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Related Experiment Video

Updated: May 14, 2026

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
08:46

Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms

Published on: December 9, 2015

Gonadotropin resistance.

Ana Claudia Latronico1, Ivo Jorge Prado Arnhold

  • 1Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42, Hospital das Clínicas, Disciplina de Endocrinologia e Metabologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil. anacl@usp.br

Endocrine Development
|February 9, 2013
PubMed
Summary

Inactivating mutations in gonadotropin receptors (LHCGR and FSHR) cause reproductive issues. These genetic variations reveal the distinct roles of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) in fertility.

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Area of Science:

  • Reproductive Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • Pituitary gonadotropins, luteinizing hormone (LH) and follicle-stimulating hormone (FSH), are critical for reproductive function.
  • LH and FSH signal through G protein-coupled receptors, with LH and human chorionic gonadotropin (hCG) sharing the luteinizing hormone/chorionic gonadotropin receptor (LHCGR).

Purpose of the Study:

  • To elucidate the clinical and genetic spectrum of inactivating mutations in human gonadotropin receptors.
  • To understand the differential roles of LH and FSH in gonadal function through natural genetic models.

Main Methods:

  • Analysis of patients with inactivating mutations in LHCGR and FSH receptor genes.
  • Correlation of genotype severity with clinical phenotypes in affected males and females.
  • Assessment of hormonal profiles (LH, FSH, estradiol, progesterone, testosterone) and gonadal characteristics.

Main Results:

  • Inactivating LHCGR mutations cause a spectrum of disorders, including disorders of sex development in females and micropenis/hypergonadotropic hypogonadism in males, with phenotypes correlating with mutation severity.
  • FSH receptor mutations lead to premature ovarian failure in women and impaired spermatogenesis/small testes in men.
  • Affected individuals exhibit elevated LH levels, while FSH is typically normal, and sex hormone levels are often reduced.

Conclusions:

  • Inactivating mutations in LHCGR and FSH receptor serve as valuable natural models for studying gonadotropin function.
  • These mutations highlight the distinct and essential roles of LH and FSH in human reproduction and gonadal development.
  • Understanding these genetic variations is crucial for diagnosing and managing reproductive dysfunction.