Premature ovarian failure (POF) is a genetically and phenotypically heterogeneous disorder that includes individuals with manifestations ranging from primary amenorrhea to loss of menstrual function prior to age 40. POF presents as hypergonadotropic hypogonadism and can be part of a syndrome or occur in isolation. Here, we studied 3 sisters with primary amenorrhea, hypothyroidism, and hypergona...

failure to respond adequately to standard protocols and to recruit adequate follicles is called ‘poor response’. this results in decreased oocyte production, cycle cancellation and, overall, is associated with a significantly diminished probability of pregnancy. it has been shown that ovarian reserve tests, such as basal fsh, antimullarian hormone (amh), inhibin b, basal estradiol, antral folli...

Premature ovarian failure (POF) is characterized by hypergonadotropic hypogonadism and amenorrhea before the age of 40. The condition has a heterogeneous background but genetic factors are demonstrated by the occurrence of familial cases. We identified a mother and daughter with POF both of whom carry an X;autosome translocation [t(X;11)(q24;q13)]. RNA expression studies of genes flanking the X...

premature ovarian failure (pof) is a heterogeneous syndrome with several causative factors. autoimmune mechanisms are involved in pathogenesis of 4-30 % of pof cases. the present review focuses on the role of autoimmunity in the pathophysiology of pof. the evidences for an autoimmune etiology are: demonstration of ovarian autoantibodies, the presence of lymphocytic oophoritis, and association w...

background and objective: it is well known that menstrual period and ovarian function are affected by chemotherapy. although breast cancer is the most common cause of chemotherapy in women and ovarian hormones have very important direct and indirect effects on overall survival, disease-free survival, and life quality of patients, but few studies have addressed the frequency and related factors ...

Hypergonadotropic ovarian dysgenesis (ODG) with normal karyotype is a heterogeneous condition that in some cases displays Mendelian recessive inheritance. By systematically searching for linkage in multiplex affected families, we mapped a locus for ODG to chromosome 2p. As the previously cloned follicle-stimulating hormone receptor (FSHR) gene had been assigned to 2p, we searched it for mutatio...

Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplas...