To report and discuss a kindred with pathological hyperprolactinaemia.
Case 1 (Proband)
A 39-year old man presented in June 2003 with 3-years of erectile dysfunction (ED) and was found to have hyperprolactinaemic hypogonadotrophic hypogonadism: LH 1.0 & FSH 1.5 U/L, Testosterone 5.8 nmol/L, PRL 4154 mU/L. Pituitary function was otherwise normal. MRI demonstrated an intrasellar macroadenoma. Cabergoline therapy normalised PRL and testosterone levels, with resolution of ED and significant tumour shrinkage over a period of 4 months.
In October 2004, his 17-year-old son was referred with severe pubertal delay (G3, P23, A1; Testes 8 ml bilaterally), consistent with his biochemistry (LH 1.6 & FSH 3.1 U/L, testosterone 2.3 nmol/L). Although baseline PRL was elevated at 768, rising to 1009 mIU/L after several months of low-dose testosterone therapy, pituitary MRI was normal. He commenced cabergoline therapy, is currently progressing through puberty and repeat MRI is awaited.
In March 2005, his 22-year old niece was referred with secondary amenorrhoea and galactorrhoea and was found to have hyperprolactinaemic hypogonadotrophic hypogonadism: LH <1.0 & FSH 3.9 U/L, E2 <60 pmol/L, PRL 1606 mU/L. MRI revealed a pituitary microadenoma and she was commenced on cabergoline, following which PRL level normalised, galactorrhoea resolved and periods normalised. MRI scan 8 months later showed some tumour shrinkage.
Familial pituitary tumours are seen in MEN 1 (MEN1N screen negative in this kindred), Carney complex and McCune-Albright syndrome. More recently, a syndrome of familial isolated pituitary adenomas has been recognised. Though hyperprolactinaemia is a relatively common endocrine disease, published kindreds are surprisingly rare. All 3 members of this kindred remained in touch, lived in the same town, shared the same GP and were referred to the same Endocrinologist within a 20 month timeframe. With society and healthcare becoming increasingly fragmented, such familial associations can all too easily be missed.