Normal and Differences in sex development (DSD)

Introduction to Differences in Sex Development (DSD)

Differences in Sex Development (DSD) refer to a group of congenital conditions where chromosomal, gonadal, or anatomical sex development is atypical. These conditions were previously known as "intersex" or "disorders of sex development," but the term DSD is now preferred to avoid stigmatization.

Key points:

  • Incidence: Approximately 1 in 4,500-5,500 births
  • Etiology: Genetic mutations, hormonal imbalances, or environmental factors
  • Presentation: Can range from ambiguous genitalia at birth to delayed puberty or infertility in adolescence/adulthood
  • Management: Requires a multidisciplinary approach involving endocrinologists, urologists, geneticists, psychologists, and ethicists


Normal and Differences in sex development (DSD)
  1. QUESTION: What is the definition of Differences of Sex Development (DSD)? ANSWER: Congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical
  2. QUESTION: Which chromosome contains the SRY gene? ANSWER: Y chromosome
  3. QUESTION: What is the function of the SRY gene in sex development? ANSWER: It initiates male sex determination by promoting testis development
  4. QUESTION: What is the most common karyotype in Turner syndrome? ANSWER: 45,X
  5. QUESTION: Which enzyme deficiency causes the most common form of congenital adrenal hyperplasia (CAH)? ANSWER: 21-hydroxylase deficiency
  6. QUESTION: What is the typical karyotype in Klinefelter syndrome? ANSWER: 47,XXY
  7. QUESTION: What is the role of anti-Müllerian hormone (AMH) in male fetal development? ANSWER: It causes regression of the Müllerian ducts
  8. QUESTION: Which gene mutation is responsible for androgen insensitivity syndrome (AIS)? ANSWER: Androgen receptor (AR) gene mutation
  9. QUESTION: What is the primary cause of 5-alpha reductase deficiency? ANSWER: Mutations in the SRD5A2 gene
  10. QUESTION: Which hormone is responsible for the development of Wolffian ducts in male fetuses? ANSWER: Testosterone
  11. QUESTION: What is the typical external genital appearance in complete androgen insensitivity syndrome (CAIS)? ANSWER: Female external genitalia
  12. QUESTION: Which chromosomal abnormality is associated with Swyer syndrome? ANSWER: 46,XY with SRY gene mutation or deletion
  13. QUESTION: What is the most common cause of virilization in female fetuses? ANSWER: Congenital adrenal hyperplasia
  14. QUESTION: What is the role of DHT (dihydrotestosterone) in male external genital development? ANSWER: It promotes the development of the penis, scrotum, and prostate
  15. QUESTION: Which enzyme converts testosterone to dihydrotestosterone? ANSWER: 5-alpha reductase
  16. QUESTION: What is the typical gonadal structure in patients with pure gonadal dysgenesis? ANSWER: Streak gonads
  17. QUESTION: Which hormone is primarily responsible for the second phase of fetal testicular descent? ANSWER: Insulin-like factor 3 (INSL3)
  18. QUESTION: What is the most common cause of 46,XX testicular DSD? ANSWER: SRY gene translocation to an X chromosome or autosome
  19. QUESTION: Which syndrome is characterized by the triad of streak gonads, webbed neck, and coarctation of the aorta? ANSWER: Turner syndrome
  20. QUESTION: What is the primary concern in patients with mixed gonadal dysgenesis? ANSWER: Increased risk of gonadal malignancy
  21. QUESTION: What is the role of SF1 (Steroidogenic Factor 1) in sex development? ANSWER: It regulates the development of the hypothalamic-pituitary-gonadal axis and adrenal glands
  22. QUESTION: Which condition is characterized by the presence of both testicular and ovarian tissue in the same individual? ANSWER: Ovotesticular DSD (formerly true hermaphroditism)
  23. QUESTION: What is the typical presentation of Leydig cell hypoplasia? ANSWER: 46,XY individuals with female external genitalia or undervirilized male genitalia
  24. QUESTION: Which gene is responsible for DAX1-associated adrenal hypoplasia congenita? ANSWER: NR0B1 (DAX1) gene
  25. QUESTION: What is the primary difference between complete and partial androgen insensitivity syndrome? ANSWER: The degree of responsiveness to androgens, resulting in different levels of virilization
  26. QUESTION: Which endocrine disorder is associated with FOXL2 gene mutations? ANSWER: Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) with ovarian failure
  27. QUESTION: What is the role of the WT1 gene in sex development? ANSWER: It is crucial for gonadal and renal development
  28. QUESTION: Which syndrome is characterized by Müllerian duct persistence in 46,XY individuals? ANSWER: Persistent Müllerian duct syndrome (PMDS)
  29. QUESTION: What is the typical presentation of 17β-hydroxysteroid dehydrogenase type 3 deficiency? ANSWER: 46,XY individuals with female or ambiguous external genitalia at birth, often virilizing at puberty
  30. QUESTION: Which gene is associated with campomelic dysplasia and XY sex reversal? ANSWER: SOX9 gene


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