Congenital adrenal hyperplasia, previously known as adrenogenital syndrome, is a group of seven autosomal recessive disorders relating to an enzyme deficiency affecting adrenal steroidogenesis.
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Epidemiology
The incidence is highly variable depending on the enzyme deficiency, ranging from 1 in 200-1000 for non-classic 21-alpha-hydroxylase deficiency, 1 in 10,000-20,000 for classic 21-alpha-hydroxylase deficiency, to the very rare subtypes (e.g. <30 cases reported of P450 cholesterol side-chain cleavage enzyme deficiency) 8.
Associations
20-30% of patients with congenital adrenal hyperplasia have adrenal tumors 10:
adenoma (usually non-functional)
myelolipoma (often associated with late diagnosis or poor control)
pheochromocytoma (rarely)
Clinical presentation
There are a variety of phenotypes depending on the production or lack thereof of glucocorticoid, mineralocorticoid and/or sex steroids. Common clinical presentations include 8:
virilization / atypical genitalia in females (due to androgen excess)
precocious puberty, hirsutism, oligomenorrhea/amenorrhea, female infertility
electrolyte imbalance related to a salt-losing crisis (neonatal salt wasting)
hypotension
Neonatal screening for 21-alpha-hydroxylase deficiency is present in many countries 8.
Pathology
Congenital adrenal hyperplasia is a group of seven autosomal recessive disorders of congenital cortisol synthesis involving a deficiency of one of the following enzymes 8:
-
21-alpha-hydroxylase
~90-95% of cases 5,8
mutation in the CYP21A2 gene 10
11-beta-hydroxylase
17-alpha-hydroxylase
3-beta-hydroxysteroid dehydrogenase type 2
steroidogenic acute regulatory protein
P450 cholesterol side-chain cleavage enzyme
P450 oxidoreductase
The adrenal glands are most commonly affected, followed by the gonads 9.
Radiographic features
Features of adrenal hyperplasia may be present 9 and the presence of any adrenal tumor should be sought 10.
Testicular masses may be identified representing testicular adrenal rest tumors (most but not all males with adrenal hyperplasia 9).
Ultrasound
Enlarged loops of adrenal gland or "cerebriform pattern" is highly specific 3.
Treatment and prognosis
Management relies on replacing the deficient glucocorticoid, mineralocorticoid, and/or sex steroid as well as antihypertensive treatment 8.
Differential diagnosis
normal neonatal adrenal gland: can be differentiated from congenital adrenal hyperplasia by the characteristic cerebriform appearance on sonography in the latter
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