Klinefelter syndrome with diabetes ketoacidosis as the first manifestation: a case report and literature analysis

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Author: LIU Xiaoyu ¹ YANG Fan ² WU Jing ³  YIN Wanling ³

Affiliation: 1. School of Medicine, Jianghan University, Wuhan 430056, China 2. Department of Endocrinology, Wuhan Central Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430014, China 3. Department of General Medicine III, Wuhan Central Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430014, China

Keywords: Klinefelter syndrome Hypogonadism Gynecomastia Diabetic ketoacidosis Osteoporosis

DOI: 10.12173/j.issn.1004-4337.202601031

Reference: Liu XY, Yang F, Wu J, Yin WL. Klinefelter syndrome with diabetes ketoacidosis as the first manifestation: a case report and literature analysis[J]. Journal of Mathematical Medicine, 2026, 39(4): 314-318. DOI: 10.12173/j.issn.1004-4337.202601031[Article in Chinese]  Copied

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Abstract

Klinefelter syndrome (KS) is a common sex chromosome disorder characterised by sex chromosome aneuploidy (typically a 47,XXY karyotype) and is the leading cause of primary hypogonadism in males. This paper reports a case of a 20-year-old male with Klinefelter syndrome complicated by diabetic ketoacidosis and osteoporosis. The patient presented with diabetic ketoacidosis, mild gynecomastia, sparse pubic hair and a micropenis. Laboratory tests revealed reduced serum testosterone levels and significantly elevated folli-cle-stimulating hormone (FSH) and pituitary prolactin levels; karyotype analysis confirmed a 47,XXY karyotype. By reviewing the diagnostic and therapeutic course of this patient, this paper focuses on analysing the association between Klinefelter syndrome and the risk of diabetic ketoacidosis. The aim is to alert clinicians that, when encountering young male patients presenting primarily with diabetic ketoacidosis and osteoporosis, they should be highly vigilant regarding the possibility of coexisting Klinefelter syndrome.

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References

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