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Congenital Adrenal Hyperplasia (CAH)

A group of genetic disorders that affect the adrenal glands. These glands sit on top of the kidneys and release hormones the body needs to function.

PubMed Health Glossary
(Source: NIH - National Institute of Child Health and Human Development)

About Congenital Adrenal Hyperplasia (CAH)

Congenital adrenal hyperplasia (pronounced kuhn-JEN-i-tl uh-DREEN-uhl hahy-per-PLEY-zhuh), or CAH, refers to a group of genetic disorders that affect the adrenal glands. These glands sit on top of the kidneys and release hormones the body needs to function. CAH creates imbalances in these hormones, which cause a wide range of symptoms in infants, children, and adults.

Most commonly, CAH causes male-like characteristics (such as excessive hair growth in girls/women, early hair development in boys) and puberty to occur too early in children. Girls with CAH may be born with ambiguity of their external genitalia, meaning their genitalia do not look like typical female genitalia.

CAH can be categorized as classic or nonclassic. The most common type of CAH can be life-threatening if it is left undiagnosed and untreated in newborns. Most patients with CAH must take daily medications to treat the symptoms....Read more about Congenital Adrenal Hyperplasia NIH - National Institute of Child Health and Human Development

What works? Research summarized

Evidence reviews

Prenatal dexamethasone use for the prevention of virilization in pregnancies at risk for classical congenital adrenal hyperplasia because of 21-hydroxylase (CYP21A2) deficiency: a systematic review and meta-analyses

CONTEXT: Prenatal treatment with dexamethasone to prevent virilization in pregnancies at risk for classical congenital adrenal hyperplasia (CAH) remains controversial.

The Management of Lower Urinary Tract Symptoms in Men [Internet]

The guideline covers men (18 and over) with a clinical working diagnosis of lower urinary tract symptoms (LUTS). Options for conservative, pharmacological, surgical, and complementary or alternative treatments are considered in terms of clinical and cost effectiveness.

Provision of information about newborn screening antenatally: a sequential exploratory mixed-methods project

The goals of current communication and consent for newborn screening would be attainable with a more personalised approach to information provision, from midwives, and prioritised in the third trimester.

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Summaries for consumers

Late Effects of Treatment for Childhood Cancer (PDQ®): Health Professional Version

Late effects of cancer treatment can cause serious, disabling, and life-threatening chronic health conditions that adversely affect the health of aging childhood cancer survivors. Learn about subsequent neoplasms and the cardiovascular, cognitive, psychosocial, digestive, endocrine, immune, musculoskeletal, reproductive, and urinary late effects of pediatric cancer treatment in this expert-reviewed summary.

Terms to know

Adrenal Glands
A gland located on each kidney that secretes hormones regulating metabolism, sexual function, water balance, and stress.
Amniocentesis
A prenatal diagnostic procedure in which a small sample of amniotic fluid is removed from the uterus by a needle inserted into the abdomen.
Autosomal Recessive
A pattern of inheritance in which both parents carry and pass on a defective gene to their child.
Congenital
Present since birth.
Congenital Abnormalities (Birth Defects)
Malformations of organs or body parts during development in utero.
Genetic
Genetic, used as an adjective, refers to genes.
Genetic Testing
Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder.
Hormones
A messenger molecule that helps coordinate the actions of various tissues; made in one part of the body and transported, via the bloodstream, to tissues and organs elsewhere in the body.
Hyperplasia
An abnormal increase in the number of cells in an organ or tissue.
Kidney
One of a pair of organs in the abdomen. The kidneys remove waste and extra water from the blood (as urine) and help keep chemicals (such as sodium, potassium, and calcium) balanced in the body. The kidneys also make hormones that help control blood pressure and stimulate bone marrow to make red blood cells.

More about Congenital Adrenal Hyperplasia

Photo of a baby

Also called: Congenital adrenal cortical hyperplasia, Congenital adrenogenital syndrome, Congenital adrenal gland hyperplasia, Hyperplastic

Other terms to know: See all 10
Adrenal Glands, Amniocentesis, Autosomal Recessive

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