Acromegaly and late-onset primary hyperparathyroidism in a female with a rare MEN1 gene variant of yet undetermined clinical significance (p.Val167Ala).

We report a case of a female, born in 1952, diagnosed with a rare Multiple Endocrine Neoplasia type 1 (MEN1) gene variant of uncertain clinical significance (p.Val167Ala) presenting with acromegaly, late-onset primary hyperparathyroidism (PHP) and bilateral adrenal tumors. The diagnosis of acromegaly due to pituitary macroadenoma was confirmed at the age of 45. After a non-radical transsphenoidal resection of the pituitary tumor, with histopathological confirmation of adenoma chromophobe, treatment with long-acting somatostatin analogue was introduced, resulting in successfully normalized both insulin-like growth factor and growth hormone values. Mild hypercalcemia was discovered for the first time during endocrinological follow-up at the age of 56, with elevated parathyroid hormone level and increased urine excretion of calcium. 99mTc-MIBI single-photon emission computed tomography/computed tomography showed no typical focal accumulation of the tracer, only an increased uptake in the topography of the upper right parathyroid. The radiological image of the hypothalamic-pituitary area remained stable since medical treatment implementation: pituitary magnetic resonance imaging showed the remnants of the pituitary gland, less than 1 mm in diameter, at the bottom of the sella turcica and two hypointense masses enhancing heterogeneously after contrast administration: 11x8x13 mm in the right lateral part of the turkish saddle and a similar 7x4x5 mm lesion on the left, in direct pro...
Source: Endokrynologia Polska - Category: Endocrinology Authors: Tags: Endokrynol Pol Source Type: research