Ann Pediatr Endocrinol Metab.  2016 Mar;21(1):1-6. 10.6065/apem.2016.21.1.1.

Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Affiliations
  • 1Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. jhc@amc.seoul.kr
  • 2Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately 95% of all CAH cases are caused by 21-hydroxylase deficiency encoded by the CYP21A2 gene. The disorder is categorized into classical forms, including the salt-wasting and the simple virilizing types, and nonclassical forms based on the severity of the disease. The severity of the clinical features varies according to the level of residual 21-hydroxylase activity. Newborn screening for CAH is performed in many countries to prevent salt-wasting crises in the neonatal period, to prevent male sex assignment in affected females, and to reduce long-term morbidities, such as short stature, gender confusion, and psychosexual disturbances. 17α-hydroxyprogesterone is a marker for 21-hydroxylase deficiency and is measured using a radioimmunoassay, an enzyme-linked immunosorbent assay, or a fluoroimmunoassay. Recently, liquid chromatography linked with tandem mass spectrometry was developed for rapid, highly specific, and sensitive analysis of multiple analytes. Urinary steroid analysis by gas chromatography mass spectrometry also provides qualitative and quantitative data on the excretion of steroid hormone metabolites. Molecular analysis of CYP21A2 is useful for genetic counseling, confirming diagnosis, and predicting prognoses. In conclusion, early detection using neonatal screening tests and treatment can prevent the worst outcomes of 21-hydroxylase deficiency.

Keyword

Congenital adrenal hyperplasia; CYP21A2; 21-Hydroxylase deficiency

MeSH Terms

Adrenal Glands
Adrenal Hyperplasia, Congenital*
Aldosterone
Cholesterol
Chromatography, Liquid
Diagnosis
Enzyme-Linked Immunosorbent Assay
Female
Fluoroimmunoassay
Gas Chromatography-Mass Spectrometry
Genetic Counseling
Humans
Hydrocortisone
Infant, Newborn
Male
Mass Screening
Neonatal Screening
Prognosis
Radioimmunoassay
Steroid 21-Hydroxylase*
Tandem Mass Spectrometry
Aldosterone
Cholesterol
Hydrocortisone
Steroid 21-Hydroxylase
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