Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in steroid biosynthesis. In about 90% patients, CAH caused by pathogenetic variants CYP21A2 gene, impairing the function 21-hydroxylase (21-OH) enzyme. can present as classical form (simple virilizing or salt wasting) non-classical (NC-CAH). NC-CAH gene that result 20–70% residual activ...

Patients with congenital adrenal hyperplasia arising from mutations of 11beta-hydroxylase, the final enzyme in the glucocorticoid biosynthetic pathway, exhibit glucocorticoid deficiency, adrenal hyperplasia driven by unsuppressed hypothalamo-pituitary-adrenal activity, and excess mineralocorticoid activity caused by the accumulation of deoxycorticosterone. A mouse model, in which exons 3-7 of C...

Introduction: Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders, which are due to defects in single enzymes involved in adrenal steroidogenesis. The biochemical and clinical phenotype depends on the specific enzymatic defect. In 21hydroxylase and 11β-hydroxylase deficiency only adrenal steroidogenesis is affected, whereas a defect in 3β-hydroxysteroid dehyd...

Neonatal screening for congenital adrenal hyperplasia: experience and results in Argentina. J Pediatr Endocrinol Metab 2008;21:73–8. 19. Cordova RA, Vignola G. Screening and diagnosis of congenital adrenal hyperplasia in Basilicata (Italy). Southeast Asian J Trop Med Pub Health 1999;30: 103–6. 20. Valentino R, Tommaselli AP, Rossi R, et al. A pilot study for neonatal screening of congenital adr...

Non-classical congenital adrenal hyperplasia by 21 hydroxylase deficiency is an autosomal recessive disease whose usual presentation a late virilization. In some African countries like Morocco, there are cultural barriers to gynecological examination in girls, women consult until for sexual problem as the case of our patient who consulted clitoris hypertrophy at age 22 years and hormonal assess...

in this study the data on 115 cases of congenital adrenal hyperplasia (cah) who were followed in the pediatric endocrine clinic at nemazee hospital, shiraz will be reported. among these cases 51 were male and 64 female. the most common type of cah in these patients was the salt-losing type of 21 -hydroxylase deficiency (85 .2%). ll-hydroxylase deficiency was present in 13.04% of patients. there...

Congenital adrenal hyperplasia (CAH) with 17α-hydroxylase/17,20-lyase deficiency is usually characterized by hypertension and primary amenorrhea, sexual infantilism in women, and pseudohermaphroditism in men. hypertension, and sexual infantilism in women and pseudohermaphroditism in men. In rare cases, a huge adrenal gland tumor can present as a clinical manifestation in untreated CAH. Adrenal ...

precocious pubarche (pp) is most often a benign condition secondary to the early appearance of adrenarche. however, pp may be a manifestation of mild errors of steroidogenesis in particular non classic 21 hydroxylase deficiency (nc210hd). the incidence of nc210hd in patients with pp ranges from about 0-30% of cases in various reports. controversy exists as to whether all children with pp should...

Barnes, N. D., and Atherden, S. M. (1972). Archives of Disease in Childhood, 47, 62. Diagnosis of congenital adrenal hyperplasia by measurement of plasma 17-hydroxyprogesterone. Measurement of plasma 17-hydroxyprogesterone by a simple competitive protein-binding assay has proved of value in the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Children with untreated...

Abstract Background Measurement of multiple steroids, 17 hydroxyprogesterone, 11 deoxycortisol, and 21 is required to discriminate between congenital adrenal hyperplasia due hydroxylase deficiency that beta deficiency. This work aims at the selection more appropriate, cost-effective method among either mass spectrometry or radioimmunoassay for quantitation previous steroids. In this study, bloo...