Primary ovarian insufficiency in woman with normal karyotype 46XX and double satellites on the short arm of chromosome 15 (15pss)

Abstract

A 31-year-old woman with oligomenorrhea and primary infertility consulted for evaluation. A clinical investigation, sonographic imaging of the reproductive organs, and an assessment of endogenous hormone production were performed. During the initial visit, the ultrasound identified a “pseudogestational sac” (i.e. fluid [blood or secretions] in the uterine cavity Pregnancy was excluded by serum beta-HCG assessment, and after 3 weeks, spontaneous menstruation occurred. Serum follicle-stimulating hormone, AMH, and inhibin B levels confirmed premature ovarian insufficiency (POI). High-resolution chromosomal evaluation identified normal 46XX karyotype with double satellites on chromosome 15 (46XX, 15 pss). Two months later, our patient presented with typical symptoms of hypoestrogenism: hot flushes, night sweats, and dyspareunia. Chromosome 15 with double satellites was not considered to be clinically significant. No cases of POI in women with karyotype 46XX 15pss have been reported. By reporting a case of POI in an infertile woman with double satellites on the short arm of chromosome 15 (15pss), we consider that autosomal chromosomes polymorphism may have clinical significance, and we recommend that the genetic cause of POI be investigated more seriously.     

Brain-derived neurotrophic factor (BDNF) plasma concentration in patients diagnosed with premature ovarian insufficiency (POI)

Premature ovarian insufficiency (POI) is defined as a cessation of function of ovaries in women younger than 40 years old. Brain-derived neurotrophic factor (BDNF) is a protein critically involved in neuronal growth and metabolism. BDNF also has been shown to be important regulator of oocyte maturation. Recent data show that BDNF can be potentially involved in POI pathology. The aim of the study was to assess the BDNF plasma concentrations in patients diagnosed with idiopathic POI. 23 women diagnosed with POI (age 31?±?7 years) and 18 (age 31?±?3) controls were included to the study, matched according to age and body mass index. The BDNF concentrations were measured using competitive enzyme-linked immunosorbent assay (ELISA). Hormonal and metabolic parameters were measured in all individuals, in controls in late follicular phase. The POI group demonstrated lower mean plasma concentrations of BDNF (429.25?±?65.52?pg/ml) in comparison to healthy controls (479.75?±?34.75?pg/ml, p?=?0.0345). The BDNF plasma concentration correlated negatively (R?=??0.79, p?相似文献   

Ovulation induction in a woman with premature ovarian failure resulting from a partial deletion of the X chromosome long arm, 46,X,del(X)(q22)

Objective: To report successful ovulation induction in a woman with premature ovarian failure (POF) resulting from a partial Xq deletion.Design: An uncontrolled study. Setting: University hospital.Patient(s): A 27-year-old woman with 46,X,del(X)(q22) who had hypergonadotropic secondary amenorrhea.Intervention(s): Injections of hMG (225 IU/d) for 8 consecutive days after endogenous gonadotropin suppression with a long-acting GnRH agonist (900 μg/d) for 12 weeks, together with cyclic sex steroid replacement therapy.Main Outcome Measures: Serum concentrations of E₂ and P as well as ultrasonography.Result(s): Folliculogenesis and ovulation.Conclusion(s): Ovulation induction is possible in patients with POF caused by X chromosome aberrations.