title: Correlation between genotype and hormonal levels in heterozygous mutation carriers and non-carriers of 21-hydroxylase deficiency.
abstract: Congenital adrenal hyperplasia, both in its classic (CCAH) and non-classic form (NCAH), is a morbid condition sustained by the absent or reduced function of one of the enzymes involved in cortisol biosynthesis - mainly 21 hydroxylase - associated with different levels of clinical androgenization. In a wide group of relatives of patients affected by CCAH and NCAH (no.=222) and healthy volunteers (no.=30), a clinical, hormonal and genetic evaluation was performed in order to differentiate between the condition of heterozygous mutation carrier and non-carrier of any among 21-hydroxylase gene (CYP21) mutations. This study shows that clinical presentation and basal 17α-hydroxyprogesterone (17α-OHP) are not able to differentiate between heterozygous carriers and non-carriers, whereas 17α-OHP value after ACTH bolus is significantly different between heterozygous carriers and non-carriers: p<0.001 with a cut-off value of 3 ng/ml (90% sensitivity and 74,3% specificity). Moreover, our data indicate that 17α-OHP response to ACTH may be a useful tool to select subjects for genetic analysis.
authors.affiliation: Division of Endocrinology, Diabetology and Metabolism, Department of Internal Medicine, University of Turin, Turin, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Napolitano
authors.forename: C
authors.initials: C
authors.lastname: Manieri
authors.forename: F
authors.initials: F
authors.lastname: Restivo
authors.forename: E
authors.initials: E
authors.lastname: Composto
authors.forename: F
authors.initials: F
authors.lastname: Lanfranco
authors.forename: M
authors.initials: M
authors.lastname: Repici
authors.forename: B
authors.initials: B
authors.lastname: Pasini
authors.forename: S
authors.initials: S
authors.lastname: Einaudi
authors.forename: E
authors.initials: E
authors.lastname: Menegatti
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood*; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood* / Q000235:genetics* / Q000503:physiopathology; D000324:Adrenocorticotropic Hormone / Q000008:administration & dosage; D002353:Carrier State; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D012680:Sensitivity and Specificity; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D013255:Steroid 21-Hydroxylase