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Primary Adrenal Insufficiency in a Patient with Mosaic Klinefelter Syndrome

Year: 2026

Type: article

Abstract: Klinefelter syndrome (KS) is a common sex chromosome disorder characterized by hypergonadotropic hypogonadism. Primary adrenal insufficiency (PAI) has rarely been reported in association with KS, particularly in mosaic cases. We report a case involving a 39-year-old man with mosaic KS (47,XXY/46,XY) and PAI. He presented with hyperkalemia and subtle clinical features without hypotension. Endocrinological evaluation confirmed PAI, and elevated gonadotropin levels with low testosterone levels indicated primary hypogonadism. Steroid profiling using liquid chromatography-tandem mass spectrometry showed reduced testosterone and dihydrotestosterone levels with preserved androgen precursors. This case illustrates the rare coexistence of PAI and mosaic KS.

Source: Internal Medicine

DOI: 10.2169/internalmedicine.7436-26

Authors: Keisuke Sato, Satoshi Yamagata, Mizuki Tasso, Yuki Nakada, Yuichiro Munakata, Shojiro Sawada, Kazunori Kageyama

Institution: Tohoku Medical and Pharmaceutical University

Language: English

Topic: Adrenal Hormones and Disorders

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W7223125651

FWCI:

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