Related Experiment Video
Updated: May 3, 2026
09:07
Detecting the Ligand-binding Domain Dimerization Activity of Estrogen Receptor Alpha Using the Mammalian Two-Hybrid Assay
Published on: December 19, 2018
5.8K
Aromatase and estrogen receptor α deficiency
1Department of Obstetrics and Gynecology, Northwestern University, Chicago, Illinois.
Fertility and Sterility
|February 4, 2014
Summary
Estrogen deficiency due to aromatase deficiency (CYP19A1 gene mutations) causes ambiguous genitalia in females and tall stature with osteoporosis in males. Estrogen resistance (ESR1 gene mutations) presents similarly.
Area of Science:
- Endocrinology
- Human Genetics
- Reproductive Biology
Background:
- Estrogen plays crucial roles in human physiology, impacting sexual development and bone health.
- Mutations in the CYP19A1 gene lead to aromatase deficiency, affecting estrogen biosynthesis.
- Estrogen receptor alpha (ESR1) gene mutations cause estrogen resistance.
Purpose of the Study:
- To investigate the physiological roles of estrogen in humans.
- To describe the phenotypes associated with estrogen biosynthesis and action disruptions.
- To clarify the impact of estrogen deficiency and resistance on sexual development and health.
Main Methods:
- Phenotypic analysis of individuals with CYP19A1 and ESR1 gene mutations.
- Review of existing literature on estrogen-related genetic disorders.
- Comparison of clinical presentations between aromatase deficiency and estrogen resistance.
Main Results:
- Aromatase deficiency in 46,XX fetuses causes ambiguous genitalia; affected girls experience hypergonadotropic hypogonadism and virilization at puberty.
- Affected 46,XY males with aromatase deficiency exhibit normal male sexual development but are extremely tall with delayed epiphyseal closure and osteoporosis.
- Individuals with ESR1 mutations show clinical presentations similar to those with aromatase deficiency.
Conclusions:
- Estrogen is essential for normal sexual differentiation and pubertal development in both sexes.
- Estrogen deficiency significantly impacts bone metabolism and linear growth in males.
- Disruptions in estrogen biosynthesis or action lead to distinct yet overlapping clinical phenotypes.
More Related Videos
Related Concept Videos
01:11Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
81
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...
81
01:31Transducer Mechanism: Nuclear Receptors
6.6K
Nuclear receptors, or NRs, are unique transcription factors that regulate gene transcription and affect the cellular pathways involved in reproduction, development, or metabolism. Their ability to be stimulated by small lipophilic ligands and control vital cellular processes makes them ideal drug targets. Nearly 10-15% of currently prescribed drugs target these receptors.
About 48 different soluble family members of nuclear receptors are identified that can be divided into two main classes:
About 48 different soluble family members of nuclear receptors are identified that can be divided into two main classes:
6.6K
01:21Smooth Endoplasmic Reticulum
6.6K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
6.6K
01:03Olfactory Receptors: Location and Structure
10.5K
The process of olfaction, also known as the sense of smell, is a sophisticated chemical response system. The specialized sensory neurons that facilitate this process, known as olfactory receptor neurons, are situated in an upper segment of the nasal cavity, known as the olfactory epithelium. Olfactory sensory neurons are bipolar, with their dendrites extending from the epithelium's apex into the mucus that lines the nasal cavity. Airborne molecules, when inhaled, traverse the olfactory...
10.5K
01:20Inborn Errors of Metabolism
1.1K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.1K
02:32Exon Recombination
3.1K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
3.1K