Endocrine Abstracts

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...

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 ...

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...

IntroductionPremature ovarian insufficiency (POI) is characterized by the loss of ovarian activity before the age of 40. It is associated with hypoestrogenism, raised gonadotrophins and oligomenorrhea or amenorrhea. POI is a heterogeneous disease that can result from different etiologies, including genetic, autoimmune, and iatrogenic. Of the genetic causes, single-gene mutations and chromosomal imbalances involving X chromosome or autosomes have been ass...