Premature Ovarian Failure (POF) Clinical Trial
Official title:
Phenotyping and Genotyping of Women Presenting With Ovarian Dysfunction Associated With a Hypergonadotropic Hypo-estrogenic Hormonal Status (WHO III) and Their First and Second Degree Relatives
This study focuses on the phenotyping and genotyping of women with hypergonadotropic ovarian dysfunction (WHO III status).
First goal of the study is to phenotype patiens with hypergonadotropic ovarian dysfunction
(WHO III) adequately. This group includes women with premature ovarian failure (POF),
incipient ovarian failure (IOF), poor response after ovarian hyperstimulation, early
menopause and hypergonadotropic primary amenorrhea. The standardized phenotyping consists of
a questionnaire focusing on reproductive, medical, and family history; ultrasonography to
assess ovarian reserve and/or antral follicle count and obtaining an extra blood sampling
during routine endocrine screening for genotyping.
Phenotyping of patients presenting with ovarian dysfunction is of crucial importance when
genotyping will be performed. The goal of this genotyping will be the identification of
genetic factors associated with the (premature) depletion of the stock of ovarian follicles.
It will be performed for isolated WHO III patients in an association (case-control) study for
known candidate genes. In familial WHO III cases, genome wide linkage analysis will be
performed.
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