A 17-year-old girl was referred to the outpatient clinic with irritability, weight loss and
difficulty sleeping. At the age of 4, she had presented with rapid growth, breast development and vaginal bleeding. The results of a gonadotropin-releasing hormone (GnRH) stimulation test performed at that time are given below.
serum oestradiolplasma FSHplasma LH
(200C400 pmol/L)(2.5C10.0 U/L)(2.5C10.0 U/L)
0 min365<0.7<0.5
30 minC<0.7<0.5
60 minC<0.7<0.5
She had been treated with GnRH analogue until the age of 11 and puberty had then progressed normally.
On examination, she was found to be tremulous, tachycardic and hyper-reflexic. Several large, irregular café-au-lait spots were found.
Investigations:
serum thyroid-stimulating hormone<0.05 mU/L (0.4C5.0)
serum free T436.0 pmol/L (10.0C22.0)
What is the most likely diagnosis?
A . Carney’s complex
B . Cowden’s syndrome
C . McCuneCAlbright syndrome
D . multiple endocrine neoplasia type 2
E . neurofibromatosis type 1
Answer: C