background: congenital adrenal hyperplasia (cah) and vanishing testes are uncommon diseases that can result from hormonal and mechanical factors. classic cah is determined by ambiguous genitalia and increase in amount of 17-hydroxyprogesterone. simultaneous occurrence of cah and vanishing testes is a rare condition. case: a 22-year-old boy, known case of cah who was diagnosed as female pseudohe...

background: congenital adrenal hyperplasia (cah, the inherited inability to synthesize cortisol) is one of the most common (1 in 10000 to 1 in 15000) autosomal recessive disorders. more than 95% of cases of cah are caused by 21-hydroxylase deficiency (21-ohd). females with severe, classic 21-ohd are exposed to excess androgens prenatally and are born with virilized external genitalia. most pati...

introduction nonclassical congenital adrenal hyperplasia (cah) is characterized by sufficient cortisol and aldosterone production at the cost of androgen overproduction. hydrocortisone or dexamethasone in supraphysiological doses are current treatment; however, their downside is suppression of endogenous cortisol production resulting in corticosteroid dependency. we aimed to treat children with...

in this study the clinical and epidemiological characteristics of congenital adrenal hyperplasia were evaluated prospectively in 47 patients admitted in imam reza hospital in mashhad during a 4 year period. 21-hydroxylase deficiency was present in 42 patients (89.3%), the simple virilizing form in 6 and the salt-losing form in 36 of them. 11b hydroxylase deficiency was present in 5 patients (10...

results out of 617 patients, 79.6% had 21-hydroxylase deficiency (21-ohd). in 21-ohd group 94.5% had classical type and 5.5% were non-classic. among the classic type 78% had salt-wasting form (sw) and 22% simple virilizing (sv). both 21-ohd-sv and sw were diagnosed more frequently in females. frequency of other types were as follow: 11-hydroxylase deficiency (11-ohd), 13.3%; 3ß-hydroxysteroid d...

Congenital adrenal hyperplasia was once considered a rare inherited disorder with severe manifestations. Mild congenital adrenal hyperplasia, however, is common, affecting one in 100 to 1,000 persons in the United States and frequently eluding diagnosis. Both classic and nonclassic forms of the disease are caused by deficiencies in the adrenal enzymes that are used to synthesize glucocorticoids...

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...

Highlight: The diagnosis and therapy of Congenital Adrenal Hyperplasia (CAH) children with crisis (AC) case report. is a life-threatening emergency that contributes to the high death rate adrenal insufficiency. early detection prompt treatment can improve outcomes patients CAH AC. Abstract: acute complication patient congenital hyperplasia. hyperplasia rare condition. Children commonly come roo...

lipoid congenital adrenal hyperplasia (lipoid cah), a rare disorder of steroid biosynthesis, is the most severe form of cah. in this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. in this report, we presented a ...