Which is the most likely diagnosis in the following cases:
A. Craniopharyngioma
B. Exaggerated adrenarche
C. McCune Albright syndrome
D. Hypothalamic hamartoma
E. Thelarche variant
F. Neurofibromatosis type 1
G. Granulosa-theca cell tumour
H. Hypothyroidism
I. Premature thelarche
J. Congenital adrenal hyperplasia
1) A 5-year-old girl presents with rapid breast development, breast stage 4, over a few months and an abdominal mass. There was no pubic hair or cliteromegaly.
2) An 8 year old boy presents with testicular volumes of 8 mls bilaterally, pubic hair stage 3 and genital stage 3. He has long-standing constipation, deteriorating school performance and increased weight.
3) A 2year old girl presents with isolated bilateral breast development. Examination is otherwise normal as is her height velocity. Subsequent investigation demonstrates undetectable oestradiol levels and a prepubertal response to an LHRH test.
Don’t look at the answer before answering
1) G. Granulosa-theca cell tumour
The rapid onset of puberty is indicative of a tumour. In this case the alpha-fetoprotein tumour marker will be raised. Symptoms result from the very high oestradiol levels.
2) H. Hypothyroidism
Long standing hypothyroidism can cause precocious puberty through high levels of TRH driving gonadotrophin secretion and cross reactivity of the FSH receptor with TRH.
3) Premature thelarche
There may be a slight FSH predominance on the basal gonadotrophin levels. Premature thelarche is self-limiting and thought to be the result of the body being exquisitely sensitive to low levels of oestradiol.