Selma Feldman Witchel1. 1. Division of Pediatric Endocrinology, Childrens Hospital of Pittsburgh of UPMC, Pittsburgh, Pennsylvania 15224, USA. selma.witchel@chp.edu
Abstract
PURPOSE OF REVIEW: Late-onset or nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. The purpose of this review is to provide current information regarding the pathophysiology, molecular genetics, and management of this common disorder. RECENT FINDINGS: Subfertility and the consequences of elevated progesterone concentrations have been increasingly documented for women with NCAH. Although testicular adrenal rest tumors (TARTs) are more common in men with classical congenital adrenal hyperplasia, oligospermia and TARTs have been described in men with NCAH. The phenotypic spectrum of defects in other components of the steroidogenic pathway such as P450 oxidoreductase and steroidogenic acute regulatory protein has been expanded to include milder forms. SUMMARY: Treatment needs to be directed toward the symptoms. Goals of treatment include normal linear growth velocity, normal rate of skeletal maturation, 'on-time' puberty, regular menstrual cycles, prevention of or limited progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.
PURPOSE OF REVIEW: Late-onset or nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. The purpose of this review is to provide current information regarding the pathophysiology, molecular genetics, and management of this common disorder. RECENT FINDINGS: Subfertility and the consequences of elevated progesterone concentrations have been increasingly documented for women with NCAH. Although testicular adrenal rest tumors (TARTs) are more common in men with classical congenital adrenal hyperplasia, oligospermia and TARTs have been described in men with NCAH. The phenotypic spectrum of defects in other components of the steroidogenic pathway such as P450 oxidoreductase and steroidogenic acute regulatory protein has been expanded to include milder forms. SUMMARY: Treatment needs to be directed toward the symptoms. Goals of treatment include normal linear growth velocity, normal rate of skeletal maturation, 'on-time' puberty, regular menstrual cycles, prevention of or limited progression of hirsutism and acne, and fertility. Treatment needs to be individualized and should not be initiated merely to decrease abnormally elevated hormone concentrations.
Authors: Mimi S Kim; Fariba Goodarzian; Madison F Keenan; Mitchell E Geffner; Christina M Koppin; Roger E De Filippo; Paul J Kokorowski Journal: J Urol Date: 2016-11-10 Impact factor: 7.450