established is that treatment must be individualized. […] The surgical procedure for a virilized female, termed feminizing genitoplasty, includes separation of the urethra and vagina, vaginoplasty, labioplasty, and clitoroplasty. […] The optimal timing of feminizing genitoplasty (ie, early or delayed) remains to be determined and requires shared decision-making with the family. […] Gonadectomy should be carefully considered if the risk of gonadal malignancy is increased or if sex hormone production is discordant with the chosen sex.

• #19 Differences (Disorders) of Sex Development (DSDs) Treatment & Management: Approach Considerations, Gender Assignment, Medical Care

  https://emedicine.medscape.com/article/1015520-treatment

  The goal should be the development of happy and healthy children and adults throughout their lives. Treatment decisions should be made jointly between parents and the multidisciplinary team. […] Medical therapy for DSDs depends on the underlying cause. Glucocorticoid and mineralocorticoid replacement is indicated in patients with congenital adrenal hyperplasia (CAH). […] There are several controversies surrounding the management of DSD. […] The gender assigned by the physician and family may not correlate with the gender preferred by the patient upon reaching adulthood. […] Therefore, some guidelines and advocacy groups recommend delaying surgical intervention until patients are able to make their own decisions about it. […] A critical issue is the timing of genital reconstruction.

• #20 A Call to Update Standard of Care for Children With Differences in Sex Development | Journal of Ethics | American Medical Association

  https://journalofethics.ama-assn.org/article/call-update-standard-care-children-differences-sex-development/2021-07

  These results support deferral of intervention, as DSD individuals were more likely to change assigned gender than the general population. […] We call on clinicians to heed these repetitive calls to action and to recognize that when an individual is born with atypical genitalia that poses no physical risk, treatment should focus not on surgical intervention but on psychosocial and educational support for the family and child. […] Cosmetic genitoplasty should be deferred until children are old enough to voice their own views and meaningfully assent to undergoing surgery.

• #20 A Call to Update Standard of Care for Children With Differences in Sex Development | Journal of Ethics | American Medical Association

  https://journalofethics.ama-assn.org/article/call-update-standard-care-children-differences-sex-development/2021-07

  For years, physicians have debated how best to care for children with differences in sex development (DSD, also termed intersex). […] While some have instituted full deferral of cosmetic procedures, standard of care remains an interdisciplinary team approach informed by parents wishes. […] As the medical community hesitates to institute full deferral, citing absence of long-term data, legislation restricting early procedures is mounting. […] Today, intersex children continue to receive early cosmetic genital surgery at medical institutions across the United States and worldwide. […] Yet there is little evidence to show surgical intervention supports these childrens best interests. […] This recommendation focuses on shared decision making with the parents. […] Many individuals upon whom these procedures were performed have come forward as adults to share their dissatisfaction and health complications.

• #21 Differences of Sex Development (DSD) | Ambiguous Genitalia | Duke Health

  https://www.dukehealth.org/pediatric-treatments/pediatric-endocrinology/disorders-of-sex-development

  We explain the ethical, emotional, and psychological considerations of treatment. […] Your childs psychosocial and emotional well-being are critical parts of the process. […] We provide the full range of support. […] In the appropriate setting, surgery to reconstruct ambiguous or atypical genital organs may be indicated. […] Depending on the reason for surgery, genital surgery in infants with primarily male genitalia may be performed between six and 18 months of age. […] Your doctor may also recommend non-surgical techniques, such as gentle vaginal stretching or dilation to improve the function of the vagina, for example. […] If there is no physical concern, we often recommend waiting. […] However, if and when you choose surgery for your child, its comforting to know that we are recognized for the depth of our expertise.

• #22 Psychological support for individuals with differences of sex development (DSD) – PubMed

  https://pubmed.ncbi.nlm.nih.gov/38507969/

  Objective: Congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex characteristics are referred to as Differences of Sex Development (DSD). Psychosocial care is recommended to be an integral part of clinical management for individuals with DSD. […] A majority of the participants reported that they had not received psychological support, in childhood and/or adolescence (70.6%, n = 692) nor in adulthood (67.9%, n = 661). Need for psychological support in childhood and/or adolescence was reported by 51.3% (n = 503), need for psychological support in adulthood, was reported by 49.5% (n = 482). The majority (80.2%; n = 718) agreed with the statement that people with DSD should always be offered psychological support. According to 78.7% (n = 697) of the participants, parents of children with DSD should always be offered psychological support.

• #22 Psychological support for individuals with differences of sex development (DSD) – PubMed

  https://pubmed.ncbi.nlm.nih.gov/38507969/

  Our findings support the existing consensus that psychological support should be an integral part of DSD care. The discrepancy between received and perceived need for psychological support suggests that individuals with DSD experience barriers to access mental health care services. Psychosocial and psychological services for children, adolescents and adults should therefore be available and offered throughout the lifespan to individuals with DSD.

• #23 Differences of Sex Development Clinic | Children’s Hospital New Orleans

  https://www.manningchildrens.org/services/genetics/differences-of-sex-development-clinic/

  Children who are born with genitals, organs, and sex chromosomes that do not fit into typical male or female categories have a condition called differences of sex development (DSD). This diagnosis can mean different things to each family, too. Some children have medical concerns that may need treatment, and other children need space to understand their own bodies. […] If monitoring or medications are recommended, they will discuss these options with you so that you can make the best decisions about your child’s care. […] Our pediatric urologists are dedicated to providing information about surgical options for your child. We are here to provide information and support in conjunction with the entire clinical team, whenever the time is right for you and your child. […] Our child psychology team provides expertise to help you and your child understand what a DSD diagnosis means to you and your family. We are available to support your child and your family as your child grows up and learns more about body image and gender identity.

• #24 Helping Caregivers of Children with Differences/Disorders of Sex Development Decide on Treatment – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599377/

  Differences/disorders of sex development (DSD) encompasses congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. Clinical management commonly involves irreversible procedures performed in early life where right treatment decisions (eg, genital surgery) do not necessarily follow from specific diagnoses. […] Stakeholders identified the following as essential: providing balanced information about treatment options and associated risks and benefits, diagnostic tests (biochemical, genetic, imaging, exploration under anesthesia) and their timing, and how to interpret incidental genetic findings and carrier status; interpreting relationships between test results and gender of rearing decisions; eliciting caregiver values and preferences; using personal stories; coaching caregivers in effective communication with the health care team; disclosing conflicts of interest; addressing health literacy; and delivering an internet-based DST.

• #24 Helping Caregivers of Children with Differences/Disorders of Sex Development Decide on Treatment – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK599377/

  Despite calls for an interactive web-based DST, few families used the tool as intended, and few clinicians mentioned its use during clinic encounters. Specific training in integrating the DST in the context of usual care is needed to increase its use, which, in turn, creates the opportunity to assess its value in structuring communications that reflect the shared decision-making process.

• #25 Disorders of Sexual Development (DSD): Diagnosis and Treatment

  https://www.massgeneral.org/children/disorders-of-sexual-development/diagnosis-treatment

  Treatment for DSD is based on what is causing the condition. You and your family are an important part of your babys care team. Doctors will talk with you about your babys condition and their sex of rearing. The sex of rearing is the sex assigned to your baby before they go home. The care team can help you make the decision about your babys sex. This does not have to be a permanent decision. As babies grows up, they can learn how to express their gender identity. […] Many babies grow up to be comfortable with their sex of rearing. However, some babies with DSD decide they might be more comfortable with a different gender when they are older. Emotional and psychological support from you and your babys care team is important no matter what decisions are made. […] Depending on the reason for DSD, some people may not be fertile because their bodies cannot make eggs or sperm. However, this does not interfere with the ability to lead a good life, to marry (if wished), adopt children (if wished) or have children by other means. If you have questions or concerns about your babys fertility when they are older, please ask the care team. […] The sex determined by the chromosome is also important. Babies who have XX chromosomes usually have different reasons for DSD than those who have XY chromosomes. Based on your babys test results, they can help develop a care plan.

• #26 A guide to differences/disorders of sex development/intersex in children and adolescents

  https://www1.racgp.org.au/ajgp/2020/july/differences-disorders-of-sex-development-intersex

  There is currently no consensus in relation to the need for, or optimal timing of, many surgical interventions. […] Delaying surgery for functional gonads allows time for exploration of gender identity, which may differ from assigned sex; however, it is important to bear in mind the lack of robust surveillance methods to predict malignancy risk if dysgenetic gonads are left in situ. […] A major consideration in paediatric decision making is respecting parental views/wishes and the impact on the individual as they become more aware of their diagnosis and involved in decision making. […] Each individual case should be discussed on its own merit, with due consideration given to available evidence on benefits versus risks for a particular procedure as well as psychosocial, cultural and personal circumstances. […] People born with variations in sex characteristics often require individualised long-term hormone replacement, fertility management, sexual health counselling and ongoing psychological support.

• #27

  https://www.healio.com/news/endocrinology/20120325/research-into-outcomes-of-treatment-for-children-with-differences-of-sex-development-demands-caution

  Over the past 15 years, there has been a growing chorus of voices medical professionals, parents and affected adults calling for more research into long-term effects of medical treatment of children with differences of sex development. […] After decades of treatment, two of the most commonly voiced concerns are that we still lack evidence-based guidelines for making decisions about elective genital surgery or about prenatal treatment with dexamethasone to prevent genital virilization in girls with congenital adrenal hyperplasia. […] Research is critically needed into outcomes of treatment for children with DSD. I applaud the researchers and clinicians who are turning their attention to this important matter. Remembering the mistakes of the past, however, with clinical research and with treatment of DSD, I also beseech them to proceed with caution.

• #28 Variations in sex development – individualised approaches to treatment

  https://www.meduniwien.ac.at/web/en/about-us/news/detailsite/2019/news-im-september-2019/variations-in-sex-development-individualised-approaches-to-treatment/

  „When a baby is born, it is not always immediately obvious whether it is a boy or a girl. Variations in sex development and rare paediatric hormonal disorders are the subject of the European Society for Paediatric Endocrinology (ESPE) Meeting being held in the Austria Center Vienna from 19 to 21 September 2019. […] There has recently been a rethink in medical strategy when it comes to irreversible procedures, which are now avoided where possible.” […] „In some variations in sex development, the identity is undisputed and the people in question are even able to have children when they reach adulthood,” explains Riedl. […] „We have now had a rethink. The affected children are seen as unique individuals, their families provided with psychological support and self-help groups are involved in their management,” says Riedl. „Early treatment is only given in a few specific cases in addition to medically necessary hormone treatment, this might also include relocation of the urethra or removal of non-functional gonads, which could develop into a tumour. In all other cases based on the right to physical integrity decisions are left as long as possible, until puberty or later,” explains the experienced endocrinologist. If the soon-to-be teenager is still not sure of their gender identity when they start puberty, it is even possible to delay puberty by giving hormone blockers.”

• #29 Frequently asked questions about differences of sex development | University of Iowa Health Care Stead Family Children’s Hospital

  https://uihc.org/childrens/health-topics/frequently-asked-questions-about-differences-sex-development

  Thats why our multidisciplinary team approach to care is so important. Our specialists consult and collaborate to deliver personalized care for every patient. Your child can be seen by multiple specialists in one place, all during the same visit, and you can more easily participate in shared decision-making about your childs care. […] Our team includes a child psychologist who will be available beginning with your first visit, providing counseling and support, including assistance with discovering the best ways to discuss DSD with your child.

• #30 Treatments for Ambiguous Genitalia | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/atypical-genitalia-differences-of-sex-development/treatments/

  The Supportive Program for a Range of Urogenital Traits (SPROUT) team uses a multidisciplinary model to work with families as they navigate the complex decisions around treatment and care associated with a DSD diagnosis. […] Our team specializes in supporting patients and families in understanding DSD conditions and treatment. […] In some DSD conditions, hormone therapy may be recommended. Two types of hormone treatments may be needed or considered. […] The pediatric endocrinologist gathers information about the child’s hormone status to determine which of these treatments may be necessary or helpful. […] In some cases, surgical procedures may be considered. […] This is no longer the standard of care and is not in line with the current surgical practice of the SPROUT team at Lurie Childrens. We presently utilize the expertise of our multidisciplinary team to ensure that patients are provided with compassionate care and that information is provided to parents and patients in a transparent nature that helps determine if any surgical care should be considered.

• #31 Disorders or Differences of Sex Development | SpringerLink

  https://link.springer.com/10.1007/978-3-030-23709-7_1

  Disorders or Differences of sex development (DSD) refer to a diverse group of conditions in which chromosomal, gonadal, or anatomic sex development is atypical. […] Many different health care professionals may be involved and diagnostic evaluation as well as long-term care is ideally provided by a multidisciplinary team. […] In parallel, questions have been raised about the necessity and the timing of interventions with more emphasis on the right of the affected individuals to be involved in decisions regarding treatment. […] Full disclosure is essential for people to be able to make informed decisions. […] Support groups are increasingly involved in discussions about optimal care and in defining research priorities. […] Caring for individuals with a difference of sex development (Dsd): a consensus statement.

• #32 Exploring differences of sex development – Children’s NationalSearchLink to: 3D printed implant used to repair knee cartilageLink to: Multidisciplinary care for children with urogenital differencesScroll to top

  https://innovationdistrict.childrensnational.org/exploring-differences-of-sex-development/

  Eric Vilain, M.D., Ph.D., analyzes the genetic mechanisms of sex development to give families more answers that will help them make better treatment (or non treatment) decisions for a child diagnosed with DSD. […] The primary goal, though, is to really shine light on the complexity of this hot topic, and share how powerful genetic tools can be used to provide vital, concrete information for care providers, patients and families to assist with difficult treatment (and non-treatment) decisions. […] „A minority of DSD cases are able to receive a genetic diagnosis today,” he points out. „But geneticists know how important it is to come to a diagnosis and so we seek to increase the number of patients who receive a concrete genetic diagnosis. It impacts genetic counseling and reproductive options, and provides a better ability to predict long term outcomes.”

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