Perrault syndrome is an autosomal recessive disorder characterized by sensorineural deafness and ovarian dysgenesis. Some patients also have neurologic abnormalities, including cerebellar ataxia, nystagmus, polyneuropathy and mild mental retardation. The syndrome is known to be caused by mutations in HSD17B4 or HARS2 until now but few patients were reported. We report on two sporadic Korean pat...

Genetic and biochemical analyses have uncovered an essential role for nuclear factor erythroid 2-related factor 2 (Nrf2) in regulating phase II xenobiotic metabolism and antioxidant response. Here we show that Nrf2 protects against the ovarian toxicity of 4-vinylcyclohexene diepoxide (VCD) in mice. Nrf2-/- female mice exposed to VCD exhibit an age-dependent decline in reproduction leading to se...

Premature ovarian failure (POF) is the occurrence of hypergonadotropic hypoestrogenic amenorrhea in women under the age of forty years. It is idiopathic in 74-90% patients. Known cases can be divided into primary and secondary POF. In primary POF genetic aberrations can involve the X chromosome (monosomy, trisomy, translocations, deletions) or autosomes. Genetic mechanisms include reduced gene ...

Puberty is frequently delayed in adolescent patients with chronic renal failure, due to temporarily insufficient hypothalamo-pituitary stimulation of the gonads. In these patients, basal levels of gonadotropins are normal or slightly elevated due to increased plasma half-life of luteinizing hormone (LH) and follicle stimulating hormone (FSH) [1]. However, the response to gonadotropin releasing ...

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...

Case History. The patient presented at age four weeks with abdominal distension secondary to ascites and hepatosplenomegaly. She was not jaundiced. Reducing sugars were detected in her urine and the diagnosis of galactosaemia was confirmed by finding low levels in the erythrocytes of galactose -1 phosphate uridyl transferase (0.04 units/g Hb, normal range 14-25 units/g Hb) and an intermediate v...

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Early menopause or premature ovarian insufficiency (POI) is a common cause of infertility in women and affects about one per cent of young women. This disorder has significant psychological sequelae and major health implications. Its relevance has increased in recent years due to the fact that age of motherhood is being delayed in developed countries, with the risk of having either primary ovar...

Similar to women with Polycystic Ovary Syndrome (PCOS), female sheep treated prenatally with testosterone (T-females) are hypergonadotropic, exhibit neuroendocrine defects, multifollicular ovarian morphology, hyperinsulinemia and cycle defects. Hypergonadotropism and multifollicular morphology may in part be due to developmentally regulated increase in pituitary responsiveness to GnRH and may c...