NBME 24 Increased serum testosterone concentration (NBME Answers)

NBME 24 Answers

nbme24/Block 2/Question#49 (reveal difficulty score)
A 17-year-old girl comes to the physician ...
Increased serum testosterone concentration 🔍 / 📺 / 🌳 / 📖
tags: repro

+80 upvote downvote
submitted by ∗seagull(1933)

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at BMI 15 not only has she never had a period but she never had a meal.

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sympathetikey You're on fire man lol +2

monkey How the fuck is it not related to anorexia nervosa is beyond me. +4

avarkey the blind vaginal pouch points away from it being anorexia related +5

j44n Its actually a man, there's no DHT to to dev the external genitals. +1

am4140 @monkey - with real anorexia, she wouldn’t necessarily have boobs either. If she’s got boobs she has the nutrition to develop boobs. That was my thought. +

freckles the patient is actually what ever gender they want to identify as. If this was a 5 alpha reductase deficiency the patient would have experienced masculinization of external genitalia during puberty when testosterone levels increase significantly. The pt most likely has Androgen Insensitivity Syndrome. +7

weirdmed51 BLIND VAGINAL POUCH = never ever ever in anorexia nervosa! It is an anatomical defect, hence not psych prob. +

+36 upvote downvote
submitted by ∗lsmarshall(465)

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Androgen Insensitivity Syndrome - Defect in androgen receptor resulting in normal-appearing female (46,XY DSD). Functioning testes causes increased testosterone at puberty, which is converted to estrogen peripherally, giving female secondary sexual characteristics (female external genitalia). Lack of androgen receptor function leads to absent or scant axillary and pubic hair. Patients have rudimentary vagina, but uterus and fallopian tubes absent.

Androgen insensitivity syndrome is the answer but you might have considered Müllerian agenesis (Mayer-Rokitansky- Küster-Hauser syndrome).

Mullerian agenesis will have normal hormone levels and may present as 1° amenorrhea (due to a lack of uterine development) in females with fully developed 2° sexual characteristics (functional ovaries). Hair development is normal as well. Patients also have normal height.

Seems like this question did not give us much to distinguish besides height and tanner stage 1 pubic/axillary hair.

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dbg 100% agreed. Mullerian agenesis was on my mind too. The full breast development kept me fixed at this dx. Did not think how high testosterone at this age and insensitivity would push towards peripheral conversion to estrogen and hence breast development. Thanks. +

makingstrides Mullerian agenesis: absent vagina, uterus/cervix because no mullerian system. Yet, still has secondary characteristics ie: breast, pubic hair, normal hormone levels (normal ovaries). Also check to break down the different subtypes of DSD: CAIS, 5alpha reductase deficiency, and swyer syndrome all for XY DSD. Where as for XX DSD, overproduction of gestational androgenism and placental aromatase deficiency. Bc in CAIS the testosterone receptor is dysfunctional, no external / internal male organs are going to form in an XY fetus, but you will have an extra production testosterone (like explained above) leading to increased estrogen (breast growth), but since no ovaries, you dont have the mullerian system. You are left with a vagina with a blind pouch (from lack of functioning receptors) +

makingstrides Also to add, there are testes that produce the MIH, so you have degeneration of the mullerian system. From B&B +

+5 upvote downvote
submitted by ∗utap2001(27)

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1- poor female genitalia(blind pouch vagina), true male -> AIS, androgen insensitivity
2- poor female genitalia, true female -> Mullerian agenesis
3- poor male genitalia(micropenis), true female -> CAH, adrenal hyperplasia
4- poor male genitalia(micropenis, macroclitoris), true male -> 5a reductase deficiency

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+1 upvote downvote
submitted by ∗abhishek021196(119)

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Androgen insensitivity syndrome

Defect in androgen receptor resulting in normal-appearing female (46,XY DSD); female external genitalia with scant axillary and pubic hair, rudimentary vagina; uterus and fallopian tubes absent due to persistence of anti-Müllerian hormone from testes.

Patients develop normal functioning testes (often found in labia majora; surgically removed to prevent malignancy). High testosterone, estrogen, LH (vs sex chromosome disorders).

Paramesonephric (Müllerian) duct develops into female internal structures— fallopian tubes, uterus, upper portion of vagina (lower portion from urogenital sinus). Male remnant is appendix testis.

Müllerian agenesis (Mayer-Rokitansky- Küster-Hauser syndrome)—may present as 1° amenorrhea (due to a lack of uterine development) in females with fully developed 2° sexual characteristics (functional ovaries).

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