Double mutation for multiple endocrine neoplasia associated with congenital adrenal hyperplasia

A 39 year old female with signs of hyperandrogenism, was diagnosed with congenital adrenal hyperplasia after a cortrosyn test. Abdominal tomography showed a nodular image in the right adrenal gland, measuring 1.9 × 3.1 cm, 26 UH. Screening for Cushing's syndrome and pheochromocytoma was negative. Due to the maternal family history of MEN2A, RET gene testing was performed (positive), and screening for medullary thyroid carcinoma (MTC) with calcitonin was <2 pg/mL. As the patient's father passed away due to complications of peptic ulcers and hailed from a region with high rates of MEN1, PTH and calcium levels were checked, confirming the diagnosis of primary hyperparathyroidism (pHPT). Genetic investigation for MEN1 was positive, and an MRI of the pituitary gland revealed a non-producing macroadenoma. Management of pHPT and total prophylactic thyroidectomy were recommended, with an expectant approach regarding the adrenal lesion. Histopathological examination of the thyroid revealed papillary microcarcinoma in the right lobe and parafollicular cell hyperplasia in two foci, with immunohistochemistry consistent with MTC.

There may be the coexistence of three rare and complex genetic syndromes in a single patient. Multiple endocrine neoplasia syndromes describe a group of heterogeneous diseases. Hyperparathyroidism is common among multiple endocrine neoplasia syndromes.