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Because of the impaired cortisol secretion, adrenocorticotropic hormone levels rise due to impairment of a negative feedback system, which results in hyperplasia of the adrenal cortex. The majority of cases is due to 21-hydroxylase deficiency (21-OHD). Owing to the blocked enzymatic step, cortisol precursors accumulate in excess and are converted to potent androgens, which are secreted and cause\n                    <jats:italic>in utero<\/jats:italic>\n                    virilization of the affected female fetus genitalia in the classical form of CAH. A mild form of the 21-OHD, termed nonclassical 21-OHD, is the most common autosomal recessive disorder in humans, and occurs in 1\/27 Ashkenazic Jews. Mutations in the\n                    <jats:italic>CYP21<\/jats:italic>\n                    gene have been identified that cause both classical and nonclassical CAH. Apparent mineralocorticoid excess is a potentially fatal genetic disorder causing severe juvenile hypertension, pre- and postnatal growth failure, and low to undetectable levels of potassium, renin, and aldosterone. It is caused by autosomal recessive mutations in the\n                    <jats:italic>HSD11B2<\/jats:italic>\n                    gene, which result in a deficiency of 11\u03b2-hydroxysteroid dehydrogenase type 2. In 1998, we reported a mild form of this disease, which may represent an important cause of low-renin hypertension.\n                  <\/jats:p>","DOI":"10.1073\/pnas.96.22.12790","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:32:33Z","timestamp":1027679553000},"page":"12790-12797","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":125,"title":["Steroid disorders in children: Congenital adrenal hyperplasia and apparent mineralocorticoid excess"],"prefix":"10.1073","volume":"96","author":[{"given":"Maria I.","family":"New","sequence":"first","affiliation":[{"name":"Pediatric Endocrinology, New York Presbyterian Hospital and the Weill Medical College of Cornell University, 525 East 68th Street, New York, NY 10021"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert C.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Pediatric Endocrinology, New York 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