SFP: congenital urogenital syndromes Flashcards
What is clitoromegaly
Clitoral width more than 6 mm length more than 9 mm
What is microphallus
Penile length less than 2.5 cm
What is the significance of the SRY gene
Needed for development of the testes; makes TDF!
What happens in the absence of SRY gene
Ovary development instead of testes
What does antimullerian hormone do
Made by Sertoli cells and causes regression of mullerian ducts; necessary to ‘shut off’ female development
What is SRY negative 46 XY
Patient does not have the SRY gene, causing the testicles to not form and lack of regression of mullerian ducts.
SRY is __ linked
Y linked
What is the presentation of SRY 46 XY
Female internal and external genitalia due to lack of androgens or AMH
How do we treat SRY 46 XY
Estrogen during adolescence, as they’ll need it to help with puberty induction and bone health
What is lipoid CAH
Mutation in coding for stAR protein causes an inability to transport cholesterol across mitochondrion membranes to be converted to pregnenolone
What is the pathophysiology of lipoid CAH
Cholesterol buildup causes cellular damage, adrenal/steroid hormones can’t be made, ACTH will be increased
What enzymatic deficiencies may cause CAH
11-hydroxylase, 17 beta HSD, 3-beta HSD
What is smith-lemli opitz syndrome
DHCR7 mutation causing 7-dehydrocholesterol reductase deficiency. This leads to less usable cholesterol and thus less testosterone/androgens
What occurs in smith-lemli opitz syndrome
Low serum cholesterol and elevated 7-DHC
What is the presentation of smith-lemli opitz syndrome
Under virilization in males, growth retardation, mental retardation, microcephaly, cardiac issues, cleft palate
What is androgen insensitivity syndrome
An issue with the function of androgen receptors
What is the inheritance of androgen insensitivity syndrome
X linked recessive
What can occur in androgen insensitivity syndrome
Undescended testes that look like an inguinal hernia
What happens to testosterone and LH in androgen insensitivity
Levels will be normal or elevated
What is the karyotype in androgen insensitivity
XY
What is the phenotype of androgen insensitivity
Usually appears female; Under virilization/female characteristics, normal testes, absent mullerian structures
In androgen insensitivity, are there wolffian or mullerian structures?
Neither! There are testes that produce AMH, but no response to androgens prevents wolffian structure formations
What happens in LH receptor mutation
Leydig cell agenesis and low production of testosterone leading to defective sexual differentiation
What happens in 5a reductase deficiency
Lack of masculinization of external genitalia due to lack of DHT
