A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia
https://doi.org/10.14341/omet13015
Abstract
Multiple endocrine neoplasia type 1 (MEN1) and congenital adrenal hyperplasia (CAH) are rare monogenic hereditary endocrinopathies with a prevalence of 1–9 cases per 100,000 and 9–15 cases per 100,000, respectively. MEN1 is characterized by the development of multiple endocrine and nonendocrine organ tumors, including parathyroid, pituitary, and duodenopancreatic neuroendocrine tumors (NETs), which constitute the classical triad of the disease. CAH is associated with genetic defects in enzymes and transport proteins involved in the synthesis of adrenal cortical steroid hormones. Overall, cases of the combination of two hereditary diseases in one patient are extremely rare. In this article, we describe a clinical case of the combination of MEN-1 with all three classical components and CAH, which, taking into account the low prevalence of both diseases, represents scientific interest. To date, only one similar case has been described in the literature. In addition, the paper discusses the pathogenetically determined combination of CAH and Ehlers-Danlos syndrome, known as the CAH-X syndrome.
About the Authors
A. S. Bondarenko
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Axenia S. Bondarenko - MD.
11 Dm. Ulyanova street, 117036 Moscow
Competing Interests:
None
E. O. Mamedova
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Elizaveta O. Mamedova - MD, PhD.
Moscow
Competing Interests:
None
Zh. E. Belaya
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Zhanna E. Belaya - MD, PhD.
Moscow
Competing Interests:
None
G. A. Melnichenko
Endocrinology Research Centre
Russian Federation
Competing Interests:
Russian Federation
Galina A. Melnichenko - MD, PhD, Professor.
Moscow
Competing Interests:
Мельниченко Г.А. — заместитель главного редактора журнала «Ожирение и метаболизм».
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Bondarenko A.S., Mamedova E.O., Belaya Zh.E., Melnichenko G.A. A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia. Obesity and metabolism. 2024;21(1):79-84. (In Russ.) https://doi.org/10.14341/omet13015
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