Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.

ABSTRACT:

Background

Premature ovarian insufficiency (POI) is a heterogeneous clinical syndrome defined by a premature loss of ovarian function that associates menstrual disturbances and hypergonatropic hypogonadism. POI is a major cause of female infertility affecting 1% of women before the age of 40 and up to 0.01% before the age of 20. The etiology of POI may be iatrogenic, auto-immune or genetic but remains however undetermined in a large majority of cases. An underlying genetic etiology has to be searched in idiopathic cases, particularly in the context of a family history of POI.

Methods

Whole exome sequencing (WES) was performed in trio in a Belgian patient presenting POI and in her two parents. The patient presented delayed puberty and primary amenorrhea with hypergonadotropic

SUBMITTER: Sassi A 

PROVIDER: S-EPMC8580073 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature