Clinically ovarian failure is presented by primary or secondary amenorrhea and high levels of pituitary gonadotropins mainly FSH. Monossomy or X-chromosome rearrangements are among a variable number of suggested etiopathogenic factors of ovarian failure in young women. Besides in Turner syndrome (X-monossomy or mosaicism), where the short stature and sexual infantilism point to the diagnosis, X-chromosome long arm (Xq) rearrangements, or genetic mutations of genes mapped at this segment are related with ovarian failure presented in prepubertal girls and in young women without other clinical signal. The present revision focuses these chromosomal abnormalities, some of them disclosed by conventional cytogenetic methods and other only disclosed by means of molecular biological tools
Hypergonadotropic hypogonadism; Pure gonad digenesis; Premature ovarian failure; FRAXA-premutation; QM-gene; DIA-gene