Mehl UW bullet cases: SEX DISORDERS + NBME10 82Q. 04-15 (1)

Question 1

Mehl. various Repro Qs where mom will bring in her daughter who’s 13/14, who’s never had a menstrual period, and they’ll say she’s either Tanner stage 2 or 3. Next step?

Answer 1

schedule follow-up in 6 months.

Question 2

Mehl. The vignette will usually say both parents are average height. For example, a 14-yr-old boy is shortest in his class but has a bone age of 12, meaning is skeleton is aged 12, so he’ll catch up later. Dx?

Answer 2

Constitutional short stature.

Question 3

Mehl. 14-yr-old boy is shortest in his class + pubic hair is Tanner stage 2. The implication is he’s still very early in development and will probably catch up. Dx?

Answer 3

constitutional short stature

Sometimes instead of mentioning bone age, they’ll mention Tanner stage

Question 4

Mehl. what is most likely to occur first in a pre-pubescent female?

Answer 4

breast bud development.

Question 5

Mehl. If Q tells you there’s a fraction of a female’s cells that are 46XX and another fraction that’s 45XO (i.e., somatic mosaic Turner), the answer for the mechanism is???

Answer 5

“post-fertilization mitotic error.”

Question 6

Mehl. Tuner - cardiac pathologies?2

Answer 6

Coarctation of the aorta + bicuspid aortic valve (aortic stenosis) HY

Question 7

Mehl. 16F + 4’11” + Tanner stage 2 + scattered nevi + webbed neck + hasn’t yet had menstruation + bone age = chronologic age; Dx?

Answer 7

Turner syndrome (45XO);
genuine short stature in Turner; LH and FSH are both high; can achieve eventual pregnancy via IVF (surrogate); webbed neck = cystic hygroma (lymphatic insufficiency).

Question 8

Mehl. Anything else about Wilms tumor? related to reproductive

Answer 8

increased incidence in horseshoe kidney in Turner syndrome.

Question 9

Mehl. 15M + 4’10” + normal hormone levels + bone parents normal height; next best step?

Answer 9

Get bone age => if bone age < chronologic age, Dx = constitutional growth delay (growth curve shifted to the right; will eventually become average height);

if bone age = chronologic age, patient has genuine short stature.

Variant of constitutional growth delay Q is: rather than saying patient’s bone age is low, Q will say he is Tanner stage 2 (implying he hasn’t yet gone through puberty so will catch up).

Question 10

Mehl. 14F + Tanner stage 3; which of the following is true?

Answer 10

menarche is imminent

asks this Q straight up and it’s exceedingly HY and frequent.

Question 11

Mehl. Q can say there are undescended testes, where upon surgical reduction into the scrotum, a primitive uterus and Fallopian tubes are discovered. Dx?

Answer 11

MIF deficiency

Question 12

Mehl. 15-year-old girl is brought to the physician by her mother for not yet having a menstrual period + vagina ends in blind pouch + pubic/axillary hair is scant/absent. Dx?

Answer 12

answer = AIS.

Question 13

Mehl. 15-year-old girl is brought to the physician by her mother for not yet having a menstrual period + vagina ends in blind pouch + pubic/axillary hair is scant/absent. NEXT STEP?

Answer 13

Next best step = ultrasound first if listed, then karyotype.

Question 14

Mehl. 16F + vagina ends in blind pouch + no cervix or uterus + absent/scanty pubic and axillary hair + Tanner stage 4; Dx?

Answer 14

androgen insensitivity syndrome

next best step in Mx = karyotyping (46XY).

Question 15

Mehl.
16F + vagina ends in blind pouch + no cervix or uterus + absent/scanty pubic and axillary hair + Tanner stage 4; NEXT STEP?

Answer 15

next best step in Mx = karyotyping (46XY).

prie lenteles buvo parasyta, kad jeigu yra UG, tai daryt UG ir tada karyotyping.

Question 16

Mehl. 16F + vagina ends in blind pouch + no cervix or uterus + coarse pubic and axillary hair + Tanner stage 4; Dx?

Answer 16

Mullerian agenesis

Question 17

Mehl. 16F + vagina ends in blind pouch + no cervix or uterus + coarse pubic and axillary hair + Tanner stage 4; NEXT BEST STEP?

Answer 17

next best step in Mx = karyotyping (46XX).

Question 18

Mehl. 12-year- old girl has grown 4 inches in the past 4 months + has acne + hair on upper lip + clitoral hood is 3-4 cm. Dx?

Answer 18

5a-reductase deficiency.

Question 19

mehl. 15-year-old girl + never had a menstrual period + vagina ends in blind pouch + pubic/axillary hair is coarse. Dx?

Answer 19

Müllerian agenesis

Question 20

Mehl. Miulerian. Next best step = ultrasound first if listed, then karyotype.

Answer 20

.

Question 21

Mehl. neonate appears male but is confirmed 46XX karyotype. Dx?

Answer 21

SRY gene translocation.

Question 22

NBME 10. 82Q.
A 17-year-old boy is brought to the physician for an examination prior to participation in sports. He has no
history of serious illness and takes no medications. He was diagnosed with intellectual developmental
2 disorder at the age of 5 years. He is 165 cm (5 ft 5 in) tall and weighs 50 kg (110 lb); BMI is 18 kg/m . Vital
signs are within normal limits. Examination shows minimal facial hair. There is mild bilateral gynecomastia. The testes are Tanner stage 1. Which of the following is the most likely explanation for this patient’s gynecomastia?

Answer 22

Seminiferous tubule dysgenesis (Klinefelter) syndrome