NCT01411644

Pheno- & Genotyping POF (WHO III)

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

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 650 (estimated)
• Sponsor: UMC Utrecht · Academic / Other
• Sex: Female
• Age: 12 Years
• Healthy volunteers: Not accepted

Summary

This study focuses on the phenotyping and genotyping of women with hypergonadotropic ovarian dysfunction (WHO III status).

Detailed description

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.

Conditions

• Premature Ovarian Failure (POF)
• Incipient Ovarian Failure
• Poor Response After Ovarian Hyperstimulation
• Early Menopause
• Hypergonadotropic Amenorrhea

Timeline

• Start date: 2005-01-01
• Primary completion: 2020-06-01
• Completion: 2020-06-01
• First posted: 2011-08-08
• Last updated: 2018-12-11

Locations

1 site across 1 country: Netherlands