PMID: 16641859Apr 28, 2006Paper

Non-classical congenital adrenal hyperplasia

Pediatric Endocrinology Reviews : PER
Catherine Dacou-Voutetakis, Maria Dracopoulou

Abstract

Deficiency of 21-hydroxylase constitutes the most frequent form of Congenital adrenal hyperplasia (CAH) and is classified into classical and nonclassical (NC) forms. The type of the molecular defect determines the severity of the phenotype with a high degree of concordance for the classical genotypes but with lower concordance for the NC genotypes. The clinical expression of NC-CAH is quite variable ranging from an asymptomatic state to premature pubarche, hirsutism, acne, menstrual irregularities, infertility and increased rate of spontaneous abortions. Basal and/or ACTH stimulated 17-hydroxyprogesterone (17OHP) values, > 5 ng/ml and >10 ng/ml, respectively are currently applied to diagnose NC-CAH. Glucocorticoid administration to patients with NC-CAH is determined by the clinical manifestations. During pregnancy, steroid replacement therapy and adequate monitoring reduce the risk of spontaneous abortions. CYP21A2 genotyping of the partner of a prospective mother with NC-CAH is controversial. Most likely it should be performed if the mother carries a classical mutation.

References

Dec 1, 1978·The Journal of Clinical Endocrinology and Metabolism·R T KirklandG W Clayton
Dec 1, 1990·The Journal of Pediatrics·B L LinderF Cassorla
Mar 1, 1990·Archives of Disease in Childhood·M C Young, I A Hughes
Nov 1, 1989·Archives of Disease in Childhood·M C YoungI A Hughes
Jul 1, 1974·The Journal of Pediatrics·C G BrookG Mürset
Nov 26, 1997·Archives of Disease in Childhood·I N SilvaM B Viana
Nov 26, 1998·Journal of Pediatric Endocrinology & Metabolism : JPEM·L A LopesP C Sizonenko
Feb 28, 2003·Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association·C ScaroniD Armanini
Aug 14, 2003·The Journal of Clinical Endocrinology and Metabolism·Nike M M L StikkelbroeckMartin A Van't Hof
Aug 22, 2003·The New England Journal of Medicine·Phyllis W Speiser, Perrin C White
Oct 30, 2003·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Howard Y LiLewis S Blevins

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Citations

Jul 24, 2010·International Journal of Pediatric Endocrinology·Karen J LoechnerAli S Calikoglu
Aug 3, 2014·Clinical Biochemistry·Ronda F GreavesMargaret R Zacharin

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