A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age.

Objective: To report a case of a 45,X man, a rare condition with a clinical course that has not been dealt with by any previous article in the literature.
Design: Case report.
Setting: University Genetic Center and Endocrine Clinic.
Patient(s): A 41-year-old man, already known by our genetics center for a 45,X chromosome constitution and a normal male differentiation, came back with requests on his sexual and fertility potential. Twenty-one years ago, high-resolution analysis of prometaphase chromosomes revealed additional euchromatic material on a 15-p chromosome, and in situ hybridization with Y-specific probe pDP105 gave positive signal on 15p11.2, suggesting a t(Yp;15p) translocation.
Intervention(s): Fluorescence in situ hybridization analyses on metaphase chromosomes, standard oral glucose tolerance test, dynamic hormone assays, semen analysis, and dual-energy x-ray absorptiometry.
Main Outcome Measure(s): Reexamination at clinical, genetic, hormonal, and metabolic level.
Result(s): The derivative chromosome 15 was characterized as der(15)(Ypter-->q11.21::15p11.2-->qter). The patient's findings satisfied the criteria of the metabolic syndrome. Hypergonadotropinemic hypotestosteronemia was diagnosed.
Conclusion(s): Our study offers new insights into the natural history of this condition and suggests that hypogonadism could play a role in the development of metabolic syndrome.