Presentation and Diagnosis

Beta Switch Program

Beta Switch Program by Sue Heintze

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The symptoms and signs of CAH depend on the degree of enzyme deficiency. For 21-hydroxylase deficiency, this results in a broad clinical picture: complete 21-hydrox-ylase deficiency leads to cortisol and aldosterone absence and salt-wasting crisis in the newborn period. The androgen excess results in prenatal virilization of the external genitalia in women (classic salt-wasting form). Less severe 21-hydroxylase deficiency results in milder cortisol deficiency and milder prenatal androgen excess, with prenatal virilization in women, but no aldosterone deficiency (classic simple virilizing form). Patients with the mildest forms present with symptoms caused by androgen excess only: pseudo precocious puberty, hirsutism, menstrual irregularities and infertility, all of which are most readily detected in women (nonclassic form) (1).

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