Materiały źródłowe

• #1 Differences in sex development

  https://www.nhs.uk/conditions/differences-in-sex-development/

  Differences in sex development (DSD) is a group of rare conditions involving genes, hormones and reproductive organs, including genitals. It means a person’s sex development is different to most other people’s. […] Many forms of DSD do not require any medical care other than understanding the baby’s development and knowing what to expect as they grow older. […] A specialist nurse in your care team can help you learn about DSD and a psychologist will help you address any concerns you have. […] A team of specialist healthcare professionals will work with you to understand your child’s condition and offer you and your child support and advice. […] Some people with DSD may need hormone therapy and psychological support. Some may want to think about altering their existing genitals, for example by using vaginal stretch techniques. […] Some people with DSD consider altering the appearance of their genitals by having surgery.

• #2 Differences of Sex Development (DSD) | Causes, Diagnosis & Care

  https://www.cincinnatichildrens.org/health/d/differences-sexual-development

  Differences of sex development (DSD) describes a group of conditions that occur early in pregnancy in which sex development is not typical. […] DSD affects people throughout the lifespan. While some conditions are discovered at birth, others may be found later, during childhood, puberty or even adulthood. DSD can affect both the genitals on the outside and the reproductive body parts on the inside of the body. […] The DSD team at Cincinnati Childrens includes doctors, nurses, psychologists, genetic counselors, child life specialists and social workers from six specialties: […] Our team works together to provide care for all ages, from counseling before birth to treatment into adulthood. […] Treatment depends on the specific condition and the issues involved. Treatment and services may include: […] Medical treatment […] Hormone therapy […] Procedures (as needed) […] Surgery.

• #3 Caring for individuals with a difference of sex development (DSD): a Consensus Statement | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-018-0010-8

  Differences of sex development (DSDs; also known as disorders of sex development) comprise a large group of congenital conditions of the urogenital tract and reproductive system, affecting human sex determination and/or differentiation. […] Holistic approaches to treatment require multidisciplinary care by teams of relevant subspecialists working in close collaboration and a strong peer support network. Primary subspecialties include endocrinology, urology, gynaecology, andrology, psychology, nursing, social work, genetics and medical ethics. […] Insufficient, or inadequate, medical care might result in adverse patient outcomes that, in turn, could impede participation in studies aimed at further improving clinical care. […] To address the aforementioned difficulties, we need to ensure that clinicians who do not have regular exposure to patients with a DSD have detailed guidance in clinical review and data collection for patients at various life stages.

• #3 Caring for individuals with a difference of sex development (DSD): a Consensus Statement | Nature Reviews Endocrinology

  https://www.nature.com/articles/s41574-018-0010-8

  Transparent and complete information is crucial for helping patients cope throughout their lives, and patients often fully understand the information only after several appointments with health-care professionals. […] Multidisciplinary care is equally important in adulthood as it is in childhood and can involve specialists from an even wider range of disciplines. […] Psychological support and counselling can also be offered to adults with a DSD at one or more occasions in life. […] With respect to the recommended provision of care by specialized multidisciplinary teams, logistical practicalities have meant that many individuals with a DSD continue to be followed by single specialists. […] The creation of multidisciplinary teams dedicated to the management of DSD conditions worldwide poses its own challenges.

• #4 Differences in Sexual Development | Endocrine Society

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

  Differences of sexual development are a group of conditions where the biological sex (being male or female) of a baby does not match the genital appearance. […] 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: Establish the diagnosis or cause of DSD, Treat the hypogonadism and its complications, With growth in some children (like Turner syndrome), With the specific endocrine management of certain conditions like congenital adrenal hyperplasia. […] The goals of management are to ensure your child’s long-term emotional well-being, future sexual function and potential for fertility, and stable gender identity. A health care team of experts from endocrinology, urology, gynecology and psychology or psychiatry can help you and your child with decisions about sex assignment, surgery and medical management as the child grows.

• #4 Differences in Sexual Development | Endocrine Society

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

  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 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.

• #5 Comprehensive Sexual Development Center | Mount Sinai – New York

  https://www.mountsinai.org/locations/kravis-childrens/services/pediatric-endocrinology-diabetes/comprehensive-sexual-development-center

  Approximately 1-2% of children are born with variations in their sex characteristics and families need compassionate, affirming, and patient-centered medical care. […] Multi-disciplinary care is critical for children with these variations. No one intervention can address all of the health and psycho-social implications associated with intersex lives. When children and families are supported, children grow to lead happy healthy lives. […] The approach to diagnosis is targeted based on sex characteristics and the care is personalized to each child so that the best possible outcome can be reached. Care must also align with the child’s cognitive and psychological development and interventions staged according to their understanding of risks and benefits. […] To promote well-being and achieve full-life outcomes, Mount Sinai Kravis Children’s Hospital established the Comprehensive Sexual Development Center (CSDC), based in the Division of Pediatric Endocrinology and Diabetes.

• #6 Disorders of Sex Development

  http://library.oumedicine.com/ReturningtoCare/90,P03079

  When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can be a difficult experience for families. […] Many genetic and environmental factors can affect the developing baby and lead to atypical genitalia. Ambiguous genitalia may make it harder to determine a baby’s gender. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers don’t know the cause. It seems to occur by chance. […] Sometimes a child with atypical genitalia is at higher risk for tumors in the sex organs. Treatment for atypical genitalia depends on the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. Treatment may also include hormone therapy.

• #7 Differences in Sex Development – UCI Pediatric Urology

  https://ucipediatricurology.com/specialties/differences-in-sex-development/

  Some babies are born with genitals that aren’t clearly male or female. This type of ambiguous development is referred to as differences in sex development (DSD). […] Occurring in roughly one out of every 100 births, differences in sex development is more common than most people may realize. […] Children born with DSD may develop this issue because of an abnormal mixture of sex chromosomes. […] Diagnosis typically occurs shortly after birth when a newborn is examined. […] Treatment for differences of sex development will depend on the cause of these findings in a child.

• #8 Differences/Disorder of Sex Development – Society of Pediatric Psychology

  https://pedpsych.org/fact_sheets/differencesdisorder-sex-development/

  The process of sex development, in which humans begin to develop male or female reproductive anatomy, starts at about six weeks after conception. Differences/disorders of sex development (DSD) are congenital conditions in which the development of chromosomal, gonadal, and/or anatomic sex is atypical. […] Determining the specific DSD diagnosis is important because some conditions, such as certain forms of congenital adrenal hyperplasia, may be associated with medical problems requiring urgent medical attention. However, most DSD conditions are not life threatening and most do not require urgent medical or surgical intervention. […] In some cases, healthcare providers and parents must engage in the complex process of deciding on the child’s gender of rearing. […] Infants or young children born with atypical genitalia may undergo genital surgery to address either urgent or life-threatening medical issues (e.g., if an outlet for urine is blocked or is not present) or non-urgent issues affecting genital function.

• #8 Differences/Disorder of Sex Development – Society of Pediatric Psychology

  https://pedpsych.org/fact_sheets/differencesdisorder-sex-development/

  Gonadectomy (i.e., removing the gonads) may be considered and is another complex decision in which potential for fertility and the individual’s established gender identity should be considered. […] Pediatric psychologists should also assess for and provide support around these concerns. […] Psychologists working with children and families affected by DSD conditions must be knowledgeable regarding issues related to sexuality, gender identity, and gender expression, and be comfortable counseling families in these areas. […] Despite limited evidence-based psychosocial interventions for children with DSD and their families, expert opinion suggests that a pediatric psychologist, or other behavioral health provider experienced in DSD, be available to support caregivers as they manage the range of emotions that may accompany a new DSD diagnosis.

• #9 Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia – Indyk – Translational Pediatrics

  https://tp.amegroups.org/article/view/16975/html

  The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. […] Achieving optimal outcomes requires open and transparent dialogue with the family and caregivers, and should harness the resources of a multidisciplinary team. […] The proper management of the infant with ambiguous genitalia requires prompt but thorough evaluation. […] Assigning a sex of rearing is a great responsibility and obligation and should not be rushed. […] Parents must be involved and made to feel included in decision-making. […] A team-based approach is optimal. […] The need for broad and longitudinal psychological support cannot be overstated. […] Psychological issues can be dynamic along the age scale through infant, childhood, adolescent and adult developmental phases. […] Achieving a balance between adequate and excessive steroid dosing in CAH can be a challenge. […] Optimal care in CAH, as with other DSDs, requires a multidisciplinary team, including urologists, geneticists, social workers, psychologists.

• #10 Differences of Sex Development (Intersex) Care | Article | GLOWM

  https://www.glowm.com/article/heading/vol-2–adolescent-gynecology–differences-of-sex-development-intersex-care/id/418293

  Differences of Sex Development (DSD) refers to a diverse group of congenital conditions within which the development of chromosomal, gonadal, or anatomic sex is atypical. This chapter discusses the diagnosis and management of DSD conditions within a multidisciplinary, patient-centered care approach. These patients have specialized and often complex care needs. […] The care of patients with DSDs may be complex, and patients frequently require support and expertise from a variety of specialists. To meet these needs, the current model of care is with a multidisciplinary approach. […] Prenatal identification of a patient with a DSD may occur upon ultrasound finding of ambiguous genitalia, genetic testing revealing a mosaic or complex sex chromosome aneuploidy, or an identified discrepancy between the chromosomal genotype with genital phenotype.

• #10 Differences of Sex Development (Intersex) Care | Article | GLOWM

  https://www.glowm.com/article/heading/vol-2–adolescent-gynecology–differences-of-sex-development-intersex-care/id/418293

  Genetics’ evaluation plays a key role in evaluating patients with DSD conditions. […] Genetic testing may aid with both diagnostic and prognostic information, and should always be accompanied by genetic counseling. […] Surgical management should be determined with a shared decision-making model that includes the patient’s input whenever possible, which may mean that some surgeries should be delayed so that the patient is able to participate in decision-making. […] Fertility preservation counseling for DSD patients is an important, evolving field that incorporates reproductive science, advancing technology, and ethical considerations. […] Care for patients with DSD involves expertise from many disciplines, which requires excellent care coordination and communication. The focus should always be primarily on the patient and their immediate and future needs, with developmentally appropriate management to foster health, independence, and confidence for our patients and their families.

• #11

• #12 Differences of Sex Development Care | University of Iowa Health Care Stead Family Children’s Hospital

  https://uihc.org/childrens/services/differences-sex-development-care

  Differences of sex development (DSD) is a group of conditions that lead to atypical development of the internal or external sex organs. These developmental differences occur before birth. […] A DSD diagnosis can be a complicated and confusing experience for children and parents. The Differences of Sex Development Service at UI Stead Family Childrens Hospital works with families to provide comprehensive and compassionate care. Our team of experts represents multiple specialties collaborating to create personalized treatment plans for each patient. […] Our team-based approach brings together all the experts needed to diagnose and manage DSD conditions. Multiple specialists can see your child in a single visit, with imaging and laboratory testing often performed on the same day. […] This team approach to care allows for easy collaboration between the experts your child needs and reduces the number of appointments required. The parents are considered a part of the childs care team, which uses a shared decision-making model.

• #12 Differences of Sex Development Care | University of Iowa Health Care Stead Family Children’s Hospital

  https://uihc.org/childrens/services/differences-sex-development-care

  A DSD diagnosis can be confusing and overwhelming for parents and patients. Thats why our team includes a child psychologist with experience in working with DSD patients and families. […] Counseling and support are built into the care plan so that families are prepared to cope with the diagnoses, complexities, and unknown outcomes as early in the process as possible.

• #13 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. The multidisciplinary team meets consist of faculty from pediatric urology, endocrinology, genetics, psychiatry, social work, nursing and a nursing coordinator. […] 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. […] 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.

• #14 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. […] Meeting with families throughout the childs development to provide support and education on long-term expectations, sexual function and fertility, and to promote positive psychosocial adjustment and self-image. […] 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.

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

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

  Offers psychosocial support to caregivers and the patient regarding diagnosis. […] Offers psycho-education to develop skills around healthy emotional and sexual well-being. […] 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.

• #15

  https://auanews.net/issues/articles/2022/october-2022/optimal-care-of-patients-with-differences-in-sex-development-paradigm-changes-and-future-directions

  What is the optimal care of patients with Differences in Sex Development (DSD)? Historically, this was a critical post-partum issue with parents urged to decide sex assignment and treatment before hospital discharge. Unfortunately, this momentous decision was based on rudimentary cytogenetics, limited surgical options, and the since discredited principles popularized by Dr. John Money. […] The Consensus Statement emphasized the importance of a multidisciplinary care model and parental (and when possible, patient) involvement to best serve this diverse but related collection of diagnoses. […] The goal of the multidisciplinary team is to educate parents regarding each aspect of care given our current knowledge and to explain the ongoing research for questions which remain unanswered. […] The benefit of the multidisciplinary model allowing for ongoing familial education and thus management choice is at risk from patient groups seeking to ban surgery.

• #15

  https://auanews.net/issues/articles/2022/october-2022/optimal-care-of-patients-with-differences-in-sex-development-paradigm-changes-and-future-directions

  So, what is the optimal care for patients with DSD? The answer in 2022 is an individualized care plan for the specific diagnosis formulated by the patient and family in conjunction with the multidisciplinary team that allows each family to learn about all currently available options and evolving health information and research.

• #16 Frontiers | Editorial: Shared decision making in pediatric differences/disorders of sex development

  https://www.frontiersin.org/journals/urology/articles/10.3389/fruro.2023.1281181/full

  Shared decision making (SDM) has been referred to as the “crux of patient-centered care.” A healthcare provider implementing SDM: 1) clearly informs their patient that there is a decision to be made; 2) provides the best evidence available on all decision options, including associated benefits and harms; and 3) supports the patient to identify their preferred option by discussing the patient’s preferences for each option outcome. When patients are unable to meaningfully participate in decision making because of young age, SDM may occur between providers and parents. Despite the benefits, barriers to SDM implementation persist; this includes both practice (time, poor fit with workflow, and lack of information designed for patient use) and systemic issues (attitudes of the provider/patient-parent and that SDM is not a standard part of care). SDM is broadly endorsed by national and international medical societies and policy makers, yet there is strong evidence of barriers and resistance to its implementation. […] Overall, this Research Topic illustrates a growing trend in DSD toward studies providing balance to the biomedical aspects of clinical management with attention to the decision-making needs and values of individual patients and families in front of us.

• #16 Frontiers | Editorial: Shared decision making in pediatric differences/disorders of sex development

  https://www.frontiersin.org/journals/urology/articles/10.3389/fruro.2023.1281181/full

  Differences/disorders of sex development (DSD) is an umbrella term for a wide variety of congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical. DSD are associated with increased incidence of infertility, gonadal cancer risks, hypogonadism, and with anatomic and cosmetic differences perceived as obstacles to satisfying sexual function. Individuals with DSD also experience an elevated risk of gender dysphoria, psychosocial distress, and pervasive challenges to psychosocial adaptation. Although heterogeneity in presentation exists (e.g., genotype, phenotype), salient commonalities exist across DSD, including the need to make decisions about care when there is no one “best” answer for all patients and families. […] Decision making in pediatric DSD is further complicated by: 1) controversial interventions (e.g., gonadal/genital surgery) that are rarely urgent; 2) decisions are commonly made when the child is too young to be meaningfully involved in the process; 3) there is substantial uncertainty regarding the potential harms and benefits associated with each option – whether performing or withholding; and 4) healthcare providers may have differing opinions about what constitutes appropriate medical care. Also, these decisions are recognized to be highly value sensitive and the available evidence regarding the short- and long-term benefits and risks of options may be limited, unclear, or subject to debate.

• #17 GUIDE Clinic for Children with Differences of Sexual Development | Children’s Mercy Kansas City

  https://www.childrensmercy.org/departments-and-clinics/endocrinology/guide-clinic/

  The GUIDE Clinic brings together a team of health care specialists from several different areas of the hospital to provide complete care for young people from birth to 21 years old with congenital adrenal hyperplasia (CAH) and differences of sexual development (DSD). […] The GUIDE team understands that individuals with CAH or DSD and their families have complex medical, psychological and social needs. […] Our goal is to care for your child as a whole person. […] Some children with differences of sexual development will have surgery as part of their comprehensive care plan. […] Any decisions regarding surgery are reached as part of a shared decision-making process that includes the families and our multidisciplinary team. […] Social and emotional support is integrated with medical care to provide guidance and treatment that is tailored to each age and stage of life.

• #18 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

  Differences/disorders of sex development (DSD) or intersex encompass a broad range of congenital variations in the complex pathways involved in the development of sex characteristics. […] An experienced multidisciplinary team that uses a shared decision-making approach with a medical, surgical, ethical, psychological and human rights framework is required to maximise long-term positive outcomes for people born with variations in sex characteristics. […] Throughout the lifespan, there can be challenging and sensitive discussions and decisions, such as the appropriate sex of rearing, gender identity, potential for future adult sexual functioning and fertility. […] Psychological support should be provided throughout the patient journey. […] A multidisciplinary approach to shared decision making is considered the crux of patient-centred care and involves simultaneous, but independent, contributions of team members from two or more disciplines.

• #18 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

  Parents of newborns with DSD should be provided with psychological support, ideally by someone with experience in DSD. […] Surgical decisions remain the most challenging and controversial area in DSD, especially if the surgery is considered irreversible. […] 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. […] People born with variations in sex characteristics often require individualised long-term hormone replacement, fertility management, sexual health counselling and ongoing psychological support.

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

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

  The pediatric endocrinologist gathers information about the childs hormone status to determine which of these treatments may be necessary or helpful. […] In some cases, surgical procedures may be considered. […] 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. […] Behavioral health support is a core component of SPROUT. Many families benefit greatly from working with a psychologist to better understand their or their childs DSD condition. […] Our psychologists often provide support to families in a number of ways, such as: Supporting the family of a newborn or toddler while they learn about DSD and their treatment options

• #20 Differences of Sex Development (DSD) – Pediatric Endocrine Society

  https://pedsendo.org/patient-resource/differences-of-sex-development-dsd/

  What to Expect After the Birth of a Baby with Atypical Genitalia […] This handout will help you understand the first steps of caring for a baby with atypical external genital development. Such conditions affect the development of the external genitalia and are called Differences of Sex Development. […] Your healthcare teams goal is to identify the likely reason that your baby has atypical genital development and identify if your baby has any needs for immediate medical treatments. […] In most instances, a team of healthcare professionals will help in the care of your baby. […] The nurse educator is another resource for information about your babys health status. […] Your babys healthcare team will check for these conditions. […] The Interdisciplinary team members can help you choose words for sharing information with your family and close friends.

• #21 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. […] With many DSD conditions, a growing child will likely begin to notice differences the condition has caused. Discussing this in an open and age-appropriate way will be one of the many ways you support your child. […] 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.

• #22 Differences of sex development: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001669.htm

  Differences of sex development (DSD) is a group of conditions in which there is a discrepancy between the external (outside) genitals (penis, scrotum, vulva, labia) and the internal (inside) genitals (testes, vagina, ovaries). Intersex is an older term for DSD. […] 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. […] 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.

• #22 Differences of sex development: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001669.htm

  Clearly, DSD is a complex issue, and its treatment has short- and long-term consequences. The best answer will depend on many factors, including the specific cause of the DSD. It is best to take the time to understand the issues before rushing into a decision. A DSD support group may help acquaint families with the latest research, and may provide a community of other families, children, and adult individuals who have faced the same issues.

• #23 Contexts of care for people with differences of sex development

  https://www.degruyter.com/document/doi/10.1515/medgen-2023-2037/html?lang=en

  The establishment of an RI for two sexes was already a complex and time-consuming process, especially for children. […] Similar challenges arise with hormone therapy for DSD, as required with impaired gonadal sex steroid production or after gonadectomy to induce puberty, maintain bone health and support physical and social well-being. […] To improve care for people with DSD and to better address sex diversity in medicine overall, we need new research efforts.

• #24 Pediatric Differences in Sex Development – Conditions and Treatments | Children’s National Hospital

  https://www.childrensnational.org/get-care/health-library/differences-in-sex-development

  When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can be a difficult experience for families. […] Sometimes a child with atypical genitalia is at higher risk for tumors in the sex organs. Treatment for atypical genitalia depends on the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. Treatment may also include hormone therapy. […] Most important, you and your family should be included early in the decision of assigning the child’s sex. Ask your healthcare provider about what is available for long-term psychological support. […] Making a correct determination of gender is important for treatment. But it’s also important for the child’s emotional well-being. Some children born with atypical genitalia may have normal internal sex organs that allow them to live normal, fertile lives. But others may have problems with fertility as adults.

• #25 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 diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. […] 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. […] Gender assignment is a complex and critical decision in the management of DSDs. The decision rests with the parents, counselled by a multidisciplinary team (paediatric endocrinologists, surgeons, paediatric urologists, gynaecologists, neonatologists, geneticists, psychologists, social workers etc.).

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

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

  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. […] Surgical treatment of DSDs frequently involves irreversible changes to the patient’s phenotype. The decision to choose this approach must be made jointly by the family and the multidisciplinary team advising the family. […] 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 need to guarantee a seamless transition from paediatric to adult care has been highlighted in several paediatric specialties, and patients with DSDs are particularly vulnerable at this juncture.

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

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

  Children born with atypical sex organs need care from specialists who help manage their physical, emotional, and social needs and their well-being. […] We help you make educated decisions about your childs care when they are infants and as they grow to adolescents. […] Your childs team may include a pediatric urologist, pediatric endocrinologist, medical ethicist, social worker, and pediatric psychologist. […] Your childs psychosocial and emotional well-being are critical parts of the process. […] We spend months discussing the impact of surgery on your child and help you understand when, how, and if surgery should be considered. […] If there is no physical concern, we often recommend waiting.

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

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

  An OHSU doctor sits with a young patient in an exam room. Dr. Casey Seideman is an OHSU pediatric urologist. She works with children and families to create custom plans for their care. […] The OHSU Doernbecher Sex Development Program treats babies and young children diagnosed with differences of sexual development. […] We know this diagnosis can be confusing and overwhelming. Our team of specialists provides care and support for your child and family in a welcoming place. […] 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.

• #28 Satisfaction with health care among people with differences of sex development (DSD) in Germany in: Endocrine Connections Volume 14 Issue 3 (2025)

  https://ec.bioscientifica.com/view/journals/ec/14/3/EC-24-0647.xml

  Our findings suggest that there is still room for improvement in the care of people with DSD. […] Access to psychological support, accurate information about the transition to adult care, information about peer groups and guidance on how the condition might affect health in the future are described as unmet needs in the treatment of young people with DSD. […] Despite the high satisfaction with care reported by most patients and parents, several unmet needs remain. These include psychological counselling, DSD training courses, and contact with self-advocacy groups. […] It is essential to ensure that all individuals with DSD have access to a specialised centre to receive care that meets their needs.

• #29 Contexts of care for people with differences of sex development

  https://www.degruyterbrill.com/document/doi/10.1515/medgen-2023-2037/html?srsltid=AfmBOopep7P-ZcTD0Ns-WaWzArmrnhtJDzlZI2HbvmP_WcHEMOjQ9sR4

  Individuals with DSD experience the same difficulties in receiving adequate care as other people with rare or very rare conditions: a need for specialised and individualised medical and psychosocial care, the presence of only a few experts, especially in adult care, long journeys to centres of expertise, and little evidence of therapies or outcomes. […] Diagnosis of DSD can only be achieved if different countries collect and share these data within the networks mentioned above. This requires complete clinical data, including medication.

• #30 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. […] 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. […] Supporting these stakeholder claims, many prominent national and international health organizations and legislative bodies have issued recommendations arguing for deferral of elective procedures until the child can actively participate in the decision-making process.

• #30 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

  Arguments for deferral focus on protecting the bodily autonomy of the child and preventing potential harm that can come from an irreversible intervention. […] However, these arguments have little supporting data, while data supporting the opposite position continues to mount. […] Organizations have repeatedly found that the data are insufficient to support DSD procedures as necessary, beneficial, or safe. […] The latest and most rigorous study that assesses long-term outcomes of patients with DSD appropriately compares large samples of individuals who did and did not have surgical interventions. […] 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.

• #31

  https://link.springer.com/article/10.1007/s10508-021-01953-6

  Controversy continues over a proposed moratorium on elective genital surgery in childhood for disorders/differences of sex development (DSD). […] A total of 66% of individuals with CAH and 60% of those with XY DSD-A thought that infancy or childhood were the appropriate age for genital surgery. […] Only 12% (CAH), 11% (XY DSD-A), and 21% (XY DSD-nA) thought they would have been better off without any surgery in childhood or adolescence. […] Case-by-case decision-making is better suited to grasping the ethical complexity of the issues at stake. […] Our data suggest that a general moratorium on elective genital surgery in early childhood would not appropriately reflect the views of persons with DSD. […] Persons with XY DSD living in the female gender are divided on this issue with many having no clear-cut view.

• #31

  https://link.springer.com/article/10.1007/s10508-021-01953-6

  Thus, our data from patient-reported outcome do not justify a straightforward, one-for-all solution of the ethical dilemmas involved in DSD medical treatment, as a general moratorium would entail. […] Instead of promoting a polarizing moratorium, more efforts should be invested in improving information on long-term outcomes, informed consent and assent, and contact with support groups on both the individual and the institutional level to support decision making.

• #32 Quality of care for people with differences of sex development (DSD) in Germany | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03467-5

  The anticipated improvement in medical and psychosocial care requires continuous monitoring. Patient-based registries systematically record the reality of care and its changes over time, with the essential aim of evaluating care. […] The results of the first benchmarking within DSDCare show that the QIs developed in the DSDCare project are applicable and implementable. They allow a direct and fair comparison of the quality of care at different levels between the centres. […] The currently observed heterogeneity of the centres may be due to the different focus on paediatrics or adult medicine as well as a speciality- or diagnosis-specific focus of care, the number of patients in the centre, and to the quality of the data, which in some cases still needs to be improved. […] This makes the DSDReg an important quality management tool for caring for people with DSD in Germany.

• #33 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. […] We support multidisciplinary individualized patient- and family-centered care of patients with DSD conditions. This is a life-long process encompassing genetic, medical, developmental, psychological, sexual, reproductive and social issues which become more prominent at particular times in a patients life. […] 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. […] 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.

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