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.
Highlights
Disorders of sex development are known for being an abnormal development of the internal and external genital organs [1].As for disorders of reproduction, they are defined as pathologies that can affect reproductive function in humans and cause conception failure [2]
The abnormalities could be specific to sex chromosomes such as Turner syndrome, Klinefelter syndrome, sex reversal, Jacob syndrome, triple X syndrome, and mixed gonadal dysgenesis
Structural rearrangements such as microdeletions of chromosome Y involving azoospermia factor (AZF) factor which is crucial for spermatogenesis, Y isochromosome: on the one hand, Yp isochromosome is implicated in male infertility since the AZF region is lost and the region of male determinism SRY is retained; on the other hand, Yq isochromosome is associated with female determinism with the presence of the AZF region [3]
Summary
Disorders of sex development are known for being an abnormal development of the internal and external genital organs [1].As for disorders of reproduction, they are defined as pathologies that can affect reproductive function in humans and cause conception failure [2]. The abnormalities could be specific to sex chromosomes such as Turner syndrome, Klinefelter syndrome, sex reversal ( called De la Chapelle syndrome for XX males), Jacob syndrome, triple X syndrome, and mixed gonadal dysgenesis. Structural rearrangements such as microdeletions of chromosome Y involving AZF factor which is crucial for spermatogenesis, Y isochromosome: on the one hand, Yp isochromosome is implicated in male infertility since the AZF region is lost and the region of male determinism SRY is retained; on the other hand, Yq isochromosome is associated with female determinism with the presence of the AZF region [3]. Deletion of Xp can lead to gonadal dysgenesis, infertility, or amenorrhea depending
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