Sexual Development Disorders Flashcards
NROB1 (DAX)
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
turner syndrome complications
CV - coarctation, conduction abnlties, HTN, AoD horseshoe kidney thyroid, growth, sexual, and DM abnlties scoliosis, hip dysplasia ophthalmic/audiologic cognitive/behavioral
MC aneuploidy of sex chromosomes
XXY (klinefelter)
pt present w/:
ambiguous genitalia
ovaries / mullerian structures present
46,XX
congenital adrenal hyperplasia (MC 21-hydroxylase def) - AR
blood test to confirm congenital adrenal hyperplasia on newborn screen
elevated 17-hydroxyprogesterone in blood
when female presents w/: inguinal mass primary amenorrhea testes present mullerian structures absent 46, XY
complete androgen insensitivity (XL recessive)
pt presents w/ : ambiguous genitalia testes present no mullerian structures 46,XY
partial androgen insensitivity OR 5 alpha reductase def
pt presents w/: infertility / undervirilization \+/- hypospadias \+/- cryporchidism 46,XY (Not klinefelters)
partial androgen insensitivity
course of 5 alpha reductase def
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)
pt presents w/:
ambiguous genitalia
dysmorphic features +/- organ involvement
gonadal dysgenesis
Smith Lemli Opitz syndrome
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
