Sexual Development Disorders Flashcards Preview

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Flashcards in Sexual Development Disorders Deck (11)
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1
Q

NROB1 (DAX)

A

dosage sensitive sex reversal on X
needed for initiation of ovarian development

for a child w/ 46,XY karyotype,
DAX1 duplication > male to female sex reversal
DAX1 deletion > normal testicular development
DAX1 mutation > abnl spermatogenesis

2
Q

turner syndrome complications

A
CV - coarctation, conduction abnlties, HTN, AoD
horseshoe kidney
thyroid, growth, sexual, and DM abnlties
scoliosis, hip dysplasia
ophthalmic/audiologic
cognitive/behavioral
3
Q

MC aneuploidy of sex chromosomes

A

XXY (klinefelter)

4
Q

pt present w/:
ambiguous genitalia
ovaries / mullerian structures present
46,XX

A

congenital adrenal hyperplasia (MC 21-hydroxylase def) - AR

5
Q

blood test to confirm congenital adrenal hyperplasia on newborn screen

A

elevated 17-hydroxyprogesterone in blood

6
Q
when female presents w/:
inguinal mass
primary amenorrhea
testes present
mullerian structures absent
46, XY
A

complete androgen insensitivity (XL recessive)

7
Q
pt presents w/ :
ambiguous genitalia
testes present
no mullerian structures
46,XY
A

partial androgen insensitivity OR 5 alpha reductase def

8
Q
pt presents w/:
infertility / undervirilization
\+/- hypospadias
\+/- cryporchidism
46,XY (Not klinefelters)
A

partial androgen insensitivity

9
Q

course of 5 alpha reductase def

A

born w/ ambiguous genitalia that resemble female more than male
no mullerian structures
will virilize (maybe not completely) at puberty
gender assignment at birth to female can cause psychological problems later on, should just wait and let them decide later as far as surgery)

10
Q

pt presents w/:
ambiguous genitalia
dysmorphic features +/- organ involvement

A

gonadal dysgenesis

11
Q

Smith Lemli Opitz syndrome

A

single gene d/o - DHCR7
AR
defect in cholesterol biosynth
multiple congenital anomalies - microcephaly, holoprosencephaly, cleft palate, CHD, GU anomalies, ambiguous genitalia, syndactyly
neuro - developmental delays and seizures
can cause fetal demise