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.


METHODS
Case report.


METHODS
University Genetic Center and Endocrine Clinic.


METHODS
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.


METHODS
Fluorescence in situ hybridization analyses on metaphase chromosomes, standard oral glucose tolerance test, dynamic hormone assays, semen analysis, and dual-energy x-ray absorptiometry.


METHODS
Reexamination at clinical, genetic, hormonal, and metabolic level.


RESULTS
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.


CONCLUSIONS
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.
Mancini
Antonio
A
Catholic University of the Sacred Heart, Rome, Italy. mancini.giac@mclink.it
Zollino
Marcella
M
Leone
Erika
E
Grande
Giuseppe
G
Festa
Roberto
R
Lecce
Rosetta
R
Pontecorvi
Alfredo
A
Neri
Giovanni
G
D015502:Absorptiometry, Photon; D000328:Adult; D001786:Blood Glucose / Q000378:metabolism; D015519:Bone Density / Q000235:genetics; D002884:Chromosomes, Human, Pair 15; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005298:Fertility / Q000235:genetics*; D005951:Glucose Tolerance Test; D006728:Hormones / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D024821:Metabolic Syndrome / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D055101:Semen Analysis; D013737:Testis / Q000473:pathology; D014178:Translocation, Genetic
D001786:Blood Glucose; D006728:Hormones