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Related Concept Videos

Oogenesis02:07

Oogenesis

In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
Nondisjunction01:21

Nondisjunction

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Pharmacogenetics of Drug Metabolism: Overview01:27

Pharmacogenetics of Drug Metabolism: Overview

Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...

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Updated: Jun 21, 2026

Z-Scores for Assessing Ovarian Reserve in Young Patients Undergoing Fertility Preservation
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Z-Scores for Assessing Ovarian Reserve in Young Patients Undergoing Fertility Preservation

Published on: October 25, 2024

Premature ovarian failure and gene polymorphisms.

Marieke F van Dooren1, Aida M Bertoli-Avellab, Rogier A Oldenburg

  • 1Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3016 AH, The Netherlands.

Current Opinion in Obstetrics & Gynecology
|July 18, 2009
PubMed
Summary

Genetic research for premature ovarian insufficiency (POI) has identified several candidate genes. Further large-scale international studies are needed to confirm these findings and unravel the complex genetic causes of POI.

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Last Updated: Jun 21, 2026

Z-Scores for Assessing Ovarian Reserve in Young Patients Undergoing Fertility Preservation
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Published on: October 25, 2024

Fertility Preservation in Patients with Severe Ovarian Dysfunction
12:03

Fertility Preservation in Patients with Severe Ovarian Dysfunction

Published on: March 25, 2021

Area of Science:

  • Genetics
  • Reproductive Medicine
  • Endocrinology

Background:

  • Premature ovarian insufficiency (POI) affects ~1% of women under 40.
  • Previous genetic research primarily used candidate gene approaches.
  • Recent advancements include genome-wide searches for POI-related genes.

Purpose of the Study:

  • To review recent genetic studies on premature ovarian insufficiency (POI).
  • To discuss identified POI genes and loci.
  • To propose future research directions in POI genetics.

Main Methods:

  • Review of candidate gene studies.
  • Analysis of genome-wide linkage and association studies.

Main Results:

  • Candidate gene approach identified NOBOX, NR5A1, FIGLA, and PGRMC1 as associated with POI.
  • Genome-wide searches are uncovering novel POI-related loci and genes.

Conclusions:

  • The precise role of many identified candidate genes in POI requires further investigation.
  • Linkage studies are challenging due to the rarity of affected families.
  • Genome-wide association studies require larger cohorts and replication for validation.
  • Establishing a large international consortium is crucial for advancing POI genetics research.