Disorders of Sex Development

Question 1

dx: both ovarian and testicular tissue present (ovotestis); ambiguous genitalia

Answer 1

46,XX (true hermaphroditism)

Question 2

most common cause of 46,XX

Answer 2

21-hydroxylase deficiency (congenital adrenal hyperplasia)

Question 3

needs for patients with ovotesticular disorders of sex development

Answer 3

1. laparoscopy with gonad biopsy as infant
2. surgical reconstruction to match gender assignment
3. excision of organs inconsistent with gender assignment

Question 4

dx: female adolescent with primary amenorrhea and breasts, no pubic hair

Answer 4

complete androgen insensitivity syndrome (46,XY)

Question 5

complete androgen insensitivity syndrome: pathogenesis, lab findings

Answer 5

defect in androgen receptor (X-linked recessive, karyotype 46,XY) resulting in a normal-appearing female with no pubic hair
lab findings: increased testosterone, estrogen, LH

Question 6

complete androgen insensitivity syndrome: karyotype ____, ____ develop, androgens _____, Wolffian ducts ____, MIF ____, Mullerian ducts _____, external genitalia are _____, _____ puberty _____

Answer 6

XY; testes; produced, but body cannot respond; regress; is produced; do not develop; female; feminizing; without menses

Question 7

complete testosterone biosynthetic defect: karyotype ____, ____ develop, androgens _____, Wolffian ducts ____, MIF ____, Mullerian ducts _____, external genitalia are _____, _____ puberty _____

Answer 7

XY; testes; not produced due to enzyme deficiency; regress; is produced; regress; female; feminizing; if given estrogen therapy

Question 8

5alpha-reductase deficiency: karyotype ____, inability to ______, clinical presentation and lab findings

Answer 8

46,XY; convert testosteron to dihydrotestosterone (DHT); ambiguous genitalia until puberty, when testosterone surge causes masculinization and increased growth of external genitalia (internal genitalia are normal); testosterone, estrogen, LH levels are normal

Question 9

5alpha-reductase deficiency: karyotype ____, ____ develop, androgens _____, Wolffian ducts ____, MIF ____, Mullerian ducts _____, external genitalia are _____, _____ puberty _____

Answer 9

XY; testes; testosterone but no DHT produced; develop; produced; regress; ambiguous; masculinizing; if testes left intact

Question 10

screening for 21-hydroxylase deficiency

Answer 10

measuring 17-hydroxyprogesterone levels

Question 11

treatment for 21-hydroxylase deficiency

Answer 11

cortisol replacement to suppress ACTh and reduce adrenal androgens

Question 12

21-hydroxylase deficiency: pathogenesis

Answer 12

mild to severe virilization of female fetus due to adrenal androgen excess

Question 13

21-hydroxylase deficiency: karyotype ____, ____ develop, androgens _____, Wolffian ducts ____, MIF ____, Mullerian ducts _____, external genitalia are _____, _____ puberty _____

Answer 13

XX; ovaries; no testicular androgens but excessive adrenal androgens produced; regress; not produced; develop; ambiguous; feminizing; if treated with cortisol