Mar 19, 2008 - endocrine clinic at Johannesburg Hospital in February ... Multiple endocrine neoplasia type 2A (MEN-2A) is an autosomal dominant genetic ...
case report
April 2008, Vol. 13, No. 1
JEMDSA
Multiple endocrine neoplasia type 2A Department of Medicine, Division of Endocrinology and Metabolism, Johannesburg Hospital A M Klisiewicz, MB BCh, FCP (SA), MMed (Int Med) F J Raal, FRCPC, FCP (SA), MMed (Int Med), PhD Department of Chemical Pathology, Johannesburg Hospital J Paiker, MB BCh, FCPath, DipPEC Division of Anatomical Pathology, School of Pathology, University of the Witwatersrand and National Health Laboratory Service, Johannesburg S J Nayler, BSc, MB BCh, FCPath (SA), MMed (Anat Path)
18 Multiple endocrine neoplasia type 2A (MEN-2A) is an autosomal dominant genetic syndrome consisting of medullary thyroid carcinoma, phaeochromocytoma and hyperparathyroidism. A germline mutation in the RET proto-oncogene which codes for tyrosine kinase receptors expressed in neural-crest derived cells of the thyroid, the parathyroid, adrenal medulla and enteric autonomic plexus results in this syndrome. Genetic testing for mutations in the RET proto-oncogene should now be the standard of care for the diagnosis and screening of families with MEN-2A. This report describes a 34-year-old Congolese man with newly diagnosed MEN-2A.
Case report A 34-year-old Congolese man presented to the endocrine clinic at Johannesburg Hospital in February 2007 complaining of a 3-month history of headaches, nervousness and vomiting. He was admitted into a medical ward with a hypertensive crisis. The history and clinical symptoms were suggestive of the diagnosis of phaeochromocytoma. His past medical history included a recent diagnosis of sickle cell anaemia. He was unaware of other family members with this disorder. Examination revealed a healthy looking young man with no palpable thyromegaly or neurocutaneous manifestations. The only positive findings were a cataract in the right eye with band keratopathy and grade II hypertensive changes in the left fundus. He was admitted to an endocrine ward for investigation of phaeochromocytoma as a cause of his hypertension. He was commenced on an alpha-blocker followed by a beta-blocker and remained normotensive on treatment.
Investigations and results The following investigations were performed: 1. B lood biochemistry revealed normal serum electrolytes, urea, creatinine, and glucose. However, persistently elevated levels of the following serum
Pg 18-19.indd 18
analytes were found: corrected calcium (2.97 mmol l, reference range (RR) 2.05 - 2.56), parathyroid hormone (19.3 pmol/l, RR 1.2 - 8.4) and calcitonin (168 ng/l, RR
