Your browser doesn't support javascript.
loading
Clinical and molecular review of atypical congenital adrenal hyperplasia
Annals of Pediatric Endocrinology & Metabolism ; : 1-7, 2015.
Article in English | WPRIM | ID: wpr-115870
ABSTRACT
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. It comprises a group of autosomal recessive disorders caused by the mutations in the genes encoding for steroidogenic enzymes that involved cortisol synthesis. More than 90% of cases are caused by a defect in the enzyme 21-hydroxylase. Four other enzyme deficiencies (cholesterol side-chain cleavage, 17alpha-hydroxylase [P450c17], 11beta-hydroxylase [P450c11beta], 3beta-hydroxysteroid dehydrogenase) in the steroid biosynthesis pathway, along with one cholesterol transport protein defect (steroidogenic acute regulatory protein), and one electrontransfer protein (P450 oxidoreductase) account for the remaining cases. The clinical symptoms of the different forms of CAH result from the particular hormones that are deficient and those that are produced in excess. A characteristic feature of CAH is genital ambiguity or disordered sex development, and most variants are associated with glucocorticoid deficiency. However, in the rare forms of CAH other than 21-hydroxylase deficiency so-called "atypical CAH", the clinical and hormonal phenotypes can be more complicated, and are not well recognized. This review will focus on the atypical forms of CAH, including the genetic analyses, and phenotypic correlates.
Subject(s)

Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Disorders of Sex Development / Hydrocortisone / Steroid 21-Hydroxylase / Cholesterol / Adrenal Hyperplasia, Congenital / Rare Diseases / Sexual Development / Genotype Language: English Journal: Annals of Pediatric Endocrinology & Metabolism Year: 2015 Type: Article

Similar

MEDLINE

...
LILACS

LIS

Full text: Available Index: WPRIM (Western Pacific) Main subject: Phenotype / Disorders of Sex Development / Hydrocortisone / Steroid 21-Hydroxylase / Cholesterol / Adrenal Hyperplasia, Congenital / Rare Diseases / Sexual Development / Genotype Language: English Journal: Annals of Pediatric Endocrinology & Metabolism Year: 2015 Type: Article