The Frequency and Types of Chromosomal Aberrations in the Patients with Hypogonadism

Abstract

Objectives: Hypogonadism is the clinical manifestation of the impaired function of the testes and the ovaries, and is either due to endocrinological problems or chromosomal abnornlalities (CA). Chromosomal analysis is one important piece in the hypogonadism individuals, and becomes essential from the clinical point of view. Design:To determine the frequency, types of CAs in a hypogonadism population. Materials and method:The current study was a retrospective analysis to examine the CAs and prevalence in 64 cases with unexplained hypogonadism problem. The samples were cultured routinely for the karyotype analysis using G banding. Results:A total of 64 individuals with infertility was analysed. The karyotype results were normal in 52 (81.2%) of 64 individuals. However, CAs were detected in 12 (18.8%) of all individuals. The 15.6% of these CAs was numerical aberrations, and also structural CA was 3.1%. Specifically, Klinefelter syndrome (KS) was the most common karyotype (14.1%,9 cases) among the all cases, followed by 46,XX,anoploidy; 46,Xi(Xq) and 46,XY,robt(14;15). Conclusion:We found a high rate CAs (18.8%) in patients with hypogonadism. Therefore, cytogenetic analysis can be strongly recommended in hypogonadism individuals, and should be performed routinely in both the male and female with hypogonadism.

Translating genomics to the clinical diagnosis of disorders/differences of sex development

“…45,X/46,XY), 47,XXY (Klinefelter syndrome), or 46,XX/46,XY chimerism. These conditions account for about 15% of DSDs (Cox et al, 2014;De Paula et al, 2016;Délot et al, 2017;Demirhan et al, 2015;Heeley et al, 2018). Many of the early identifications of individual DSD genes were achieved by positional cloning and linkage analysis and identifying microscopically discernable structural changes in the karyotype using cytogenetic techniques.…”