ECE2024 Eposter Presentations Reproductive and Developmental Endocrinology (78 abstracts)
Genetics of the y chromosome in male infertility
Hamdi Frikha 1 , Nesrine Dhieb 1 , Souhir Maalej 1 , Khouloud Boujelben 1 , Dhoha Ben Salah 1 , Faten Haj Kacem Akid 1 , Fatma Mnif 1 , Nadia Charfi 1 , Mouna Mnif 1 , Mouna Elleuch 1 , Mohamed Abid 1 & Nabila Rekik Majdoub 1
1Hedi Chaker University Hospital, Department of Endocrinology, Tunisia
Introduction: Couple’s infertility is a major public health problem. Its prevalence is estimated at 15%. In half of the cases, this infertility is of male origin. Different etiologies may be involved, among which genetic abnormalities of the Y chromosome. In this context, we report the cases of two patients with a structural abnormality of the Y chromosome responsible for the abnormalities of spermatogenesis
Case Description: The first 26-year-old case presents for hyper gonadotropic hypogonadism and short stature with biologically a Testosterone level of 2.83 ng/ml contrasting with an increased level of FSH at 20.6 mIU/ml, and a LH level of 5.17 mIU/ml. The testicular ultrasound showed bilateral testicular hypotrophy with a left testis measuring 4.7 cc and a right testicle measuring 4.8 cc. The spermogram showed a reduced ejaculatory volume to 1.3 ml with azoospermia. The genetic study concluded in an isodicentry of the short arm of the Y chromosome with a marked breakpoint in the Yq11.22 region, found in 85% of cells. This chromosomal abnormality is responsible for a total deletion of the Azoospermia factor b (AZFb) and Azoospermia factor c (AZFC) regions, which could explain azoospermia in our patient. The second cell population is monosomy X. The latter is responsible for a single copy of the SHOX gene, involved in height development. The second 29-year-old case presents for morbid obesity and hypergonadotropic hypogonadism with a biology of testosterone at 1.47 ng/ml, FSH at 16.4 mIU/ml, and LH at 5.17 mIU/ml. The testicular ultrasound showed reduced testicles. The spermogram revealed extreme oligoasthenospermia. The genetic study objected to a deletion in the long arm of the Y chromosome carrying the spermatogenesis regulatory genes, involving the Azoospermia factor (AZF) region
Discussion: The study of structural abnormalities of the Y chromosome has made it possible to assign certain regions of this chromosome a major role in spermatogenesis and whose detailed characterization makes it possible to offer the patient an adapted treatment in terms of genetic counseling, preventive self-preservation, and hope of fatherhood
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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