Background: Nonclassic congenital adrenal hyperplasia (NC-CAH) caused by mutations in CYP21B gene is an inherited disorder with various clinical forms in relation to the 21-hydroxylase (21OH) activity. Classic forms are recognized early during neonatal period as salt-wasting crisis or genital ambiguity, while non-classic form presents later with wide hyperandrogenic spectrum. Genetic testing has proved to be the definitive diagnostic method.
Aim: To observe the clinical presentation in relation to the genotype among subjects with clinical suspect of NC-HAC.
Subjects and methods: Ninety-seven patients (90 female, 7 male) consulting with suggestive clinical data of NC-HAC were genotyped and classified into groups (1: no mutation n=54; 2: homozygotes n=22; 3: compound heterozygotes n=11; 4: simple heterozygotes n=10). Clinical presentation was correlated with the genetic findings.
Results: Mutations in CYP21B were present in 44,3% of patients and V281L in homozygous state was the most frequent genotype in the studied population (48,8%). In general, hirsutism and premature pubarche were the most common symptoms (32,9 and 28,8% respectively).
Conclusions: Less than 50% of hyperandrogenic patients had genetic confirmation of 21OH deficiency. We did not find clinical features associated with the genotype, but precocious pubarche, which is more common in simple and compound heterozygotes than in homozigotes or without mutation (P<0.05).