Chromosome Abnormalities Related to Reproductive and Sexual Development Disorders: A 5-Year Retrospective Study

Abstract

Chromosomal abnormalities are the main genetic risk factor associated with reproductive and sexual development disorders (DSD). The goal of this study is to retrospectively evaluate the frequency of chromosomal aberrations in Moroccan subjects with problems of procreation or sexual ambiguity. A total of 1005 individuals, including 170 infertile couples, underwent cytogenetic analysis in the Cytogenetic Laboratory of the Pasteur Institute of Morocco. Heparinized blood samples were processed according to the standard karyotype method. A total (81.5%) of the patients studied had a normal karyotype, while the remaining (18.5%) patients had an abnormal karyotype. Female patients had more chromosomal abnormalities (52%) than male patients (48%). These chromosomal aberrations included 154 cases (83%) of sex chromosomal abnormalities, the most common being Turner’s syndrome and Klinefelter’s syndrome, and 31 cases (17%) had autosomal aberrations, especially chromosome 9 reversal (inv(9)(p12;q13)). The present data shows that among 170 couples, 10.6% had chromosomal abnormalities mainly involved in the occurrence of recurrent miscarriages. Genotype-phenotype correlations could not be made, and therefore, studies using more resolutive molecular biology techniques would be desirable.

Evaluation of chromosomal abnormalities in the postnatal cohort: A single‐center study on 14,242 patients

“…In patients referred for disorders of sex development, the majority (80.9%) did not exhibit numerical or structural chromosomal anomalies. Comparing the findings of this study with literature related to this indication, it is observed that the prevalence of chromosomal abnormalities in disorders of sex development (18.5%) aligns with a previous report 31 . This finding is consistent with previous reports indicating that many cases of disorders of sex development are not associated with detectable chromosomal abnormalities 32 .…”

An atypical erectile dysfunction patient with infertility treated with penile prosthesis implantation and testicular epididymal sperm aspiration (TESA)-intracytoplasmic sperm injection (ICSI): A case report

“…Multiple types of chromosomal abnormality can affect sex development and/or lead to sexual dysfunction such as ED. [9–11] In addition, several ED-related genes have been uncovered, for example, the dysregulation of Myocardin gene expression has been found to be an important pathological mechanism for diabetic ED. [12,13] Although this patient presents a normal male 46, XY karyotype, genetic mutation and aberrant gene expression cannot be excluded.…”

“…Multiple types of chromosomal abnormality can affect sex development and/or lead to sexual dysfunction such as ED. [9][10][11] In addition, several ED-related genes have been uncovered, for example, the dysregulation of Myocardin gene expression has Figure 1. Results of karyotyping.…”

Characterisation of eight cattle with Swyer syndrome by whole‐genome sequencing

“…In general, however, both structural and numerical abnormalities in the sex chromosomes of mammals is more tolerated than abnormalities in the autosomes, probably due to the effect of gene dosage compensation (Lyon, 1961). Nonetheless, abnormalities in the sex chromosomes tend to be associated with impaired reproductive performance including infertility (Benchikh et al, 2021; Iannuzzi et al, 2004; Kondoh et al, 1992). The incidence of Swyer syndrome in cattle is unknown.…”