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

BACKGROUND: Maleness associated with 45,X karyotype is a very rare condition: Male differentiation implicates translocation of Y material on different autosomes (11,15,14,18 are described in literature). Previously, in our Institute of Genetics, a 25-year-old male with 45,X karyotype, was examined: testes and normal external genitalia were present. High resolution analysis of prometaphase chromosomes revealed additional euchromatic matherial on the short arm of one 15 chromosome; after in situ hybridisation with Y-specific probe pDP105, a significant grain accumulation was observed distal to 15p11.2, suggesting a Y/15 translocation. After 20 years, the patient again returned to our center with requests on sexual and fertility potential; he was re-examined, at clinical, genetical, hormonal metabolic level. METHODS: FISH analyses were performed on metaphase chromosomes. We also performed: standard oral glucose tolerance test (OGTT); basal and dynamic hormones assays; standard semen analysis according to WHO criteria; DEXA. RESULTS: FISH studies with LSI SRY (Vysis) probe showed positive signal on terminal p arm of chromosome 15; CEP Y (Vysis), and acro p-arm probe (Vysis) signals were both present on the derivative chromosome 15; RP11-75F5 BAC probe (Yq11.21) signal was present between the Y-specific and 15-specific centromeres. The patient had clinical criteria for metabolic syndrome; hypergonadotropinemic hypotestosteronemia was discovered. DISCUSSION: The interest of this case, other than natural history of such a rare condition, strongly reinforces metabolic role of testosterone and suggest that hypogonadism could play a role in the development of metabolic syndrome in our patient.