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

• Published in: Fertility and sterility Vol. 90; no. 5; pp. 2011.e17 - 2011.e21
• Main Authors: Mancini, Antonio, M.D, Zollino, Marcella, M.D, Leone, Erika, M.D, Grande, Giuseppe, M.D, Festa, Roberto, M.D, Lecce, Rosetta, B.D, Pontecorvi, Alfredo, M.D, Neri, Giovanni, M.D
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-11-2008
• Subjects: 45,X male; Absorptiometry, Photon; Adult; Blood Glucose - metabolism; Bone Density - genetics; Chromosomes, Human, Pair 15; Chromosomes, Human, X; Chromosomes, Human, Y; Fertility - genetics; FISH; Glucose Tolerance Test; Hormones - blood; Humans; hypogonadism; Hypogonadism - complications; Hypogonadism - genetics; Hypogonadism - metabolism; Hypogonadism - pathology; In Situ Hybridization, Fluorescence; Internal Medicine; Male; metabolic syndrome; Metabolic Syndrome - genetics; Metabolic Syndrome - metabolism; Metabolic Syndrome - pathology; Obstetrics and Gynecology; Semen Analysis; Testis - pathology; translocation; Translocation, Genetic; metabolic syndrome; FISH; hypogonadism; translocation; 45,X male
• ISSN: 0015-0282; 1556-5653
• DOI: 10.1016/j.fertnstert.2008.07.1723

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.