Searchable abstracts of presentations at key conferences in endocrinology

ea0090ep924 | Reproductive and Developmental Endocrinology | ECE2023

Cytogenetic Study of Primary Ovarian Insufficiency: About 90 Cases

Ben Yahia Salwa , Kraoua Lilia , Belil Hela , Maazoul Faouzi , Mrad Ridha

Background: Primary Ovarian Insufficiency (POI) is defined as the loss of ovarian function before age 40. It is characterized by menstrual disturbance with raised gonadotropins (>25 UI/l). It can manifest as primary amenorrhea (PA) or secondary amenorrhea (SA). The causes of POI include chromosomal and genetic defects, autoimmune processes, chemotherapy, radiation, infections, and surgery. However, the etiology remains unidentified in 80% of cases referred to as idiopathic...

ea0090ep1159 | Late Breaking | ECE2023

Cytogenetic Study in 622 Infertile Men with Spermogram Abnormalities

Ben Yahia Salwa , Belil Hela , Maazoul Faouzi , Mrad Ridha , Kraoua Lilia

Background : Infertility affects 15% of couples. In 50% of cases, it can be explained by male infertility with abnormal spermatogenesis. Cytogenetic causes are identified in 15% of men with infertility.Materials and Methods: We report the results of a cytogenetic study performed in infertile men with spermogram abnormalities collected at the Department of Congenital and Hereditary Diseases of Charles Nicolle Hospital in Tunis, over 12 years from January ...

ea0073aep602 | Reproductive and Developmental Endocrinology | ECE2021

Syndromic premature ovarian insufficiency: report of 2 cases with blepharophimosis-ptosis-epicanthus inversus syndrome type 1

Kraoua Lilia , Fredj Hana , Adhoum Cyrine , Achour Ahlem , Maazoul Faouzi , Trabelsi Mediha , Mrad Ridha

IntroductionPremature ovarian insufficiency (POI) is defined by menstrual disturbance (oligomenorrhea or amenorrhea) before 40 years and confirmed by two FSH levels in the menopausal range, obtained at least a month apart. Some POI cases are syndromic such as Turner’s syndrome or Blepharophimosis–Ptosis–Epicanthus inversus Syndrome type 1 (BPES). BPES type 1 (MIM: 110100) is a rare autosomal dominant syndrome caused by mutations in FOX...