Disorders of Sex Development Flashcards Preview

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Flashcards in Disorders of Sex Development Deck (13):
1

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

46,XX (true hermaphroditism)

2

most common cause of 46,XX

21-hydroxylase deficiency (congenital adrenal hyperplasia)

3

needs for patients with ovotesticular disorders of sex development

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

4

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

complete androgen insensitivity syndrome (46,XY)

5

complete androgen insensitivity syndrome: pathogenesis, lab findings

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

6

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

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

7

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

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

8

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

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

9

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

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

10

screening for 21-hydroxylase deficiency

measuring 17-hydroxyprogesterone levels

11

treatment for 21-hydroxylase deficiency

cortisol replacement to suppress ACTh and reduce adrenal androgens

12

21-hydroxylase deficiency: pathogenesis

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

13

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

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