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<p>Congenital adrenal hyperplasia (CAH) comprises a&#xa0;group of autosomal recessive inherited metabolic diseases in which adrenal insufficiency occurs due to a&#xa0;loss of enzyme activity. The most commonly affected enzyme is 21-hydroxylase. In addition to a&#xa0;deficiency of cortisol, this results in an excess of adrenal androgens which is already present prenatally and leads to external virilization in female fetuses. Depending on the residual activity of the enzyme, a&#xa0;clinical distinction is made between classic CAH with salt loss subtype or the simple virilizing subtype and non-classic CAH. Hallmarks of the classical form are ambiguous genitalia in females and the lifelong threat of life-threatening adrenal crisis. Typical symptoms of non-classical form in females are hirsutism, irregular menstrual cycles, subfertility, and acne. Adequate clinical and therapeutic management is therefore crucial for affected patients. In classic CAH, lifelong glucocorticoid substitution and, depending on the subtype, additional mineralocorticoid therapy is necessary. The aim is to sufficiently replace gluco- and mineralocorticoids leading to simultaneous adequate androgen control. This often requires supraphysiological glucocorticoid doses causing increased morbidity and mortality. The challenge here is to find a&#xa0;balance between underreplacement and overtreatment. In the case of non-classical CAH, treatment is indicated when symptoms occur, either by means of low-dose glucocorticoid therapy or antiandrogenic therapy.</p>

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Praktisches Management des Adrenogenitalen Syndroms

  • 期刊论文

  • 发表日期：

    2025年5月9日

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  • Hannah Wörther

摘要

Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive inherited metabolic diseases in which adrenal insufficiency occurs due to a loss of enzyme activity. The most commonly affected enzyme is 21-hydroxylase. In addition to a deficiency of cortisol, this results in an excess of adrenal androgens which is already present prenatally and leads to external virilization in female fetuses. Depending on the residual activity of the enzyme, a clinical distinction is made between classic CAH with salt loss subtype or the simple virilizing subtype and non-classic CAH. Hallmarks of the classical form are ambiguous genitalia in females and the lifelong threat of life-threatening adrenal crisis. Typical symptoms of non-classical form in females are hirsutism, irregular menstrual cycles, subfertility, and acne. Adequate clinical and therapeutic management is therefore crucial for affected patients. In classic CAH, lifelong glucocorticoid substitution and, depending on the subtype, additional mineralocorticoid therapy is necessary. The aim is to sufficiently replace gluco- and mineralocorticoids leading to simultaneous adequate androgen control. This often requires supraphysiological glucocorticoid doses causing increased morbidity and mortality. The challenge here is to find a balance between underreplacement and overtreatment. In the case of non-classical CAH, treatment is indicated when symptoms occur, either by means of low-dose glucocorticoid therapy or antiandrogenic therapy.