Purpose: Several causes for primary ovarian insufficiency have been described, including iatrogenic and environmental factor, viral infections, chronic disease as well as genetic alterations. Given the large number of genes described in the literature so far, the aim of this review was to collect all the genetic mutations associated with non-syndromic primary ovarian insufficiency. Methods: All...

Background: The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies...

introduction: primary ovarian failure (pof) is a syndrome composed of amenorrhea, estrogen deficiency and follicular stimulating hormone (fsh) of menopausal ranges in young women. in this article, we report a case of primary amenorrhea that presented with full term pregnancy.case presentation: a 29-year old woman with a history of primary amenorrhea attended hospital with full term pregnancy. s...

Primary ovarian insufficiency (POI) can be a devastating disease impacting women below the age of forty. This involves a major decrease in the amount and quality of oocytes, or ovarian reserve in a woman. The distribution of single-nucleotide polymorphisms, rs10407022 and rs3741664, in Iraqi people and its association with primary ovarian insufficiency is the main objective of this study. The m...

The combination of Müllerian agenesis with inguinal ovaries accompanied by primary ovarian insufficiency is extremely rare. A 21-year-old Korean woman was referred to our center with primary amenorrhea. The patient was diagnosed with Müllerian agenesis with inguinal ovaries. Her hormonal profile showed hypergonadotrophic hypogonadism suggesting primary ovarian insufficiency. We performed laparo...

Resistant ovary syndrome (ROS) is a presentation of hypergonadotrophic hypogonadism condition with very low incidence. Infertility is one of the most common complaints of women with this syndrome. We herein present a case of a 27-year-old woman with all features of secondary amenorrhea and secondary sexual characteristics. In 2018, the patient was referred to the Hazret-e-Zeinab Infertility Cen...

OBJECTIVE The aim of this study was to elucidate the etiology and treatment of primary ovarian insufficiency, which is of unknown cause in 95% of the cases. MATERIALS AND METHODS Thirty patients aged 18-40 years who presented to Dicle University Faculty of Medicine Clinic of Obstetrics and Gynecology between June 2012 and January 2014 and were diagnosed as having primary ovarian insufficiency...

Primary ovarian insufficiency or premature menopause is one of the stressful problems in women younger than 40, which may cause numerous early or late psychological and physical complications. Failure of germ cell development is associated with complete ovarian insufficiency, while their decreased number is more likely associated with partial ovarian insufficiency, which leads to secondary amen...

From the Integrative Reproductive Medi­ cine Unit, Intramural Research Program on Reproductive and Adult Endocrinology, National Institute of Child Health and Hu­ man Development, National Institutes of Health, Bethesda, MD. Address reprint requests to Dr. Nelson at the Integrative Reproductive Medicine Unit, NICHD– Intramural Research Program on Repro­ ductive and Adult Endocrinology, CRC, Rm....