Genetic Etiology of Primary Premature Ovarian Insufficiency

Abstract

SUMMARY -Primary premature ovarian insuffi ciency (PPOI) is characterized by hypergonadotropic amenorrhea and hypoestrogenism in women under 40 years of age. PPOI incidence is 1:10,000 in women aged 18-25, 1:1000 in women aged 25-30 and 1:100 in women aged 35-40. In 10%-28% of cases, PPOI causes primary and in 4%-18% secondary amenorrhea. Th e process is a consequence of accelerated oocyte atresia, diminished number of germinated cells, and central nervous system aging. Specifi c genes are responsible for the control of oocyte number undergoing the ovulation process and the time to cessation of the reproductive function. A positive family history of PPOI is found in 15% of women with PPOI, indicating the existing genetic etiology. Primary POI comprises genetic aberrations linked to chromosome X (monosomy, trisomy, translocation, deletion) or to autosomal chromosome. Secondary POI implies surgical removal of ovaries, chemotherapy and radiotherapy, and infections. Diagnostic criteria include follicle stimulating hormone level >40 IU/L and estradiol level <50 pmol/L.

Individualization of Custom Compounded Hormone Therapy in a Patient with Chemotherapy Induced Premature Ovarian Insufficiency and Impaired Liver Function – Case Report

“…Artificial premature ovarian failure seemed to be abrupt cessation of reproductive hormonal function which led to impaired QoL. Therefore, HT was extremely important not only to improve her QoL but also to resume her normal life ( 8 ). Usually, for women with POI, a higher dose of estrogen is needed and maintained until the age of natural menopause ( 8 , 9 ).…”

Palmaris Longus Absent in One Identical Twin: a Case Report

“…The case described herewith is very rare and presents the first-described distinction in the presence or absence of the PL in twins. It is known that variations often occur in one of the paired organs, muscles of the body, but not in the other, and this suggests that a genetic trait may not necessarily be bilateral ( 16 ). A genetic trait is probably determined by the interaction of an individual’s genes and developmental environment in the uterus.…”

Comparison of quality of life and related factors according to premature menopause using the Korea National Health and Nutrition Examination Survey (2014-2017)

“…조기폐경은 40세 이전에 폐경이 되는 것으로 [1] 무월경 여성 중 10-28%에서 나타나는 것으로 보고되고 있다 [2]. 우리나라에서 40 세 이전에 폐경 장애로 진료를 받은 여성은 2014년 3,575명에서 2018년 약 6,300명으로 증가하는 추세에 있다 [3].…”