ECE2022 Poster Presentations Reproductive and Developmental Endocrinology (61 abstracts)
Phenotypic and genotypic heterogeneity of sexual development disorders 46, XY in the Tunisian population
Faten Haj Kacem Akid 1 , Mohamed Abdellahi Mohamed Ahmed 1 , Dhieb Nessrine 1 , Benrhouma B 2 , Kammoun T 3 , Hachicha M 3 , Kallel N 4 , Belguith N 2 , Mouna Mnif 1 & Mohamed Abid 1
1Department of Endocrinology and Diabetology CHU Hedi Chaker, Sfax, Tunisia; 2Human Genetics Department, CHU Hedi Chaker, Sfax, Tunisia; 3Pediatric Department, CHU Hedi Chaker Sfax, Tunisia; 4Department of Internal Medicine, Gabes, Tunisia
Introduction: Sexual disorders 46 XY DSD are responsible for a range of phenotypic disorders, ranging from an ambiguous phenotype to a complete female phenotype. In this context, we report a cohort of 22 46 XY patients with a female phenotype in order to establish a phenotype-genotype correlation.
Results: The average age at diagnosis was 15.5 years (E: 7 days-33 years). The reason for consultation was primary amenorrhea in 16 cases (72.7%), sexual ambiguity in 5 cases and inguinal hernia in 1 case. The standard karyotype showed a homogeneous chromosomal formula compatible with a male genetic sex, i.e. 46 XY, in 95% of cases and a mosaic formula, i.e. 46, XY/45, X in two cases. The diagnosis of gonadal dysgenesis was chosen in 4 patients (18.18%) in front of a completely female phenotype with ectopic gonads and frankly low levels of testosterone and HMA compared to age contrasting with increased FSH. Full LH resistance was retained in 3 patients with a female complete phenotype and low testosterone levels contrasting with high LH levels with histological Leydig cell agenesis, the biomolecular study of LH resistance confirmed the presence of a nonsense mutation Q525X in the second extracellular loop. A testicular steroidogenesis abnormality affecting the conversion of Δ4-androstenedione to testosterone was reported in 8 patients with a TESTO/Δ4-A<0.8 ratio after HCG, a molecular abnormality of the 17â-HSD3 gene was confirmed as homozygous in (c618C>A) in 4 patients and as heterozygous composite (Pc206X/Pg133R) in 4 others. A biomolecular abnormality of androgen resistance with the presence of a homozygous mutation of exon 5 (R753X) was identified in 5 patients with an evocative phenotype associated with high levels of testosterone and LH. Finally, a biomolecular abnormality of the 5° reductase gene was mentioned in 2 patients with an ambiguous phenotype associated with a base-increased Testo/DHT ratio and after HCG. A homozygous mutation of exon 4 (pC222T) was confirmed in a single patient.
Conclusion: The abnormalities of sexual differentiation cover a wide spectrum of phenotypic and genotypic abnormalities and pose a real problem of etiological diagnosis. To be sure, advances in molecular biology are of great value in understanding the etiopathological links between clinical aspects and the cascade of sexual differentiation.
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2024 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more