Congenital adrenal hyperplasia

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Congenital adrenal hyperplasia (CAH) is a form of adrenal hyperplasia related to a variety of autosomal recessive disorders in adrenal steroidogenesis.

Clinical presentation

virilization of female fetuses
electrolyte imbalance related to salt-losing crises
dehydration

Pathology

It is an inborn error of enzymes involved in cortisol synthesis.

Aetiology

21 alpha hydroxylase deficiency: ~90% of cases⁵.
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~~ a normal neonatal adrenal: can be differentiated from CAH by characteristic cerebriform appearance on sonography in CAH

-<p><strong>Congenital adrenal hyperplasia (CAH)</strong> is a form of <a href="/articles/adrenal-hyperplasia">adrenal hyperplasia</a>. </p><h4>Pathology</h4><p>It is an inborn error of enzymes involved in cortisol synthesis. </p><h5>Aetiology </h5><ul>
~~-<li>21 alpha hydroxylase deficiency: ~90% of cases <sup>5</sup>.</li>~~
~~-<li>11 beta hydroxylase deficiency </li>~~
~~-</ul><h5>Genetics</h5><p>It carries an autosomal recessive inheritance.</p><h4>Clinical presentation</h4><ul>~~
~~-<li>electrolyte imbalance</li>~~
~~-<li>virilization</li>~~
+<p><strong>Congenital adrenal hyperplasia (CAH)</strong> is a form of <a href="/articles/adrenal-hyperplasia">adrenal hyperplasia</a> related to a variety of autosomal recessive disorders in adrenal steroidogenesis. </p><h4>Clinical presentation</h4><ul>
+<li>
+<span style="font-size:13px; line-height:1.6">virilization</span><span style="font-size:13px; line-height:1.6"> of female fetuses </span>
+</li>
+<li>electrolyte imbalance related to<span style="font-size:13px; line-height:1.6"> salt-losing crises </span>
+</li>
~~-</ul><h4>Radiographic features</h4><h5>Ultrasound</h5><p>May show:</p><ul>~~
+</ul><h4>Pathology</h4><p>It is an inborn error of enzymes involved in cortisol synthesis. </p><h5>Aetiology </h5><ul>
+<li>21 alpha hydroxylase deficiency: ~90% of cases <sup>5</sup>.</li>
+<li>11 beta hydroxylase deficiency </li>
+</ul><h5>Genetics</h5><p>It carries an autosomal recessive inheritance.</p><h4>Radiographic features</h4><h5>Ultrasound</h5><p>May show:</p><ul>
~~-</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>~~
+</ul><h4>Differential diagnosis</h4><p>Consider a normal neonatal adrenal: can be differentiated from CAH by characteristic cerebriform appearance on sonography in CAH</p>

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