Diabetes Mellitus USMLE Step 1 Practice Question
A 7-year-old girl presents with vaginal bleeding, café au lait macules with irregular borders, and polyostotic fibrous dysplasia on skeletal survey. Vital signs show BP 105/68, HR 88, RR 20, Temp 37.2°C, SpO2 98% on room air. She denies abdominal pain. Laboratory studies reveal elevated 17-hydroxyprogesterone level. She takes no chronic medications. Which of the following best explains her clinical presentation?
Answer choices
- AMutation causing androgen receptor insensitivity
- BTrinucleotide repeat expansion in the FMR1 gene
- CDeletion of the paternal chromosome 15q11 region
- DLoss of function mutation in the RET proto oncogene
- EActivating mutation of Gs alpha causing endocrine hyperfunctionCorrect answer
- FCongenital adrenal hyperplasia from 21-hydroxylase deficiency
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