Y chromosome microdeletions in infertile Moroccan males: 10 years laboratory experience in AZF deletions

Genetic causes of male infertility are abnormalities in chromosome numbers and/or structures, Y-chromosome deletions and gene mutations. Genetic screening of male infertility is rarely done in our country. The purpose of the study was to investigate the frequencies and types of Y chromosome microdeletions in infertile men, based on studies done in the Human Genetics Laboratory of the Pasteur Institute in Morocco.A total of 543 infertile men were screened for Y chromosome microdeletions.The prevalence of AZF Y-chromosome microdeletions among infertile men range from 3% to 10% depending on patients selected. The most frequent microdeletions were detected in the AZFc region, followed by AZFbc, AZFb, AZFa, AZFab.These results indicate the need for Y chromosome microdeletion screening for better management of infertile patients.We hope to encourage use of genetic diagnosis and also research in this field to initiate collaboration for clinical management and appropriate genetic diagnosis and counselling for male infertility

Genetic study of sex inversion in humans

Sex reversal is considered to be a form of disorders of sex development or DSD (disorders/Differences of sex development). This is an inconsistency between gonadal, phenotypic and chromosomal sex. Sexual development, including the development of gonads and organs reproduction and the acquisition of secondary sexual characteristics, is under genetic control. Indeed, following the bibliographic study carried out in this report, we were able to better understand the pathophysiology of sex reversal, enumerate the associated genetic mutations and identify the signaling pathways affected. In addition, a retrospective study was performed to determine the frequency of sex reversal compared to other categories of DSD. This work focused on a sample of 981 patients with clinical signs indicating the presence of DSD. These patients presented to the Cytogenetics laboratory of the Institut Pasteur in Morocco between the years 2011 and 2021. The karyotype was performed on a heparinized tube according to the standard method. Based on the karyotype results, we found 74 cases of sex inversion corresponding to 7.54%. Abnormal karyotypes accounted for 37.31% with a predominance of Turner syndrome (41.53%), 26.23% of Klinefelter syndrome, 12.3% of patients presented with XY female type sex inversion, 7.92% with sex reversal type XX men and 7.65% had mixed gonadal dysgenesis. Finally, to guide the diagnosis, we established a course of action indicating the genes which are the most incriminated in the two types of sex inversion

Novel pathogenic WHRN variant causing hearing loss in a moroccan family

International audienceThe most prevalent sensory disease in humans is deafness. A variety of genes have been linked to hearing loss, which can either be isolated (non-syndromic) or associated with lesions in other organs (syndromic). It has been discovered that WHRN variants are responsible for non-syndromic hearing loss and Usher syndrome type II

Anaphylactic shock during hydatid cyst surgery

Intraoperative anaphylactic shock is an unusual complication. Different causes can be involved. Surgery of hydatid cyst is rarely responsible. About a case report of anaphylactic shock due to hydatid cyst surgery, the authors discuss the mechanisms, principles of treatment, and prevention measures of this complication