Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2023) 90 EP948 | DOI: 10.1530/endoabs.90.EP948

ECE2023 Eposter Presentations Reproductive and Developmental Endocrinology (48 abstracts)

Klinefelter syndrome diagnosed late in a person with motor and cerebral infirmity

Nour El Houda Bedrane & Khiter Chafika


Hôpital de Lucie & Raymond Aubrac, Crosne, France


Introduction: Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a genetic condition affecting males, and it often isn’t diagnosed until adulthood. It is manifested by gynecomastia, small testicles, erectile dysfunction, infirtility …

Observation: 70-year-old male patient with motor and cerebral infirmity, several fractures following minimal trauma. Hospitalized for imbalance of type 1 diabetes and the clinical examination found bilateral gynecomastia, microtesticles and the patient was beardless. Bone densitometry shows severe osteoporosis. Testosterone was low at 1.1 nmol/l, FSH high at 28.3 IU/l, LH also high at 11.1 IU/l. Karyotype analysis revealed a 47 XXY chromosome formula.

Conclusion: Klinfelter syndrome diagnosed late, masked by mental retardation, Consider examining patients and requesting a hormonal assessment in the presence of trabecular osteoporosis.

Volume 90

25th European Congress of Endocrinology

Istanbul, Turkey
13 May 2023 - 16 May 2023

European Society of Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.