About
Congenital adrenal hyperplasia (CAH) is a collection of inherited conditions that affect the body’s adrenal glands. In individuals with CAH, the adrenal glands are very large and are unable to produce certain chemicals, including cortisol, which helps protect the body during stress or illness in addition to helping it regulate the amount of sugar in blood. Early detection and treatment of children with CAH can support healthy development. There are three main forms of CAH — salt-wasting form, simple virilizing form, and non-classic CAH. Salt-wasting CAH accounts for about 75% of CAH cases. This is the most severe form. Signs of salt-wasting CAH usually begin within the first few weeks of life and include poor feeding, sleeping longer or more often, tiredness, vomiting, diarrhea, weight loss, irritability, and rapid heart rate. Many of these signs are caused by severe dehydration.
Condition Type:
Core Conditions
Frequency:
Congenital adrenal hyperplasia (CAH) affects approximately 1 in 15,000 babies in the United States.
More Information for Parents:
Also known as:
- CAH
- 21-OH deficiency
- Adrenogenital syndrome (AG syndrome)
- C-21-hydroxylase deficiency
- Congenital adrenocortical hyperplasia
- 21-hydroxylase deficiency
- Salt-losing CAH
- Attenuated CAH
- Late-onset CAH
Core Conditions
- Propionic Acidemia (PROP)
- Methylmalonic Acidemia (Methylmalonyl-CoA Mutase Deficiency) (MUT)
- Methylmalonic Acidemia (Cobalamin Conditions)
- Isovaleric Acidemia (IVA)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)
- 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
- Holocarboxylase Synthetase Deficiency (MCD)
- Beta-Ketothiolase Deficiency (BKT)
- Glutaric Acidemia, Type I (GA-1)
- Mucopolysaccharidosis, Type II (MPS II)
- Biotinidase Deficiency (BIOT)
- Critical Congenital Heart Disease (CCHD)
- Cystic Fibrosis (CF)
- Classic Galactosemia (GALT)
- Hearing Loss or Varying Hearing Levels
- Severe Combined Immunodeficiency (SCID)
- X-Linked Adrenoleukodystrophy (X-ALD)
- Pompe
- Spinal Muscular Atrophy (SMA)
- Mucopolysaccharidosis, Type I (MPS I)
Secondary
- Citrullinemia, Type II (CIT II)
- Hypermethioninemia (MET)
- Benign Hyperphenylalaninemia (H-PHE)
- Biopterin Defect in Cofactor Biosynthesis (BIOPT-BS)
- Biopterin Defect in Cofactor Regeneration (BIOPT-REG)
- Ornithine Transcarbamylase Deficiency (OTC)
- Carbamoyl Phosphate Synthetase Deficiency (CPS)
- Tyrosinemia, Type II (TYR II)
- Tyrosinemia, Type III (TYR III)