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Congenital adrenal hyperplasia (CAH)
Congenital adrenal hyperplasia (CAH) includes several autosomal recessive disorders, each of which involves a deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both
Prevalence
7-10 / 100 000
Age of Onset
ICD-10
E25.0
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
Approximately 95% of CAH cases are caused by a mutation that leads to a deficiency of the enzyme 21-hydroxylase
FACT
Deficiency of 21-hydroxylase leads to an inability of the adrenal glands to produce cortisol and, in approximately 75% of patients, aldosterone
FACT
CAH patients may experience problems with growth and development in childhood, including early puberty, short stature or height, and fertility problems
FACT
Inadequately treated patients may develop progressive penile or clitoral enlargement, premature adrenarche, precocious puberty, and rapid linear growth
FACT
The two main types of CAH are classic and non-classic - classic is diagnosed at birth, and non-classic is typically diagnosed during adolescence
Interest over time
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Common signs & symptoms
Abnormality of metabolism/homeostasis
Accelerated skeletal maturation
Cryptorchidism
Female pseudohermaphroditism
Hypertension
Hypospadias
Increased circulating cortisol level
Current treatments
The best treatment options for congenital adrenal hyperplasia (CAH) depend on many factors including the type of CAH and the signs and symptoms present in each person. Many people with CAH require
Steroids
To replace the low hormones
Surgery
Girls with severe CAH who are born with ambiguous genitalia may undergo surgery to ensure proper function and/or to make the genitals look more female.