Chromosomal aberrations associated with reproductive disorders and growth/developmental abnormalities: A single-center retrospective study from Wuzhou, Guangxi Zhuang Autonomous Region, China.

ObjectiveTo characterize the spectrum, frequency, and age-related distribution of chromosomal aberrations in patients with reproductive disorders and growth/developmental abnormalities in the Wuzhou area of Guangxi, China, and to explore the association of these aberrations with sex hormone profiles.MethodsWe retrospectively performed peripheral blood G-banding karyotype analyses for 4377 patients referred to Wuzhou Gongren Hospital between January 2014 and December 2025. The patients were stratified into four indication groups: (a) adverse obstetric history (n = 1813); (b) male primary infertility (n = 1330); (c) female primary infertility (n = 853); and (d) growth/developmental abnormalities (n = 381). Sex hormone levels were compared between balanced structural rearrangement carriers, patients with sex chromosome aberrations, and age-matched normal karyotype controls.ResultsDetection rates differed markedly across indications. The rate was 24.7% (95% confidence interval: 20.6%-29.2%) for growth/developmental abnormalities, 3.8% (2.9%-4.9%) for male primary infertility, 2.2% (1.6%-3.0%) for adverse obstetric history, and 0.9% (0.5%-1.8%) for female primary infertility (overall: 4.4%, 192/4377). All aberrations in the adverse obstetric history group were balanced structural rearrangements (reciprocal translocations, 60.0%; Robertsonian translocations, 27.5%; and inversions, 12.5%). 47,XXY predominated in male infertility (60.0%) and 45,X in female infertility (50.0%), whereas trisomy 21 accounted for 72.3% of the aberrations in the growth/developmental group. Autosomal aneuploidies and partial deletions/duplications were mostly diagnosed in infancy and were associated with severe phenotypes, whereas sex chromosome aberrations were detected across all ages and exhibited milder phenotypes. Balanced structural rearrangement carriers had hormone profiles comparable with those of normal karyotype controls, whereas patients with sex chromosome aberrations had elevated follicle-stimulating hormone and luteinizing hormone levels and decreased estradiol levels, with additionally reduced testosterone levels in male participants (all p < 0.05).ConclusionsThe chromosomal aberration yield in the Wuzhou area is strongly indication-dependent-highest for growth/developmental abnormalities (trisomy 21) and male primary infertility (47,XXY), intermediate for adverse obstetric history (balanced structural rearrangement), and low for female primary infertility. These findings support indication-directed karyotype analysis for genetic counseling and birth defect prevention; in addition, patients with sex chromosome aberrations warrant endocrine evaluation and long-term follow-up.