Endocrine Abstracts

A 56-year-old gentleman diagnosed with galactosemia by open liver biopsy at the age of one was referred by GP with longstanding complaints of increasing lethargy, low mood and chronic anaemia. Initial investigations revealed normocytic anemia with a normal renal function, ESR, haematinics, calcium and myeloma screen. Endocrine tests revealed anterior hypopituitarism (TSH: 4.4, FreeT4: 4.5, LH: 0.5, FSH: 2, testosterone: <0.1, prolactin: 27, IgF-1: <3.3, random cortisol: <50, short synacthen test: 0 min: 54, 30 min:105) with preserved posterior pituitary function (normal water deprivation test) MRI of the pituitary showed a pituitary gland which looked unusual with no central enhancement post gadolinium. He improved dramatically with hydrocortisone and thyroxine replacement. Haematological profile normalised. Our literature search has not revealed any cases of hypopituitarism attributable to galactosemia. Endocrine abnormalities described in this condition are premature ovarian failure and secondary osteoporosis due to dietary restriction.

There is a chasm in the medical literature relating to galactosemia in older age. To our knowledge this is the oldest living gentleman with galactosemia and the first to develop anterior hypopituitarism as a potential long-term complication. As always a high index of suspicion is needed in the diagnosis of hypopituitarism. There is a need for further research into the long term complications of galactosemia.