Congenital adrenal hyperplasia
Updates to Article Attributes
Congenital adrenal hyperplasia, previously known as adrenogenital syndrome, is a group of seven autosomal recessive disorders relating to an enzyme deficiency affecting adrenal steroidogenesis.
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 through to very rare (<30 cases reported of P450 cholesterol side-chain cleavage enzyme deficiency) 8.
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)
- testicular masses
- hypertension
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.
Associations
20-30% of patients with congenital adrenal hyperplasia have adrenal tumours 10:
- adenoma (usually non-functional)
- myelolipoma (often associated with late diagnosis or poor control)
- pheochromocytoma (rarely)
Radiographic features
Features of adrenal hyperplasia may be present 9 and the presence of any adrenal tumour should be sought 10.
Testicular masses may be identified representing testicular adrenal rest tumours (most but not all males 9).
Treatment and prognosis
Management relies on replacing the deficient glucocorticoid, mineralocorticoid, and/or sex steroid as well as anti-hypertensive treatment 8.
Differential diagnosis
- normal neonatal adrenal: can be differentiated from congenital adrenal hyperplasia (CAH) by the characteristic cerebriform appearance on sonography in CAH
-<p><strong>Congenital adrenal hyperplasia</strong>, previously known as <strong>adrenogenital syndrome</strong>, is a group of seven autosomal recessive disorders relating to an enzyme deficiency affecting adrenal steroidogenesis.</p><h4>Epidemiology</h4><p>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 through to very rare (<30 cases reported of P450 cholesterol side-chain cleavage enzyme deficiency) <sup>8</sup>.</p><h4>Clinical presentation</h4><p>There are a variety of phenotypes depending on the production or lack thereof glucocorticoid, mineralocorticoid and/or sex steroids. Common clinical presentations include <sup>8</sup>:</p><ul>- +<p><strong>Congenital adrenal hyperplasia</strong>, previously known as <strong>adrenogenital syndrome</strong>, is a group of seven autosomal recessive disorders relating to an enzyme deficiency affecting adrenal steroidogenesis.</p><h4>Epidemiology</h4><p>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 through to very rare (<30 cases reported of P450 cholesterol side-chain cleavage enzyme deficiency) <sup>8</sup>.</p><h4>Clinical presentation</h4><p>There are a variety of phenotypes depending on the production or lack thereof of glucocorticoid, mineralocorticoid and/or sex steroids. Common clinical presentations include <sup>8</sup>:</p><ul>
-<li><a title="Bilateral testicular masses" href="/articles/bilateral-testicular-lesions">testicular masses</a></li>-<li><a title="Hypertension" href="/articles/hypertension">hypertension</a></li>- +<li><a href="/articles/bilateral-testicular-lesions">testicular masses</a></li>
- +<li><a href="/articles/hypertension">hypertension</a></li>
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