Acromegaly is usually regarded as a disease which occurs sporadically. Familial occurence of acromegaly due to pituitary adenoma without any other endocrinopathy in a family is extremely rare. These patients should be evaluated for multiple endocrine neoplasia type 1 (MEN 1) and Carney complex. We report here two cases of acromegaly due to pituitary macroadenomas. Subject 1 is a 50-year-old woman and subject 2 is her 23-year-old son with elevated growth hormone (GH) levels during the oral glucose tolerance test (OGTT) and pituitary macroadenomas in Magnetic Resonance Imaging (MRI). Subject 1 was diagnosed nine years ago and had underwent transsphenoidal extirpation. But she was lost to follow up after the operation and she had not received any medical treatment. During her evaluation at the surgery unit for toxic multinodular goitre it was noticed that her acromegaly symptoms were persisting, and she had recurrent pituitary macroadenoma in MRI. Transsphenoidal reoperation was not successful and medical treatment was applied. She also underwent for thyroid operation after euthyroidism was achieved and pathological examination was compatible with papillary carcinoma of follicular variant. Subject 2 was diagnosed as acromegaly coincidentally when he was visiting his mother. He had high GH levels during OGTT and MRI revealed a macroadenoma of 10×15 mm. He was also treated with transsphenoidal surgery. Both of the patients and the unaffected siblings underwent extensive investigation and no features of MEN 1 or Carney complex were found. There was no history of consanguinity. We conclude that isolated familial acromegaly is an exceptional clinical entity, it may be more common than it has been realised. Genetic studies are needed to identify the responsible genes for this distinct syndrome.
01 - 05 Apr 2006
European Society of Endocrinology