Abstract
Congenital adrenal hyperplasia associated with deficiency of steroid 21-hydroxylase is the most common inborn error in adrenal function and the most common cause of adrenal insufficiency in the pediatric age group. As patients now survive into adulthood, adult health-care providers must also be familiar with this condition. Over the past several years, F1000 has published numerous commentaries updating research and practical guidelines for this condition. The purposes of this review are to summarize basic information defining congenital adrenal hyperplasia and to highlight current knowledge and controversies in management.
Highlights
In most patients with classic congenital adrenal hyperplasia (CAH), both cortisol and aldosterone production are impaired while adrenal androgen production is excessive
As a result of the lack of the vital hormones cortisol and aldosterone, patients are susceptible to potentially lethal adrenal insufficiency if untreated
Summary The issues to be resolved in coming years will be reduction of fetal and neonatal morbidities and mortality associated with CAH by improved diagnostic methods as discussed above
Summary
In most patients with classic congenital adrenal hyperplasia (CAH), both cortisol and aldosterone production are impaired while adrenal androgen production is excessive. Men with CAH may have reproductive and endocrine problems, most notably testicular adrenal rest tumors and oligospermia In this context, I will present data and arguments supporting the need for informed treatment of patients across the life span and across primary and specialty care practices. Whereas in the past chorionic sampling was performed at about 10 weeks’ gestation, the novel approach of extracting fetal DNA from the maternal circulation at as early as 5 to 6 weeks holds promise for earlier anticipatory guidance[7] Another reproductive option for couples at risk for this and other well-characterized monogenic disorders is preimplantation genetic screening to avoid producing a second affected child, this procedure is considered by some to be eugenic and is quite expensive and still not widely available[8]. Competing interests The author declares that she has no competing interests
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