Multiple Endocrine Neoplasia or Accidental Association?

Pheochromocytoma, papillary thyroid carcinoma and hyperparathyroidism have rarely been reported together. Whether this association is coincidental or results from an unknown genetic predisposition is difficult to ascertain.We present the case of a patient who was diagnosed with pheochromocytoma, bilateral papillary thyroid carcinoma and parathyroid hyperplasia with primary hyperparathyroidism. A genetic mutation was hypothesized as the connection between these lesions. Previously described mutations were explored

Congenital hyperinsulinism—A case of mild hypoglycemia in an adult, detected by family testing

Abstract Symptoms of mild hypoglycemia are easily overlooked especially when there are no complaints from the patients, but it could be a warning sign of an underlying genetic disease. Genetic testing for the entire family is a key step in neonatal hypoglycemia workup

Rare cause of a resistant hypertension in a middle‐aged man: A case report

Abstract Congenital adrenal hyperplasia associated to 11‐beta‐hydroxylase deficiency is a rare cause of secondary hypertension, usually discovered during childhood; however, a late diagnosis in adults has also been reported. Despite low cortisol levels, accumulated adrenal steroid precursors can activate the glucocorticoid receptor and thus protect the patient against adrenal crisis