Congenital adrenal hyperplasia
Updates to Article Attributes
Body
was changed:
Congenital adrenal hyperplasia (CAH) is a form of adrenal hyperplasia.
Pathology
It is an inborn error of enzymes involved in cortisol synthesis.
Aetiology
- 21 alpha hydroxylase deficiency: ~90% of cases 5.
- 11 beta hydroxylase deficiency
Genetics
It carries an autosomal recessive inheritance.
Clinical presentation
- electrolyte imbalance
- virilization
- dehydration
Radiographic features
Ultrasound
May show:
- enlarged adrenal glands
-: size criteria is still debated - wrinkled surface of adrenals
-
cerebriform pattern of the adrenal glands
-: characteristic sign
Differential diagnosis
Consider:
- normal neonatal adrenal
- can: can be differentiated from CAH by characteristic cerebriform appearance on sonography in CAH
-<li>21 alpha hydroxylase deficiency : ~90% of cases <sup>5</sup>.</li>- +<li>21 alpha hydroxylase deficiency: ~90% of cases <sup>5</sup>.</li>
-</ul><p>Genetics</p><p>It carries an autosomal recessive inheritance.</p><h4>Clinical presentation</h4><ul>- +</ul><h5>Genetics</h5><p>It carries an autosomal recessive inheritance.</p><h4>Clinical presentation</h4><ul>
-</ul><h4>Radiographic features</h4><h5>Ultrasound</h5><p>May show</p><ul>-<li>enlarged adrenal glands - size criteria is still debated </li>- +</ul><h4>Radiographic features</h4><h5>Ultrasound</h5><p>May show:</p><ul>
- +<li>enlarged adrenal glands: size criteria is still debated </li>
-<a href="/articles/cerebriform-pattern-of-the-adrenal-glands">cerebriform pattern of the adrenal glands</a> - characteristic sign</li>-</ul><h4>Differential diagnosis</h4><p>Consider</p><ul><li>normal neonatal adrenal - can be differentiated from CAH by characteristic cerebriform appearance on sonography in CAH</li></ul>- +<a href="/articles/cerebriform-pattern-of-the-adrenal-glands">cerebriform pattern of the adrenal glands</a>: characteristic sign</li>
- +</ul><h4>Differential diagnosis</h4><p>Consider:</p><ul><li>normal neonatal adrenal: can be differentiated from CAH by characteristic cerebriform appearance on sonography in CAH</li></ul>