Materiały źródłowe

• #1 Intersex Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/intersex

  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. […] The symptoms associated with intersex will depend on the underlying cause. They may include: Ambiguous genitalia at birth, A very small penis (micropenis), Enlarged clitoris (clitoromegaly), Partly fused labia, Undescended testes (which may turn out to be ovaries) in boys, Labial or groin (inguinal) masses (which may turn out to be testes) in girls, The opening of the penis is somewhere other than at the tip (hypospadias); in females, the urethra (urine canal) opens into the vagina, Otherwise unusual-appearing genitalia at birth, Electrolyte abnormalities, Delayed or absent puberty, Unexpected changes at puberty. […] The prognosis depends on the specific cause of DSD. With understanding, support, and appropriate treatment, the overall outlook is excellent.

• #2 Intersex – UF Health

  https://ufhealth.org/conditions-and-treatments/intersex

  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. […] The symptoms associated with intersex will depend on the underlying cause. They may include: Ambiguous genitalia at birth, A very small penis (micropenis), Enlarged clitoris (clitoromegaly), Partly fused labia, Undescended testes (which may turn out to be ovaries) in boys, Labial or groin (inguinal) masses (which may turn out to be testes) in girls, The opening of the penis is somewhere other than at the tip (hypospadias); in females, the urethra (urine canal) opens into the vagina, Otherwise unusual-appearing genitalia at birth, Electrolyte abnormalities, Delayed or absent puberty, Unexpected changes at puberty.

• #3 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. […] DSD occur in approximately 1 in 4,500-5,500 births, although prevalence rates vary widely depending upon the specific condition. Many DSD are first detected at birth due to the presence of atypical or ambiguous genitalia. 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.

• #4

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

  The first question new parents ask is „Is it a boy or a girl?” However, for an estimated 1 in 2,000 children born each year, this is a difficult question to answer. These are children born with a disorder of sex development (DSD)a group of about 60 conditions in which biological sex, or being male or female, is not clear. […] A DSD is a mismatch between a child’s chromosomes, or genetic material, and the appearance of the child’s genitals. A child may present with a DSD in infancy, childhood or adolescence. […] Most individuals with mild DSDs identify with the gender that is consistent with their chromosomes; boys if they have an X and a Y chromosome, and girls if they have two X chromosomes. However, in children with ambiguous genitalia, where it is not possible to tell if the child is a boy or a girl from the outside, the child’s gender identity may not be easy to predict.

• #5 Differences of Sex Development 101: it’s complicated

  https://www.hudson.org.au/news/differences-of-sex-development-101-its-complicated/

  Boy or girl? Its not always as simple as that. […] An estimated 1.7 per cent of babies are born with intersex conditions, although many variations are not apparent at birth. About one in 2,000 newborns has genital differences that involve a sex differentiation specialist being consulted. Others are identified later in life, sometimes not until puberty or adulthood. […] Differences of sex development or DSDs are genetic conditions where a persons X or Y sex chromosomes or their gonads or genitals are not typical, sometimes making it unclear if a newborn baby is a boy or girl. DSDs are complex genetically and clinically, with potentially hundreds of different causes. These are often referred to as intersex conditions. […] Some intersex people have both ovarian and testicular tissue, while others have atypical female or male genitalia, or male/female genitalia with variations in their internal organs and/or hormones. Some intersex conditions may be related to underlying concerns that might require medical care, but people who are intersex are generally as healthy as those who are not.

• #6 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

  Individuals with a congenital discrepancy between the appearance of their external genitalia and gonadal and chromosomal sex are classified as having differences (or disorders) of sex development (DSD). Discrepancies sufficient to prompt evaluation (excluding uncomplicated cases of cryptorchidism and hypospadias) occur in approximately 1 in 4500 live births. […] The birth of an infant with atypical genital appearance presents a unique set of challenging management issues. This is because psychosexual development is influenced by multiple factors, including the genes involved in sexual development, prenatal androgen exposure, societal and cultural factors, and family dynamics. In the past, decisions about sex of rearing were usually based on potential for reproduction and traditional sexual function and were often accompanied by complex genital surgery that can be difficult to reverse. 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. Nonetheless, there is ongoing controversy about some aspects of management. The uncertainties about adult gender identity, optimal timing of surgery, and surgical outcomes including timing of surgery should be included in informed decision-making by the parents and patient (when age appropriate). Each child and family will have unique characteristics, so all decisions must be made on a case-by-case basis. Management at centers of excellence is associated with improved medical, surgical, and psychosexual outcomes.

• #7 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. […] DSDs may present at various ages, ranging from the prenatal period to adulthood. […] DSDs can be classified based on karyotype with further subdivision in disorders of gonadal development and problems of hormone synthesis or action. […] The increased availability of next generation sequencing has allowed for the identification of many new genes involved in DSD and the advent and increased accessibility of this technology has changed the diagnostic approach and refined the molecular genetic diagnosis in many cases. […] The binary concept of gender is being interrogated. […] 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.

• #8 Disorders of Sexual Development (DSDs)

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

  Disorders of sexual development (DSDs) are a range of conditions in which a person has characteristics of both sexes. These characteristics can happen due to chromosomal, gonadal (ovaries or testes) or genital differences and they can appear at birth, during puberty or later in adulthood. […] People with DSDs can develop a variety of symptoms, which may include: Absence of genitals at birth. (Aphallia and vaginal agenesis are two examples.) Genitals that dont look specifically male or female, like an underdeveloped penis or an enlarged clitoris. […] Not everyone with a DSD will experience health complications. But some people have a higher risk of developing certain issues like: Autoimmune diseases. Congenital heart disease. High blood pressure (hypertension) or low blood pressure (hypotension). Infertility.

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

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

  Infants born with ambiguous or abnormal genitalia may have indeterminate phenotypic sex. […] DSDs may be caused by virilization of a child with 46,XX or undervirilization of a child with 46,XY. […] Congenital adrenal hyperplasia (CAH) is the most common cause of DSDs. […] Prompt diagnosis of the underlying cause of DSD is essential; 75% of those with 21-hydroxylase deficiency have salt-wasting nephropathy. […] Among all causes of DSDs, only salt-wasting CAH is considered a true medical emergency. Salt-wasting nephropathy occurs in 75% of infants born with CAH, the most common cause of ambiguous genitalia. If unrecognized, the resulting hypotension can cause vascular collapse and death. […] Other causes of DSDs are not considered medical emergencies. Time pressure should be avoided. Modern treatment of infants with ambiguous genitalia involves a team-oriented approach.

• #10 Differences in sex development — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/differences-in-sex-development/

  Differences in sex development are a group of rare conditions where chromosomal, gonadal or anatomic sex is atypical. […] The first presentation of a DSD is often around birth but can occur later, in childhood, adolescence or adulthood. […] Presenting features will differ depending on the underlying aneuploidy, hormonal disruption, or both. Ambiguous genitalia may or may not be a feature of DSD. Below are some clinical features that may alert you to an underlying DSD. […] Neonatal period: discordance between prenatal karyotype or ultrasound and appearance of genitalia in the newborn; micropenis or enlarged clitoris; labioscrotal folds: bifid scrotum or labial fusion; impalpable or undescended gonads in males; displacement of the urethra: hypospadias or chordee; pigmented scrotum; and failure to thrive, hyponatraemia and dehydration. […] Childhood: precocious puberty; short stature; and tall stature. […] Adolescence: oligo- or amenorrhoea; hirsutism; acne; and gynaecomastia. […] Adulthood: hirsutism; oligomenorrhoea; and infertility.

• #11 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. […] People born with variations in sex characteristics may present in the neonatal period with atypical genitalia, during childhood and adolescence with atypical pubertal development or in adulthood with hormone imbalance, fertility issues and/or sexual health concerns. […] Clinical features and underlying pathophysiology vary from one individual with a DSD to another. As a result, presentations can range from atypical genitalia in infancy to atypical pubertal development in adolescence to fertility concerns in adulthood. […] Simple virilising CAH may present in childhood with a rapid growth spurt, exaggerated signs of adrenarche (eg pubic hair) and virilisation of the genitalia, with clitoromegaly or penile growth without testicular enlargement.

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

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

  Delayed or absent signs of puberty in adolescence may be the first indication that a DSD condition exists; for example, when a girl does not menstruate. […] Individuals with a DSD, whether diagnosed at birth or later in development, may experience feelings of stigma, isolation, shame, anger, or depression. Most individuals born with DSD are satisfied living in their assigned gender, as are most people born without DSD; however, individuals with DSD are more likely to experience gender dysphoria, a deep and sustained dissatisfaction with their assigned gender. […] Pediatric psychologists should also assess for and provide support around these concerns.

• #13 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

  Presenting features of DSD in an adolescent may include delayed puberty, primary amenorrhea or virilisation of a phenotypic female. […] Individuals with DSD may present in the newborn period with atypical genitalia, during adolescence with atypical pubertal development, or in adulthood with fertility issues.

• #14 Causes of differences of sex development – UpToDate

  https://www.uptodate.com/contents/causes-of-differences-of-sex-development

  Infants born with genitals that do not appear typically male or female or that have an appearance discordant with the chromosomal sex are classified as having a difference (or variation or disorder) of sex development (DSD). […] The causes of DSDs that present with atypical genital appearance are presented here, grouped by karyotype and mechanism. […] DSDs with genital abnormalities sufficient to prompt evaluation occur in approximately 1 in 1000 to 4500 live births. […] The more common causes are: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency in an XX individual.

• #15 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. […] Infants born with atypical genitalia often cause confusion and distress for the family. Psychosexual development is influenced by numerous factors that include, but are not limited to, gender differences in brain structure, genes associated with sexual development, prenatal androgen exposure, interactions with family, and cultural and societal factors. […] DSDs are defined as „any problem noted at birth where the genitalia are atypical in relation to the chromosomes or gonads”. There are several types of DSDs, and their effect on the external and internal reproductive organs varies greatly.

• #16 13.3: Differences of Sexual Development – Social Sci LibreTexts

  https://socialsci.libretexts.org/Bookshelves/Psychology/Biological_Psychology/Biopsychology_(OERI)_-_DRAFT_for_Review/13%3A_Sexuality_and_Sexual_Development/13.03%3A_Differences_of_Sexual_Development

  This section discusses some of the many ways in which sexual development can differ from typical XX/male and XY/female formats. […] Chromosomal abnormalities (such as Triple X syndrome, Turner syndrome, and Klinefelter syndrome), intersex conditions, anomalous female differentiation (such as congenital adrenal hyperplasia) and anomalous male sexual differentiation (such as 5-reductase deficiency and androgen insensitivity syndrome) demonstrate some of the diverse variations of biological sex found in humans. […] In cases where hormones are not produced (or responded to) following the two most common patterns, a fetus may develop biological characteristics in between typical male and typical female structures. These people are considered to have intersex conditions. […] Prenatal exposure to androgens is the most common cause of anomalous sexual differentiation among females. Congenital adrenal hyperplasia (CAH) develops when excessive production of androgens by the adrenal cortex occurs due to a missing enzyme. In a female (XX) fetus, the elevated androgen levels result in varying degrees of masculinization of the external genitalia. As a result, the baby’s sex may appear ambiguous or may even be mistaken as male. CAH is the most common cause of intersex conditions.

• #17 12.3: Differences of Sexual Development – Social Sci LibreTexts

  https://socialsci.libretexts.org/Courses/Sacramento_City_College/Psyc_310%3A_Biological_Psychology_(Keys)/12%3A_Sexuality_and_Sexual_Development/12.03%3A_Differences_of_Sexual_Development

  This section discusses some of the many ways in which sexual development can differ from typical XX/male and XY/female formats. […] Atypical chromosomal make-ups (such as Triple X syndrome, Turner syndrome, and Klinefelter syndrome), intersex conditions, atypical female differentiation (such as congenital adrenal hyperplasia) and atypical male sexual differentiation (such as androgen insensitivity syndrome) demonstrate some of the diverse variations of biological sex found in humans. […] In cases where hormones are not produced (or responded to) following the two most common patterns, a fetus may develop biological characteristics in between typical male and typical female structures. These people are considered to have intersex conditions. […] Prenatal exposure to androgens is the most common cause of anomalous sexual differentiation among females.

• #18 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Disorders-of-Sex-Development-(DSD).aspx

  Differences in sex development (DSD) encompass a range of rare conditions that impact genes, hormones, and reproductive organs, including genitalia. These conditions lead to variations in sex development compared to the typical patterns. […] DSDs can also arise due to alterations in chromosomal, gonadal, hormonal, and ductal sex, as well as external genitalia characteristics. […] Some common phenotypic features of Turner syndrome include winged neck, cleft palate, short stature, sexual infantilism, and shield chest. […] About 95% of women with TS are infertile; however, some may experience menstruation and even become pregnant. […] Some of the most common phenotypic features of Klinefelter syndrome include infertility, hypogonadism, atrophy and hyalinization of the seminiferous tubules, increased number of Leydig cells, as well as small and hard testes.

• #19 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. […] Symptoms: Tall stature, gynecomastia, small testes, azoospermia, learning difficulties. […] Symptoms: Lymphedema, webbed neck/low hairline, high-arched palate, shield chest/wide-spaced nipples, short stature, streak ovaries, coarctation of aorta or other CV defects, learning difficulties.

• #20 Klinefelter syndrome – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/klinefelter-syndrome/symptoms-causes/syc-20353949

  Klinefelter syndrome may affect testicular growth. This results in smaller testicles, which can lead to making less of the hormone testosterone. The syndrome also may cause smaller muscle mass, less body and facial hair, and extra breast tissue. The effects of Klinefelter syndrome vary, and not everyone has the same symptoms. […] Symptoms of Klinefelter syndrome vary widely. Many children with Klinefelter syndrome show few or only mild symptoms. Most often the condition isn’t diagnosed until puberty or adulthood, or it may never be diagnosed. For others, the condition has a noticeable effect on growth or appearance. Klinefelter syndrome may affect development, physical appearance, sexual development and mental health. […] Klinefelter syndrome may affect development, physical appearance, sexual development and mental health.

• #21 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Disorders-of-Sex-Development-(DSD).aspx

  Common phenotypic features of Swyer syndrome include the presence of female external genitalia at birth, as well as the lack of secondary sex features like breast development or pubic hair growth during puberty. […] Differences in ovarian development include ovotesticular and testicular DSDs, as well as gonadal dysgenesia. […] Differences in testicular development, which are otherwise referred to as 46,XY DSDs, comprise complete or partial gonadal dysgenesis, gonadal regression, and ovotesticular DSD. Androgen-related differences can also lead to 46,XY DSDs, some of which include 5 reductase deficiency, AMH differences, cloacal extrophy, leutinizing hormone (LH) receptor defects, as well as defects in androgen synthesis.

• #22 Disorders of sex development – Wikipedia

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

  In XX chromosome fetuses, excess androgens result in ambiguous genitalia. This makes identification of external genitalia as male or female difficult. Additionally, the individual may have clitoromegaly, a shallow vagina, early and rapid growth of pubic hair in childhood, delayed puberty, hirsutism, virilisation, irregular menstrual cycle in adolescence and infertility due to anovulation. […] In XY chromosome fetuses, excess androgens result in a functional and average-sized penis with extreme virilisation, but the inability for sperm production. Additionally, the individual will also experience early and rapid growth of pubic hair during childhood and precocious puberty stages. […] Sexual anomalies often generate from genetic abnormalities caused by many factors, leading to different sexual development. These genetic abnormalities occur during the prenatal stage of an individual’s fetal development.

• #23 Differences of Sex Development (DSD) Panel Test – PreventionGenetics

  https://www.preventiongenetics.com/testInfo?val=Differences-of-Sex-Development-%28DSD%29-Panel

  46,XX DSD relate to excess androgen and are characterized by ambiguous or male external genitalia, mullerian aplasia, hyperandrogenism and primary amenorrhea. […] Clinical management of DSD is often difficult and currently only 13% patients receive an accurate clinical genetic diagnosis. An accurate diagnosis is critical to predict the occurrence of life-threatening crises, response to hormone replacement therapy, eventual gender, fertility, and recurrence risk. […] DSD are complex conditions caused by a wide range of genetic anomalies. They can be inherited in an autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), and Y-linked (YL) manner, or arise de novo depending on the gene involved. […] Androgen insensitivity is the most common form of DSD and is caused by a mix of missense, protein truncating variants, and deletions in the AR gene. Pathogenic variants in the AR gene have been reported in 9.4% (26/278) of 46,XY DSD patients.

• #23 Differences of Sex Development (DSD) Panel Test – PreventionGenetics

  https://www.preventiongenetics.com/testInfo?val=Differences-of-Sex-Development-%28DSD%29-Panel

  Candidates for this test are individuals with symptoms of disorders of sex development including both non-syndromic DSD with ambiguous or abnormal genitalia and syndromic conditions that involve additional congenital anomalies. […] Disorders of sex development (DSD) are congenital conditions with atypical development of chromosomal, gonadal, or anatomic sex. This group of disorders are highly heterogeneous and range in severity from hypospadias (1 in 250 boys), ambiguous genitalia (1 in 4,500 live births), to complete XX or XY sex reversal (1 in 20,000 births). […] 46,XY DSD include complete and partial gonadal dysgenesis (CGD) and result from incomplete intrauterine virilization. It is characterized by a 46,XY karyotype, ambiguous or female external genitalia, variable gonadal dysgenesis, hypospadias, azoospermia, and mullerian structures that range from absence to presence of a uterus and fallopian tubes.

• #24 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/868?locale=th

  Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] 46,XX DSD are conditions characterized by excess exposure to androgens. Over 95% of causes of atypical genitalia with a 46,XX genotype are due to congenital adrenal hyperplasia secondary to 21 hydroxylase deficiency. […] 46,XY DSD can be due to several etiologies and usually requires a more extensive diagnostic evaluation. […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. […] For many DSDs, long-term surgical and psychosexual outcomes remain uncertain. […] Differences of sex development (DSD) are congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. […] DSD most commonly present in the newborn period and can be classified as sex chromosome DSD, 46,XY DSD, or 46,XX DSD. […] A subset of children with DSD present at birth with atypical genitalia and without other dysmorphic features.

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

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

  Symptoms: in 21-hydroxylase deficiency, cortisol and aldosterone are not produced therefore patient present with adrenal salt/salt wasting symptoms. Also due to excess ACTH, excessive androgens are produced that can cause virilization of female infants or milder symptoms of hyperandrogenemia (like acne, premature pubarche, irregular periods) in the non-classic form. […] Symptoms: Wide phenotypic spectrum: Complete androgen receptor resistance (CAIS): female phenotype with BL inguinal hernias or with 1o amenorrhea scanty pubic hair; Partial androgen receptor resistance (PAIS): ambiguous genitalia with labial masses or male with infertility, decreased pubic hair or beard growth and gynecomastia. […] Cryptorchidism mean that the testis is not in the scrotum and is not descended by 4 months old. This is the most common congenital abnormality in boys, present in 2-4% of term male infants.

• #26 46,XY Differences of Sexual Development – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279170/

  The 46,XY differences of sex development (46,XY DSD) can result either from decreased synthesis of testosterone and/or DHT or from impairment of androgen action. 46,XY DSD are characterized by micropenis, atypical or female external genitalia, caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. Male gonads are identified in the majority of 46,XY DSD patients, but in some of them no gonadal tissue is found. Complete absence of virilization results in normal female external genitalia and these patients generally seek medical attention at pubertal age, due to the absence of breast development and/or primary amenorrhea. […] A careful clinical evaluation of the neonate is essential because most DSD patients could be recognized in this period and prompt diagnosis allows a better therapeutic approach. Family and prenatal history, complete physical examination and assessment of genital anatomy are the first steps for a correct diagnosis. The diagnostic evaluation of DSD includes hormone measurements (assessment of Leydig and Sertoli cell function), imaging (ultrasonography is always the first and often the most valuable imaging modality in DSD patients investigation), cytogenetic, and molecular studies.

• #27 Differences (disorders) of sex development – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/differences-disorders-of-sex-development/

  Clinical features of Klinefelter syndrome include testicular dysgenesis and subsequent testosterone deficiency manifesting at the onset of puberty, leading to signs and symptoms of hypoandrogenism. […] Clinical features of androgen insensitivity syndrome include female phenotype, blind-ended vaginal pouch, uterine agenesis, and primary amenorrhea. […] Clinical features of 5-alpha reductase deficiency include female external genitalia at birth, male internal genitalia, and development of secondary sexual male characteristics in puberty. […] Clinical features of congenital adrenal hyperplasia include increased or decreased androgen production, hypotension, and precocious puberty in boys. […] Clinical features of Kallmann syndrome include anosmia or hyposmia, infertility, and absent or attenuated pubertal changes. […] Clinical features of persistent Mullerian duct syndrome include normal male external genitalia, female internal genitalia, and increased risk of cryptorchidism and inguinal herniation in infancy.

• #27 Differences (disorders) of sex development – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/differences-disorders-of-sex-development/

  Treatment should be provided based on patient preference and sexual identification as well as clinical necessity backed by strong ethical principles. […] If treatment is necessary and/or desired, it generally follows a multidisciplinary approach involving hormone substitution and psychological counseling. […] Gender affirmation surgery should only be performed if the patient expressly requests the procedure and can provide informed consent. […] The clinical management of DSDs involves a multidisciplinary approach guided by clinical necessity, patient choice, and strong ethical principles. […] Types of treatment include hormone substitution, psychological support, and surgery. […] Clinical features of Turner syndrome include primary ovarian insufficiency with delayed puberty, primary amenorrhea, and infertility.

• #28 Orphanet: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency

  https://www.orpha.net/en/disease/detail/753

  A rare difference of sex development (DSD) due to a defect in metabolizing testosterone to dihydrotestosterone and characterized by incomplete intrauterine masculinization which ranges from a female genitalia with a blind vaginal pouch to a fully male phenotype with pseudovaginal posterior hypospadias and micropenis. […] Patients present at birth with characteristics of dihydrotestosterone (DHT) deficiency, such as posterior hypospadias, micropenis/clitoris-like phallus, bifid scrotum, cryptorchid testes (with normal or reduced spermatogenesis), and rudimentary prostate. The clinical spectrum is heterogeneous, ranging from a female with a blind vaginal pouch to a fully male phenotype with hypospadias and micropenis. […] The disease is caused by mutations in the SRD5A2-gene (2p23.1) leading to a reduced or absent function of the steroid 5 alpha-reductase type 2 enzyme which converts testosterone into DHT in the external genitalia. As a result, male differentiation fails to occur during fetal development, despite high circulating testosterone levels. […] Diagnostic criteria include genital ambiguity, a family history of DSD, and genital/karyotype discordance. […] For patients raised as male, the main concern is to keep the testis for later hormone production. […] The risk of gonadal tumors in individuals with SRD5A2 mutations is quite low.

• #29 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. […] People with DSDs have an increased risk for several health conditions. But with diagnosis and treatment, they live just as long as people without DSDs.

• #30 Differences of Sex Development 101: it’s complicated

  https://www.hudson.org.au/news/differences-of-sex-development-101-its-complicated/

  Some DSDs result in medical issues such as problems making or regulating hormones, development issues during puberty and possibly increased cancer risk due to undeveloped tissue. […] Babies born with intersex conditions are natural and healthy. Their long-term medical outlook is no different from other children.

• #31 Intersex variation | healthdirect

  https://www.healthdirect.gov.au/intersex-variation

  Intersex variation is also called 'differences in sex development’ or disorders in sex development’ (DSD). […] Intersex variation can happen because of differences with your genes, how your body responds to sex hormones, or both your genes and how your body responds to sex hormones. […] Many types of intersex variation do not need any medical care. […] Some physical health issues are linked to specific intersex variations. These can include problems with bone density, weight, your heart, your joints, and your fertility. […] For some people, there may be an increased chance of certain cancers. […] You should talk to your doctor to understand any issues and risks linked with your intersex variation. […] Most people with intersex variations are healthy. […] For some people, intersex features only become clear later in life. […] Speak to your doctor if you have any concerns about your child’s development at puberty. […] Doctors will check your baby for intersex signs soon after birth. If your baby’s genitals look different, they may arrange some tests.

• #32 Differences (Disorders) of Sex Development (DSDs) Clinical Presentation: History, Physical Examination, Complications

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

  Evaluation of a newborn with ambiguous genitalia requires a team effort. The most common difference (disorder) of sex development (DSD), congenital adrenal hyperplasia (CAH), results in virilization of a 46,XX female and thus is classified under the heading of 46,XX DSD. […] DSD may present beyond the neonatal period with primary amenorrhea; abnormal incidental findings on laparoscopy, exploratory laparotomy, or imaging studies; inguinal hernia in a female child; masculinization of a female child; or an abnormal karyotype on genetic evaluation for other conditions, such as short stature, infertility, and developmental delay. […] Patients with CAH are at risk for the following: adrenocortical insufficiency and vascular collapse; progressive penile or clitoral enlargement; development of premature pubic hair (puberache), axillary hair, and acne; rapid growth during childhood followed by premature epiphyseal maturation, resulting in adult short stature; impaired fertility; complications of chronic glucocorticoid treatment; disorders of gender role behavior and cognition.

• #33 Ambiguous Genitalia and Disorders of Sexual Differentiation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK557435/

  A mutation in any of these above genes may lead to the development of DSD. […] A loss of genes involved in male sexual development can lead to an undervirilized male or 46 XY with a female phenotype. […] The absence of testosterone leads to the involution of Wolffian ducts and Mullerian duct differentiate into Fallopian tubes and uterus due to the absence of anti-Mullerian factors. […] In summary, any deviation from the intricate sequence of sexual development may give rise to disorders of sexual development. […] The incidence of a child with a disorder of sexual development (DSD) is approximately 1 in 1000 to 4500 live births. […] The most frequently occurring etiology was congenital adrenal hyperplasia (CAH), followed by androgen insensitivity and mixed gonadal dysgenesis. […] The most severe complication can arise due to neonatal salt wasting in congenital adrenal hyperplasia (CAH). Early diagnosis is crucial to prevent neonatal morbidity and mortality. […] Individuals with dysgenetic gonads are at risk of developing gonadal tumors, especially those with a Y chromosome in their karyotype.

• #34 Differences of Sex Development – Clinical Tree

  https://clinicalpub.com/differences-of-sex-development/

  The major concern in the treatment of patients with XY GD is the risk of gonadoblastoma, a mixed germ-cell, sex-cord tumor. The risk of gonadoblastoma formation in XY GD increases with age and has been estimated to be as high as 30% by 30 years of age. […] 46,XY GD results from abnormal testis development in utero. The absence of secreted hormones results in a spectrum of genital phenotypes from that of a typical female presenting in adolescence with primary amenorrhea to ambiguous external genitalia. Known causative genes include SRY, SOX9, NR5A1/SF1, MAP3K1, and many others. Patients need to be monitored for risk of gonadoblastoma. […] 46,XY disorders of androgen biosynthesis affect sex differentiation and include steroidogenic acute regulatory protein (StAR), HSD3B2, CYP17A1, P450 oxidoreductase (POR), HSD17B3, and steroid 5-reductase (SRD5A2) deficiencies. […] 46,XY disorders of androgen action are caused by mutations in the androgen receptor (AR) resulting in complete or partial Androgen Insensitivity Syndrome (CAIS or PAIS).

• #35 What To Know About DSD—Previously Called Intersex

  https://www.health.com/condition/sexual-health/what-is-intersex

  There are some risks associated with gender assignment surgery. They include: Chronic pain, Inaccurate sex or gender assignment, Infertility, Mental health conditions, Patient dissatisfaction, Sexual dysfunction, Surgical complications. […] For children with DSD, that decision may result in the following: Decreased sexual function, Increased substance use disorders, Suicide. […] One study found that 53.6% of the participants who were intersex self-reported that their mental health was fair or poor. Many of the participants noted that they were experiencing: Anxiety, Depression, Post-traumatic stress disorder (PTSD).

• #36 Revista Española Endocrinología Pediátrica – Gender assignment and identity in DSD

  https://www.endocrinologiapediatrica.org/modules.php?name=articulos&idarticulo=807&idlangart=EN&preproduccion=&in_window=1

  Disorders of sex development (DSD) have a large psychosocial impact throughout life and coping with DSD, at any stage of life, remains challenging. […] The altered sexual development affects genital and sexual functioning and the fertility potential. It may affect physical appearance, and, in some patients, it may affect behavior or identity. […] The vast majority of individuals with a DSD develop a gender identity in agreement with the gender assigned at birth. However, a non-binary gender identity, gender discontentedness, gender discomfort or gender dysphoria is seen in about 8% of individuals with DSD and most frequently seen in patients with 46,XY DSD and genital hypovirilisation at birth. In these patients, development of gender identity should be monitored well, should be evaluated at least once before puberty and should be repeated in case doubts arise.

• #37 The risk of mental disorders in patients with disorders/differences of sex differentiation/development (DSD) and Y chromosome | Bajszczak | Endokrynologia Polska

  https://journals.viamedica.pl/endokrynologia_polska/article/view/65550

  Patients with disorders/differences of sex differentiation/development (DSD) are exposed to physical and mental suffering. […] A high risk of mental problems was identified in 24% of individuals (26% men, 21% women). Women, when compared with men, displayed a significantly higher mean level of anxiety and insomnia (7.3 vs. 4.6 scores) and somatic symptoms (7.4 vs. 5.5), and worse general mental health status (25.6 vs. 18.8). […] The individuals with DSD and Y chromosome in the karyotype have increased risk of developing mental problems in comparison to the general Polish population. The risk factors seem to be as follows: female gender, the lack of a vagina, the lack of virilisation (no enlarged clitoris), and no genital operations performed. In some cases, sex hormone replacement therapy may be also the risk of mental problems. Particularly vulnerable groups are CAIS, PAIS, and CGD. The psychological support and an individual approach to particular needs of these patients is necessary.

• #38 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. […] The most common times to find out that a person has a DSD are around the time of their birth or when they’re a teenager. […] Doctors will check a baby for DSD soon after birth because of signs such as undescended testicles or if a baby’s genitals look different. […] Sometimes a DSD may be diagnosed if an older child does not go through puberty properly. For example, your child may not start showing the changes linked with puberty, or they may start puberty but not have periods. […] 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. […] 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.

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

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

  Disorders of sex development (DSDs) are conditions in which the reproductive organs and genitals do not develop normally. People with DSDs have a mix of male and female sexual characteristics. […] Sometimes sexual organs are normally formed as either male or female, but growth and sexual development are disrupted at puberty. Individuals with this type of DSD have an abnormal chromosome arrangement, such as a missing or extra X chromosome. Females with a DSD called Turner syndrome, for example, are missing an X chromosome and are usually infertile and of shorter than average height. […] If sexual organs are ambiguous at birth, a child may receive a diagnosis right away. Other types of DSD do not become apparent until puberty. Partial androgen insensitivity syndrome, for example, is usually diagnosed at birth because the genitals appear different. In complete androgen insensitivity syndrome, the genitals look normal for a female, so the condition may not be picked up until a girl fails to menstruate.

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

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

  The DSD are a group of situations where a newborn is born with external genitalia, internal reproductive parts, and/or chromosomes that do not fit the typical definition of female/girl or male/boy. […] These variations can cause the external genitals to look different than one might expect based on the sex chromosomes or gonads. […] 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. […] DSD can be suspected in some babies during pregnancy based on the appearance of the external genitalia on prenatal ultrasound imaging. […] If there is suspicion for a DSD, your babys hospital team may obtain a blood sample to check some hormone levels to help learn your babys diagnosis.

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

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

  When a DSD is suspected, tests are used to confirm the diagnosis. These include chromosome analyses, blood tests to measure hormone levels, and imaging studies to examine internal sex organs. […] 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.

• #42 Differences in Sex Development – Dr. Heidi Stephany

  https://heidistephanymd.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. […] While children with DSD are normally otherwise healthy, it is possible that a newborn will have other congenital problems, including ones involving the urinary system or CAH. […] Children born with DSD may develop this issue because of an abnormal mixture of sex chromosomes. […] DSD can also be the result of androgen insensitivity syndrome, which means that a child’s body does not respond to androgens (testosterone). […] Diagnosis typically occurs shortly after birth when a newborn is examined. […] If a problem with the adrenal glands is suspected, a congenital adrenal hyperplasia (CAH) test may be performed. […] Treatment for differences of sex development will depend on the cause of these findings in a child.

• #43 46,XY Differences of Sexual Development – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK279170/

  The 46,XY DSDs are characterized by micro-penis, atypical or female external genitalia, caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. Male gonads are identified in the majority of 46,XY DSD patients, but in some of them no gonadal tissue is found. Complete absence of virilization results in normal female external genitalia and these patients generally seek medical attention at pubertal age, due to the absence of breast development and/or primary amenorrhea. 46,XY DSD can result either from decreased synthesis of testosterone or DHT or from impairment of androgen action. […] Optimal care of DSD patients begins in the newborn period and sometimes in prenatal life and requires a multidisciplinary team. Most of the well-treated DSD patients present a normal quality of life in adulthood.

• #44 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. […] There is, however, little evidence regarding the long-term impact of no treatment for the affected individuals. […] A multidisciplinary team typically includes experts in the fields of pediatric and reproductive endocrinology, genetics, urology, gynecology, psychiatry and cytogenetics with close involvement of family. […] This approach supports patient and family empowerment and full disclosure to assist patients and families in making good treatment decisions. […] It is ironic that the current controversy occurs at a time when we have made great strides in medical and surgical advances.

• #45 Differences of Sex Development | Lurie Children’s

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

  A DSD brings a complex set of physical, medical and emotional challenges affecting both the child and parents. The approach to care at Lurie Children’s is to address all of these needs in a sensitive manner. Our goal is a happy, healthy child and the best possible future for each individual in our care. […] A diagnosis of a DSD can be overwhelming, and the team at Lurie Children’s is committed to providing supportive and compassionate care for your family. Our specialists are dedicated to working with patients and families to understand patients’ hopes and goals for the future. […] Competent, collaborative multi-disciplinary care assures the best possible outcome for a child with a DSD. Our team includes multidisciplinary specialists, all of whom have specific expertise in gender and sex development.

• #46 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. […] Changes in genital appearance after birth is usually the first sign of DSD. […] The goals of management are to ensure your childs long-term emotional well-being, future sexual function and potential for fertility, and stable gender identity. […] 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.

• #47 Disorders of Sexual Development (DSD) | Norton Children’s

  https://nortonchildrens.com/services/endocrinology/services/dsd-disorders-of-sexual-development/

  An estimated 1 in 2,000 children born each year have a disorder of sexual development (DSD). DSDs include a group of close to 60 conditions in which a child’s biological sex (male or female) is unclear. Many people with a DSD prefer the term “difference of sex development” rather than “disorder.” The term “disorder” may imply a negative connotation rather than the natural genetic variation that the child experienced. […] A DSD is a condition in which a child’s chromosomes (genetic material, or DNA) and the child’s genital appearance do not match. DSDs can appear in infancy, childhood or at puberty. […] Treatment depends on the type of DSD your child experiences. Treatment may include hormone replacement therapy, emotional and psychosocial support, and surgery. […] Surgery depends on the type of DSD. For some, surgery may be needed and for others it may be an elective (optional) procedure. […] For managing a DSD, your child may need to take a medicine daily to help with keeping their hormone levels at the appropriate level.

• #48 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

  From a patient perspective, structured and continued follow-up might increase beneficial interactions with health-care professionals, potentially enhancing understanding of the specific conditions, knowledge of future medical needs and compliance with the treatment. […] Psychological support and counselling can also be offered to adults with a DSD at one or more occasions in life. Topics include dealing with the disclosure of diagnostic results or the condition itself, attaining medical files and, in patients who have not been previously or fully informed of the DSD, learning one’s story. […] The standardization of somatic assessments is crucial to secure the validity of cross-centre data pooling with the aim of revealing hitherto unrecognized health consequences and outcomes. […] Individuals who have a sex chromosome DSD are at increased risk of autoimmune disorders, metabolic disturbances and type 2 diabetes mellitus.

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

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

  Children born with differences of sex development may have sex-specific traits that arent clearly male or female. This may be referred to as ambiguous genitalia. […] Hormonal imbalances can include congenital adrenal hyperplasia (CAH), a genetic disorder that affects hormone production in the adrenal glands. In females, CAH can cause an enlarged clitoris and fused labia. Androgen insensitivity can also be the result of a hormone imbalance. Androgen insensitivity results from the bodys inability to carry out the signals from the hormones. […] Genital abnormalities include abnormal growth of the penis, scrotum, vagina, uterus, ovaries, or clitoris; impaired testicle development; or an absent or atypical vagina. […] In the appropriate setting, surgery to reconstruct ambiguous or atypical genital organs may be indicated. This could be due to physical concerns that may affect your child’s health. Later surgery may be indicated if your child has issues with sexual function or fertility.

• #50 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

  The prevalence of these conditions in men and women with 46,XY DSD is poorly documented. […] Individuals who have a DSD fear intimacy and report anxiety and distress related to sexuality, resulting in a tendency to delay or avoid sexual experience. […] Concerns exist with regards to the effects of delayed genital and gonadal surgery on social acceptance, psychological well-being, parent-child bonding, body image and sexual functioning as well as the malignancy risk of retained gonads.

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

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

  Depending on the reason for surgery, genital surgery in infants with primarily male genitalia may be performed between six and 18 months of age. Infants with primarily female genitalia may undergo surgery during this time frame as well; however, vaginal surgeries that affect fertility can wait until after puberty. […] If there is no physical concern, we often recommend waiting. Because surgery will have a significant impact on your childs life, it requires a thorough understanding of all the physical and psychological considerations. You may choose to wait until your child is old enough to make their own decision.

• #52 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

  While significant strides in the care of these individuals have been made with growing scientific knowledge, we recognize many unknowns remain. […] 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. […] Management should be comprehensive and well-balanced to a particular patients needs. […] Banning surgery for all patients with DSD conditions is equally as harmful to individualized care as demanding surgery for all patients with DSD conditions.

• #53 Disorders of Sexual Differentiation | Atrium Health Wake Forest Baptist

  https://www.wakehealth.edu/condition/a/ambiguous-genitalia

  With proper medical management, most children with ambiguous genitalia will lead healthy and normal lives. Sex assignment and corrective surgery are necessary in allowing your child to lead a fairly normal life as a boy or a girl. As a child grows up and enters puberty, there is a slight chance that they will identify with a sex other than the one they were assigned. In this case, a gender transition may be necessary. Its recommended that physicians wait until the child is around 16 years old before beginning the hormone therapy process involved in a transition.

• #54 Revista Española Endocrinología Pediátrica – Gender assignment and identity in DSD

  https://www.endocrinologiapediatrica.org/modules.php?name=articulos&idarticulo=807&idlangart=EN&preproduccion=&in_window=1

  The vast majority of individuals with a DSD developed a gender identity in line with the gender assigned at birth. A non-binary gender identity, gender discontentedness, gender discomfort or gender dysphoria is seen in about 8% of individuals with DSD. […] Development of gender identity should be monitored well, and evaluation of gender identity should be conducted before gonadectomy and/or hormonal induction of puberty, and preferably from the age of 8 years and conducted by an experienced psychologist.

• #55 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

  Differences of sex development, or DSD, is a name for a group of conditions that begin during development before birth and cause atypical development of sex organs or, sometimes, a mismatch between the chromosomal sex and the outward appearance of genitals. […] Many times DSDs can result in atypical genitals, leaving it unclear whether the genital organs are female or male. But DSD conditions also affect reproductive organs and structures inside the body, such as the gonads (testes or ovaries), vagina, uterus, and cervix. DSD conditions sometimes also affect the urinary tract. […] Some DSD conditions are discovered at birth, while others may be found during childhood or later in life. […] This will depend on the specific DSD condition. Some conditions have no impact on the child’s fertility. Others may make becoming a parent a less typical process.

• #56 Sex Development Disorders | Valley Children’s Healthcare

  https://www.valleychildrens.org/services/diabetes-and-endocrinology/conditions-we-treat/sex-development-disorders

  Children who are born with atypical genitalia may fall into one of these groups. […] This condition is inherited and passed on by an autosomal recessive gene. Autosomal recessive means that each parent carries one copy of the gene and passes on the gene to the child. Carrier parents have a 1 in 4 chance of having a child with this condition with each pregnancy. Girl babies with the condition have atypical genitalia. Boy babies don’t. […] 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. […] 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.

• #57 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. At present, a definition as Different sexual development (DSD) is currently preferred. They originate in the pre-natal stage and are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. 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. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD.

• #58 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

  The resulting dearth of evidence-based guidelines for this cohort is then compounded further by demotivation of patients and caregivers to invest in sustainable health measures. […] The development of international registries, such as the I-DSD Registry, the I-CAH Registry and the DSD Translational Research Network, was crucial in the development of collaborative research projects. […] The lack of conclusive outcome data for patients with DSDs has triggered large-scale collaborative research that initially focused on basic science projects and since 2012 began addressing clinically oriented issues and outcomes. […] Standardizing the longitudinal assessment of individuals with a DSD across centres might also provide evidence for or against controversial procedures such as surgical management of genitalia with an atypical appearance.

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

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

  Explains and educates families about the normal and abnormal processes associated with the diagnosis, including possible effects on fertility. […] Discusses short and long term reproductive and sexual health concerns. […] Provides information about possible etiology of condition, inheritance of condition, and recurrence risk to family members.

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