A 17-year-old girl was referred to the transition clinic. She was taking hydrocortisone 10 mg twice daily and fludrocortisone 150 micrograms daily following a failed short tetracosactide (Synacthen®) test 5years previously. She had entered puberty at the age of 10 but had never achieved adult breast development or menarche.
Investigations:
haemoglobin95 g/L (115C165)
MCV124 fL (80C96)
white cell count8.4 ? 109/L (4.0C11.0)
platelet count334 ? 109/L (150C400)
serum sodium138 mmol/L (137C144)
serum potassium4.4 mmol/L (3.5C4.9)
serum urea3.5 mmol/L (2.5C7.0)
serum corrected calcium1.80 mmol/L (2.20C2.60)
serum follicle-stimulating hormone67.9 U/L (2.5C10.0)
serum luteinising hormone56.4 U/L (2.5C10.0)
What is the most likely diagnosis?
A . atypical congenital adrenal hyperplasia
B . autoimmune polyglandular syndrome type 1
C . hypothalamic germinoma
D . pituitary stalk interruption syndrome
E . Turner’s syndrome
Answer: B
Leave a Reply