Disorders of Sex Development Flashcards Preview

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Flashcards in Disorders of Sex Development Deck (16):
1

most common cause of 46 XX DSD (excessive fetal androgen production)

21-hydroxylase def

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46 XX DSD = excessive ___

fetal androgen production

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patients with ovotesticular DSD are usually

46XX

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defective functions in 46 XY DSD (4)

Defect in testicular differentiation

Defect in sertoli cell function > inadequate MIS + persistence of mullerian ducts

Defect in leydig cell function - testoterone sythesis defect, LH/HCG response defect (needed for androgen production)

defect in function of androgen target tissue (androgen insensitivity, defect in DHT synth)

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Congenital adrenal hyperplasia forms in 46 XY DSD (3)

3 beta hydroxysteroid dehydrogenase deficiency

17-hydroxylase / 17,20 lyase combined deficiency

side chain cleavage deficiency

6

consider DSD when

Genitalia do no appear 100% normal 

bilateral nonpalpable gonads

severe hypospadias, esp with nonpalpable gonads

clitoromegaly or microphallus

posterior fusion of vaginal opening / undervirilized scrotum

7

genetics Androgen insensitivity syndrome

most common presentations

X linked recessive, 46, XY

 

CAIS: female adolescent with pirmary amenorrhea and breat, no pubic hair (or female with tests discovered in inguinal hernia)

 

PAIS: highly variable (ambiguous genitalia OR phenotypically normal male with infertility)

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karyotypes for ovotesticular DSD

46XX mot common

46 XY

46XY/46XX

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genitalia and gonads in ovotesticular DSD

Ovarian and testicular tissue present (bilateral ovotestes or one of each)

external genitalia varry

internal anatomy parallels ipsilateral gonad

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androgen biosynthetic defects

low andostenedione production (rare forms of CAH with adrenal and gonadal enzyme defects)

17-ketosteroid reductase def (17-KR) (testis)

5-alpha reductase (5a-Red) def (skin)

11

genetic and mutation 5-alpha reductase def

 

morphologic impact

46XY karyotype, autosomal recessive

(impaired conversion of T to DHT

 

DHT critizal for virilization prior to birth, but T is critical at pubert

(T surge at puberty > dramatic virilization)

12

treatment for CAH - 212hydroxylase deficiency

cortisol replacement to suppress ACTH and reduce adrenal androgens

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