Pediatric endocrinology update: an overview. The essential roles of estrogens in pubertal growth, epiphyseal fusion and bone turnover: lessons from mutations in the genes for aromatase and the estrogen receptor

Hormone Research
M H MacGillivrayE P Smith

Abstract

The goals of this presentation are to review the essential roles of aromatase, estrogens and the estrogen receptor in pubertal growth. Estrogen deficiency due to mutations in the aromatase gene (CYP19) and estrogen resistance due to disruptive mutations in the estrogen receptor gene have no effect on normal male sexual maturation in puberty. However, they lead to absence of the pubertal growth spurt, delayed bone maturation, unfused epiphyses, continued growth into adulthood and very tall adult stature in both sexes. Gonadotropin and androgen levels are elevated in patients with either estrogen deficiency (aromatase deficiency) or estrogen resistance (estrogen receptor mutation). Glucose intolerance, hyperinsulinemia and lipid abnormalities are also present. Skeletal integrity is compromised. Increased bone turnover, reduced bone mineral density and osteoporosis develop in both sexes. Sexual orientation is appropriate in males and females. In females, aromatase deficiency in the ovary causes pubertal virilization and multicystic ovaries because of elevated gonadotropins and androgens. Simultaneously, secondary sexual maturation fails to occur. Placental aromatase deficiency results in virilization of the mother and her female f...Continue Reading

Citations

Jan 8, 2000·Acta Paediatrica. Supplement·S D Chernausek, K M Attie
Dec 25, 2007·Birth Defects Research. Part B, Developmental and Reproductive Toxicology·Edward W Carney, Carole A Kimmel
Mar 22, 2013·Cellular and Molecular Life Sciences : CMLS·A E BörjessonC Ohlsson
Feb 21, 2018·Scientific Reports·Xiaomin ChenDavid A Sullivan
Dec 10, 1999·Nature Biotechnology·B Hock, M Seifert
Feb 3, 2004·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·A S ChaginC Ohlsson
Dec 31, 2003·Environmental Health Perspectives·John C RockettGermaine M Buck
Jun 22, 2010·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Anna E BörjessonClaes Ohlsson
Sep 18, 2013·Nature Reviews. Endocrinology·Stavros C ManolagasMaria Almeida
Feb 17, 2017·Journal of Pediatric Endocrinology & Metabolism : JPEM·Jessica A Ferris, Mitchell E Geffner
Feb 4, 2005·Endocrine Reviews·Johannes D VeldhuisCyril Y Bowers
Apr 23, 2003·Journal of Pediatric Endocrinology & Metabolism : JPEM·Helen RobsonJan-Maarten Wit
Sep 23, 2010·American Journal of Physiology. Endocrinology and Metabolism·Lijie ShiStefan A Wudy
Mar 15, 2019·Journal of Research on Adolescence : the Official Journal of the Society for Research on Adolescence·Carlos F AylwinAlejandro Lomniczi
Mar 16, 2001·Breast Cancer Research : BCR·S Nilsson, J A Gustafsson
Jun 7, 2002·Endocrine Reviews·Munro PeacockTatiana Foroud
May 27, 2009·Child Development·Elizabeth A ShirtcliffSeth D Pollak
Mar 15, 2012·American Journal of Physiology. Endocrinology and Metabolism·A E BörjessonC Ohlsson
Nov 24, 2016·British Journal of Sports Medicine·Peter Sonksen
Feb 10, 2021·International Journal of Molecular Sciences·Noirrit-Esclassan EmmanuelleVinel Alexia
Aug 2, 2014·Experimental Eye Research·Raheleh Rahimi DarabadDavid A Sullivan
Apr 17, 2021·Journal of the Endocrine Society·Benjamin Udoka NwosuAustin F Lee
Nov 30, 2000·Biochemical and Biophysical Research Communications·C OhlssonJ A Gustafsson
Mar 17, 2007·Pathology·Stanley J Robboy, Francis Jaubert
Nov 25, 2011·Journal of Pediatric and Adolescent Gynecology·Lisa KenigsbergBina Shah

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Current Opinion in Pediatrics
P A Lee, S F Witchel
Journal of Endocrinological Investigation
Ranuccio NutiLuigi Gennari
Nature Clinical Practice. Endocrinology & Metabolism
M E E JonesEvan R Simpson
© 2022 Meta ULC. All rights reserved