Hypogonadotrophic hypogonadism in the setting of secondary haemochromatosis.

R W Carroll, B Jones, S R Mehta, K C R Baynes

Ealing Hospital NHS Trust.


A 24 year old male was referred to the endocrinology clinic due to clinical hypogonadism. His symptoms included a two year history of erectile dysfunction, reduction in shaving frequency, and reduction in libido. Significantly, he was diagnosed with Beta thalassaemia major at 2 years of age and had required regular blood transfusions throughout his life. To limit secondary haemochromatosis, desferrioxamine had been administered 3 times per week. Puberty was complicated by hypochondroplasia necessitating the use of growth hormone preparations from the age of 13 to 16.  Full predicted adult height was not obtained, but pubertal anatomical and psychological progression was normal. He had developed cardiac failure within the previous 2 years. Cardiac MRI had confirmed a diagnosis of cardiomyopathy secondary to iron overload.


Examination revealed a height of 160 cm; a mild eunuchal habitus, with increased arm span, was noted, but considered secondary to hypochrondoplasia. The skin was noted to be bronzed. Visual fields were normal to confrontation. There were no clinical features of Cushing’s syndrome or acromegaly. Sense of smell was intact and there was no gynaecomastia.  Genital examination revealed normal but sparse pubic hair distribution and a normal sized phallus. Testicular volume was reduced bilaterally. Initial biochemical investigation was consistent with hypogonadotrophic hypogonadism; LH = 2.0 IU/L, FSH =1.2 IU/L, Testosterone = 1.0 nmol/L, Prolactin = 114 mIU/L, TSH = 0.98 mU/L, Free T4 14.8 pmol/L, ACTH =8.4 ng/L, 09:00 cortisol was normal (392 nmol/L) and he had a normal response in a short Synacthen test (t=30 cortisol=951nmol/L). Despite his prior treatment with growth hormone his IGF-1 was in the reference age = 17.9 nmol/L (range 13-50). Pituitary MRI scan showed no mass lesion within the pituitary gland.  Marked iron overload was confirmed with Ferritin = 1225ng/ml (NR 30-400) (6317 ng/ml 3 years previously)


He was commenced on Andropatch, but was switched to Nebido injections due to topical irritation. At follow up he reported improvement in erectile function and libido. Consequently, hyperglycaemia was documented and a formal diagnosis of diabetes mellitus was made (HbA1c=7.8%). This case illustrates the multi-organ involvement of secondary haemochromatosis with objective evidence of pituitary, cardiac, and possible pancreatic involvement. The patient continues to see the endocrinology, haematology, and cardiology teams regularly. Fertility will be addressed during future encounters.