THE USMLE TIMES - #91
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Welcome to issue #91 of The USMLE Times… We’re in the home stretch to our 100th issue of the Newsletter and we’ve got something special cooking for #100! Thank you to all of our supporters—new and old!
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Here’s what’s on tap for issue #91 of the USMLE Times:
Question of the Week (Female Reproductive Pathology)
This week’s video training (Building Step 1 Momentum)
Links to this recent tips, tricks, & questions
Question deep-dive & breakdown
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Let’s dive in!
A 14-year-old female was brought to her primary care physician due to her mother's concern over her delayed onset of menarche. Her past medical history is significant for ambiguous external genitalia with normal internal female genital organs at birth. Her family history is positive for virilization in her mother during pregnancy. She has no siblings. The patient has normal intellectual function and a height of 5 ft 11 in, with a BMI of 24 kg/m2. Physical examination reveals Tanner stage 1 development. All vital signs are within normal limits. Based on this information, which of the following is the most likely diagnosis?
A. Androgen insensitivity syndrome
B. Aromatase deficiency
C. 5-alpha reductase deficiency
D. Klinefelter syndrome
E. Double Y syndrome
F. 46, XX gonadal dysgenesis
G. Kallmann syndrome
The answer & question breakdown is at the bottom of the post.
🔗 LINKS TO RECENT POSTS
USMLE TIMES ISSUE #90 - READ IT HERE
Q&A Tuesday (Question Time-Savers) - READ HERE
USMLE Practice Question #50 - TRY IT HERE
USMLE Practice Question #49 - TRY IT HERE
USMLE Practice Question #48 - TRY IT HERE
ANSWER + QUESTION BREAKDOWN
The Mental Model for this week’s question:
Step 1. Make a diagnosis.
Step 2. Read the vignette and find the information necessary to make a diagnosis.
Step 3. Ask yourself what you believe the diagnosis to be.
Step 4. Look for the answer choice that accurately reflects your answer.
GENERAL ANALYSIS
This question involves a 14-year-old female with delayed menarche and ambiguous genitalia at birth but with normal internal female genital organs. The family history is notable for virilization in the mother during pregnancy. The patient has normal intellectual function, is tall for her age, and exhibits Tanner stage 1 development. The task is to identify the most likely diagnosis based on these clinical features.
ANSWER CHOICES:
ANSWER CHOICE A: Androgen insensitivity syndrome
This condition involves a genetic male (46, XY) who is resistant to androgens, leading to female external genitalia and often normal breast development but no menstruation due to the absence of a uterus.
ANSWER CHOICE B: Aromatase deficiency
Aromatase deficiency leads to impaired conversion of androgens to estrogens, causing virilization in females and ambiguous genitalia at birth. It can also cause maternal virilization during pregnancy.
ANSWER CHOICE C: 5-alpha reductase deficiency
This condition affects genetic males (46, XY) and results in undervirilized male genitalia at birth, with virilization at puberty.
ANSWER CHOICE D: Klinefelter syndrome
This condition affects males (47, XXY) and is characterized by hypogonadism and often tall stature.
ANSWER CHOICE E: Double Y syndrome
This condition involves an extra Y chromosome (47, XYY) in males, often leading to tall stature and learning difficulties.
ANSWER CHOICE F: 46, XX gonadal dysgenesis
This condition involves underdeveloped gonads in genetic females, leading to delayed puberty and primary amenorrhea.
ANSWER CHOICE G: Kallmann syndrome
This condition involves hypogonadotropic hypogonadism with anosmia, leading to delayed puberty.
THE VERDICT…
Aromatase deficiency is a condition in which there is a lack of the enzyme responsible for converting androgens to estrogens. This results in elevated androgen levels, leading to ambiguous genitalia in genetic females (46, XX) and maternal virilization during pregnancy due to excess androgens crossing the placenta.
The patient’s tall stature and delayed puberty are due to low estrogen levels, which are necessary for the closure of growth plates and the onset of secondary sexual characteristics.
The presence of normal internal female genital organs and the history of maternal virilization strongly support the diagnosis of aromatase deficiency.
FINAL ANSWER: B. Aromatase deficiency
That’s it for issue #91 of The USMLE Times!
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See you next time 👋