Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: effect of hyperandrogenism in female proportion and composition

Abstract

The classic form of Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency (CAH-21OHD) results in decreased synthesis of glucocorticoids and androgens excess, associated or not with mineralocorticoids insufficiency. The treatment consists on the physiologic reposition of gluco with or without mineralocorticoids. The final height depends on interaction between a precise corticoid dose and an effective block in androgen synthesis, and clinical and laboratorial follow-up of these patients is very difficult. The main aim of this study is to verify in CAH-21OHD females the effect of the hyperandrogenism in body proportion and composition. Our sample will comprise girls with clinical, hormonal and molecular diagnosis of CAH-21OHD (case group) above 2 years of age, which have been followed for at least 2 years in UNICAMP Outpatient Clinic of Pediatric Endocrinology. The control group will comprise children and adolescents of both genders, also above 2 years of age, without any illness that affect growth and/or puberty. It will be a transversal study with measures of stature, weight, body mass index, seated stature, head perimeter, arm spam, biacromial and bi-iliac diameters, leg length, waist, hip, hand and foot. Body composition will be evaluated by anthropometric measures as brachial perimeter, triceps skinfold, calculations of fat and lean areas of the arm according to Cameron (1978) and by bioelectric impedance (BIA - 101-Q - RJL Systems - U.S.A.). The case group will be divided in 2 sub-groups according to hormonal control. The patients will be considered well controlled if they present normal values (for age, sex and pubertal development) of 50% or more of the serum levels of androstenedione, 17-OH-progesterone and rennin. These 2 sub-groups will be subdivided according to clinical form of the illness in simple virilizing and salt wasting. The data will be analyzed by the non-parametric test of Mann-Whitney comparing the groups of cases between themselves and in relation with controls as female and male sex, paired by chronological and bone ages. The results will be considered significant for p < 5%. (AU)