Introduction: The presentation of a patient with Gigantism, gynaecomastia and increasing height suggests underlying Hypogonadotrophic Hypogonadism. Aetiologies such as a pituitary hamartoma is unlikely.
Case study: A 39 year old male presents with a 20 year history of increasing height, shoe size, headaches, sweatiness and gynaecomastia for the past 10 years. He was 2.08 m tall with features in keeping with Acromegaly. He had normal secondary sexual characteristics and Tanner stage 3 gynaecomastia. Acromegaly was confirmed. His bone age was 17 years. He had hypogonadotrophic hypogonadism. Pituitary MRI showed an enlarged, partially empty sella turcica and a hypothalamic hamartoma. He received testosterone cypionate, oestrafem and a somatostatin analogue. He improved clinically but his gynaecomastia had worsened. He was referred for a mastectomy.
Discussion: Acromegaly/Gigantism are uncommon disorders. tumors ususally arise de-novo and secrete GH. Occasionally, there is a family history and an Aryl hydrocarbon mutation (FIPA) or Multiple Endocrine Neoplasia should be considered. Hypothalamic Hamartomas are rare causes of GNRH secretion, but usually present in childhood. This patients presentation suggests that the onset of Acromegaly was in late teenage years, and therefore unlikely to be due to the Hypothalamic Hamartoma. The enlarged, partially empty sella turcica, suggests possible auto-infarction of a prior macroadenoma.
20 - 23 May 2017
European Society of Endocrinology