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Congenital Adrenal Hyperplasia in Adolescents
Author(s) -
LinSu Karen,
Nimkarn Saroj,
New Maria I.
Publication year - 2008
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1429.021
Subject(s) - congenital adrenal hyperplasia , hirsutism , medicine , proband , androstenedione , endocrinology , acth stimulation test , testosterone (patch) , 21 hydroxylase , exon , mutation , hormone , androgen , gene , adrenocorticotropic hormone , biology , genetics , obesity , insulin resistance , polycystic ovary
Adolescent females who have irregular menstrual periods may have the nonclassical form of congenital adrenal hyperplasia due to a mild deficiency of steroid 21‐hydroxylase (NC 21‐OHD). Hyperandrogenic signs such as acne, frontal hair loss, hirsutism, and irregular menstrual periods should alert the physician to the diagnosis of NC 21‐OHD. An ACTH stimulation test in which serum hormone concentrations of 17‐OHP, Δ 4 ‐androstenedione, and testosterone are determined will assist in the diagnosis of NC 21‐OHD, but the definitive diagnostic test is an analysis of the mutations in the CYP21A2 gene. Typical mutations in the CYP21A2 gene in patients with NC 21‐OHD are an exon 7 or an exon 1 mutation. Once the genotype establishes the diagnosis of NC 21‐OHD, treatment should be initiated. Typical treatment is dexamethasone, 0.25 mg HS, which generally reverses the hyperandrogenic signs.