Endocrine Abstracts

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.