Abnormal sexual development, precocious puberty Flashcards

1
Q

When does sexual differentiation begin to take place in utero?

A

6th week of gestation (ovaries vs testes)

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2
Q

How do gonads become testes?

A

Testes determining factor = SRY on the distal short arm of the Y chromosome (otherwise default is female)

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3
Q

When and how do duct systems differentiate in utero?

A

8th week of gestation; AMH produced by males’ Sertoli calls cause regression of the Mullerian system and stimulate abdominal descent of testes

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4
Q

What causes development of Wolffian ducts into epididymis, vas deferens, and seminal vesicles?

A

Testosterone produced by Leydig cells after 8 weeks of gestation (must be very high direct exposure)

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5
Q

What causes descent of testes through inguinal canal?

A

Testosterone

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6
Q

Genital tubercle becomes…

A

Penis vs clitoris

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7
Q

Urogenital sinus becomes…

A

Urethra vs urethra / vagina/ labia minora

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8
Q

Labioscrotal swellings become…

A

Scrotum vs labia majora

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9
Q

Differential diagnosis for 46 XX disorders where females are masculinized

A

CAH, elevated maternal androgens, aromatase deficiency

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10
Q

Timing for completion of female sexual differentiation

A

20 weeks gestation

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11
Q

CAH internal anatomy

A

Normal female anatomy because no AMH

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12
Q

Differential diagnosis for 46 XY disorder where males are incompletely masculinized

A

Androgen insensitvity, 5 alpha reductase deficiency, (less commonly) testosterone biosynthesis defects, gonadotropic resistant testes, AMH deficiency

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13
Q

Normal breast development, no pubic hair, female external genitalia, undescended testes

A

Androgen insensitivity

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14
Q

Treatment for AIS

A

Gonadectomy at 16-18 y/o after endogeneous hormonal changes of puberty

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15
Q

Masculinization at puberty, ambiguous genitalia

A

5 alpha reductase deficiency

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16
Q

46 XY with bilateral dsygenesis of testes and thus internal and external female anatomy without working ovaries

A

Swyer syndrome

17
Q

Most common gonadal tumor for individuals who are 46 XY with female phenotype

A

Gonadoblastoma (also dysgerminoma and embryonal carcinoma)

18
Q

Anorchia

A

“Disappearing testes syndrome” where testes regressed before full genitalia could develop

19
Q

Molecular trigger of adrenarche

A

Rise of adrenal androgens: DHEA, DHEAS, androstenodione (independent of GnRH axis)

20
Q

Molecular triggers of growth in a female

A

Estrogen and growth hormone (mediator IGF-1)

21
Q

Definition of precocious puberty

A

Pubertal changes before age 8 y/o

22
Q

Most common causes of precocious puberty

A

Idiopathic (74%)
CNS (7%)
Ovarian cyst or tumor (11%)
McCune-Albright syndrome (5%)

23
Q

McCune-Albright syndrome presentation

A

Disseminated cystic bone lesions that easily fracture, cafe au lait spots, precocious puberty (early production of estrogen by the ovaries)
Caused by mutation in alpha subunit of a G protein

24
Q

Why does bone age matter?

A

Estrogen can cause early fusion of growth plates which leads to early growth then stunted adult height

25
Q

Treatment of precocious puberty

A

For idiopathic, GnRH agonist

26
Q

Additional work-up after diagnosis of Mullerian agenesis

A

Imaging of renal tract (CT urogram, IVP, or renal US)

27
Q

Treatment of delayed puberty

A

Low dose estrogen followed by progesterone with menstruation or 12-24 months later