01a: Congenital Abnormalities, Pharm Flashcards
(61 cards)
SRY gene allows development of (X), which produce (Y). (Y) prevents F reproductive tract development.
X = testes Y = MIS (aka anti-mullerian hormone) from Sertoli cells
Formation of F reproductive tract: uterine tubes undergo (lateral/vertical) fusion and the uterine septum is (formed/resorbed).
Both;
Resorbed
T/F: Mullerian anomalies (failure of F reproductive tract to form normally) is linked to an abnormal karyotype.
False - unknown etiology, but karyotype usually normal
Clinical findings of mullerian anomalies (poorly formed F reproductive tract)
- Dysmenorrhea/amenorrhea (obstruction; blood flow can’t get out)
- Recurrent miscarriage/preterm delivery (small uterus)
14 y.o. F presents with primary amenorrhea and pelvic pain. You find a mullerian anomaly via ultrasound. What else should be evaluated in this patient?
- Renal system
2. hearing disorders
Agenesis of one mullerian duct forms (X) uterus.
X = Unicornuate
Failure of lateral fusion can form which abnormal uterus/structures?
- Bicornuate (some distal fusion of uterine tubes)
2. Didelphys (no fusion at all - two separate tubes)
Failure of vertical fusion can form which abnormal uterus/structures?
- Transverse vaginal septum
2. Imperforate hymen
Most common mullerian anomaly:
Septate uterus (failure of resorption of uterine septum)
Injecting dye into uterus to determine mullerian anomaly will not allow differentiation between which two types of uterine anomalies?
Septate and bicornuate (need MRI/laproscopy to see if top of uterus has midline dip or is round)
DES was a(n) (X) prescribed to millions of women in 1945-1971 to prevent miscarriage. It was withdrawn due to its ability to cross placenta and alter which gene families?
X = estrogen analogue
Hox, Wnt (genes that affect reproductive tract differentiation)
List some reproductive tract abnormalities associated with DES.
- Uterine hypoplasia
- T-shaped cavity
- Transverse vaginal ridge
- Cockscomb cervix
In addition the the multiple reproductive tract abnormalities, DES is associated with (X)-fold increased risk of (Y) cancer
X = 40 Y = vaginal clear cell carcinoma
T/F: All enzyme deficiencies causing Congenital Adrenal Hyperplasia are transmitted in AD fashion.
False - AR
Most severe form of CAH:
“Classic”, early-onset (21-hydroxylase deficiency)
“Classic” CAH/21-hydroxylase deficiency presents at (X) age in F with which key findings?
X = neonatal period/early infancy
Adrenal insufficiency and ambiguous genitalia (maybe with salt wasting)
“Classic” CAH/21-hydroxylase deficiency presents at (X) age in M with which key findings?
X = early childhood
Early virilization/masculinization
“Nonclassic” CAH is (X) deficiency.
X = 21-hydroxylase (late-onset)
17 y.o. F presents with hirsutism, irregular menses, and acne. This is consistent with (classic/nonclassic) CAH.
Nonclassic (late-onset)
Mutation of SRY resulting in no testis, MIS, or testosterone results in (X) syndrome with (functional/non-function) (M/F) genitalia.
X = Swyer
Non-functional
F (uterus and external genitalia)
Patients with Swyer syndrome typically present to physician in (X) period of life due to which key symptom?
X = adolescence Delayed puberty (non-functional gonads)
Pt is 46, XY but has undescended testes and F external genitalia. You find super high T levels in the blood, so diagnosis is likely (X). Is MIS present or absent?
X = Androgen insensitivity syndrome (dysfunctional androgen receptors)
Present
Complete androgen insensitivity syndrome follows which inheritance pattern?
X-linked R (androgen R gene mutation)
Partial Androgen Insensitivity Syndrome, aka (X) syndrome, have (M/F) external genitalia.
X = Reifenstein’s
Ambiguous (small amount of androgen action)
