Primary Adrenal Insufficiency in a Patient with Mosaic Klinefelter Syndrome

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.

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BibTeX RIS

BibTeX

@article{sato2026primary,
  title = {{Primary Adrenal Insufficiency in a Patient with Mosaic Klinefelter Syndrome}},
  author = {Keisuke Sato and Satoshi Yamagata and Mizuki Tasso and Yuki Nakada and Yuichiro Munakata and Shojiro Sawada and Kazunori Kageyama},
  journal = {Internal Medicine},
  year = {2026},
  month = oct,
  doi = {10.2169/internalmedicine.7436-26},
  url = {https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7436-26/_article},
  note = {CC BY-NC-ND},
}

RIS

TY  - JOUR
TI  - Primary Adrenal Insufficiency in a Patient with Mosaic Klinefelter Syndrome
AU  - Keisuke Sato
AU  - Satoshi Yamagata
AU  - Mizuki Tasso
AU  - Yuki Nakada
AU  - Yuichiro Munakata
AU  - Shojiro Sawada
AU  - Kazunori Kageyama
PY  - 2026
DA  - 2026/10/22
JO  - Internal Medicine
DO  - 10.2169/internalmedicine.7436-26
UR  - https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_7436-26/_article
AB  - 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.
SN  - 1349-7235
SN  - 0918-2918
ER  -

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