A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age
Received 8 June 2008; received in revised form 4 July 2008; accepted 9 July 2008. published online 09 September 2008.
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.
aChair of Endocrinology, Catholic University of the Sacred Heart, Rome, Italy
bInstitute of Human Genetics, “A. Gemelli” University Hospital, Catholic University of the Sacred Heart, Rome, Italy
Reprint requests: Antonio Mancini, M.D., Chair of Endocrinology, Catholic University of the Sacred Heart, Largo A. Gemelli 8, 00168, Rome, Italy (FAX: 39-06-35500486).
A.M. has nothing to disclose. M.Z. has nothing to disclose. E.L. has nothing to disclose. G.G. has nothing to disclose. R.F. has nothing to disclose. R.L. has nothing to disclose. A.P. has nothing to disclose. G.N. has nothing to disclose.
ABSTRACT