Mice with a defective human gene responsible for a rare genetic disease called congenital adrenal hyperplasia, have been developed for the first time. The achievement, presented at the 25th European Congress of Endocrinology, ...
May 15, 2023
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An over-medicalized approach to support for adults with variations in sex characteristics means their emotional and psychological needs are being overlooked, a new report shows.
Apr 21, 2022
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Children with adrenal insufficiency have a higher risk of dying than those with other lifelong conditions, according to research by the University of Manchester and Manchester University NHS Foundation Trust scientists.
Oct 26, 2021
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Congenital adrenal hyperplasia (CAH) is a disorder that affects the adrenal gland's ability to release hormones that regulate the body's response to stress and illness. CAH is treatable, but can be potentially life-threatening ...
Nov 18, 2020
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Research led by the Universities of Birmingham and Manchester has made a connection between the way baby wallabies produce male hormones and how some human girls are born with genitalia that resemble those of a boy.
Oct 16, 2019
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A novel therapy, pioneered by researchers from University of Sheffield, is helping to transform the lives of children with a life-threatening hormone deficiency.
Jan 10, 2019
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The Endocrine Society today issued a Clinical Practice Guideline that offers best practices for healthcare providers on how to promptly diagnose, treat, and manage patients with congenital adrenal hyperplasia (CAH), an inherited ...
Sep 27, 2018
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A new study has definitively shown that a single treatment with gene therapy using adeno-associated viral (AAV) vector gene delivery to replace the defective gene responsible for congenital adrenal hyperplasia (CAH) will ...
Mar 29, 2018
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In a new study, published in Cell Reports, researchers from Queen Mary University of London used cells derived from urine to take the first step in generating an artificial adrenal gland, which could help develop future treatments ...
Jan 30, 2018
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A complete clinical and genetic profile of a rare inherited disorder, steroid 11-hydroxylase deficiency, which can cause genital masculinization in females, is being reported by an international group of researchers led by ...
Jan 30, 2017
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Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). CAH is one of the possible underlying synthesis problems in Addison’s disease. CAH is a genetic disorder in which girls are masculinized because the adrenal glands secrete large amounts of androgen during prenatal development. The extra androgen does not affect a baby boy's physical development, but in baby girls it can enlarge the clitoris so that it resembles a penis. The girls sometimes have surgery during infancy to correct their physical appearance, although this practice is highly controversial, and they can receive hormone therapy to correct the imbalance of androgen. During childhood and adolescence, girls with CAH prefer masculine activities and male playmates to a much greater extent than girls not exposed to these amounts of androgen.
Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults.
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