title: Further evidence of the clinical, hormonal, and genetic heterogeneity of Klinefelter syndrome: a study of 216 infertile Egyptian patients.
abstract: This study aims to provide further insight into the phenotypic  heterogeneity of Klinefelter syndrome (KS) by presenting clinical, hormonal,  and genetic data from a large series of Egyptian infertile patients with KS. A  retrospective case series of KS patients was studied over a period from  January 2003 to April 2010. All patients underwent a complete history and  physical examination; color duplex examination; semen analysis; measurement of  total testosterone (T), follicle-stimulating hormone (FSH), luteinizing  hormone (LH), estradiol (E2), and prolactin (PRL); and chromosomal typing.  Mosaic KS diagnosis was confirmed by fluorescence in situ hybridization. The  series included 216 KS patients (198 nonmosaic, 16 mosaic, and 2 KS variants).  Typical clinical signs of hypoandrogenism were observed in 86% of patients.  Gynecomastia affected 20.8% of the patients. Eunuchoidal body proportions,  with arm span exceeding height and lower segment length exceeding upper  segment length, were detected in 43.9% and 64.4% of the patients,  respectively. In all patients, a reduction in testicular size and azoospermia  were detected. Normal levels of T, FSH, LH, E2, and PRL were detected in  44.5%, 3.7%, 3.3%, 93.5%, and 91.2% of patients, respectively. Differences  were not significant between patients with classic KS and those with mosaic KS  in terms of the frequency of clinical signs of hypoandrogenism, gynecomastia,  low T concentrations, or high concentrations of FSH, LH, E2, and PRL (all  P > .05). The results of the current study emphasize the  heterogeneous clinical, hormonal, and genetic phenotype of infertile KS  patients. Our findings support the usefulness of cytogenetic studies in  infertile patients showing small testicular size and azoospermia, regardless  of the presence of other clinical or endocrine findings.
authors.affiliation: Division of Andrology, Mansoura Faculty of Medicine, PO Box 35516, Mansoura, Egypt.
authors.forename: Moheb M
authors.initials: MM
authors.lastname: Abdel-Razic
authors.forename: Ibrahim A
authors.initials: IA
authors.lastname: Abdel-Hamid
authors.forename: Ezzat
authors.initials: E
authors.lastname: Elsobky
authors.forename: Faeza
authors.initials: F
authors.lastname: El-Dahtory
mesh_terms: D000293:Adolescent; D000328:Adult; D004958:Estradiol / Q000097:blood; D005640:Follicle Stimulating Hormone / Q000097:blood; D018740:Genetic Heterogeneity; D006177:Gynecomastia / Q000235:genetics; D006801:Humans; D007248:Infertility, Male / Q000097:blood / Q000235:genetics; D007713:Klinefelter Syndrome / Q000097:blood / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D008875:Middle Aged; D011388:Prolactin / Q000097:blood; D012189:Retrospective Studies; D055101:Semen Analysis; D013739:Testosterone / Q000097:blood; D055815:Young Adult
chemical_list: D013739:Testosterone; D004958:Estradiol; D011388:Prolactin; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone