title: A case of 45,X male: genetic reevaluation and hormonal and metabolic follow-up in adult age.
abstract: 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.
authors.affiliation: Catholic University of the Sacred Heart, Rome, Italy. mancini.giac@mclink.it
authors.forename: Antonio
authors.initials: A
authors.lastname: Mancini
authors.forename: Marcella
authors.initials: M
authors.lastname: Zollino
authors.forename: Erika
authors.initials: E
authors.lastname: Leone
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Grande
authors.forename: Roberto
authors.initials: R
authors.lastname: Festa
authors.forename: Rosetta
authors.initials: R
authors.lastname: Lecce
authors.forename: Alfredo
authors.initials: A
authors.lastname: Pontecorvi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Neri
mesh_terms: 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
chemical_list: D001786:Blood Glucose; D006728:Hormones