Presentation and Diagnosis

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).

100 Pregnancy Tips

100 Pregnancy Tips

Prior to planning pregnancy, you should learn more about the things involved in getting pregnant. It involves carrying a baby inside you for nine months, caring for a child for a number of years, and many more. Consider these things, so that you can properly assess if you are ready for pregnancy. Get all these very important tips about pregnancy that you need to know.

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