ORCID

0009-0007-8248-3884 (Kamran), 0000-0002-4983-9339 (Okigbo)

Document Type

Article

Publication Date

2025

DOI

10.1155/crie/6399278

Publication Title

Case Reports in Endocrinology

Volume

2025

Pages

6399278 (1-3)

Abstract

We report a case of Klinefelter syndrome (KS) diagnosed in adulthood, emphasizing the impact of phenotypic variability and the declining reliance on physical examination in delayed recognition. A 27-year-old male with obesity, low libido, and biochemical and clinical primary hypogonadism was found to have 47, XXY karyotype, consistent with KS. His hypogonadism was initially attributed to obesity and overlooked, despite classic signs of a micropenis and small testes. The case highlights the importance of physical examination, comprehensive history, and clinician awareness in diagnosing KS, particularly in atypical presentations. KS is associated with increased risks of osteoporosis, cardiovascular disease, and psychosocial challenges. Raising awareness and focusing on physical examinations can improve diagnostic timing and reduce complications.

Rights

© 2025 Amna Kamran and Chinelo Okigbo.

This is an open access article under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Data Availability

Article states: "Data supporting the findings of this study are available within the article. Further details are available from the corresponding author upon reasonable request."

Original Publication Citation

Kamran, A., & Okigbo, C. (2025). Late diagnosis of Klinefelter syndrome: Overcoming phenotypic variability and diagnostic oversights. Case Reports in Endocrinology, 2025, 1-3, Article 6399278. https://doi.org/10.1155/crie/6399278

Download

Share

COinS