An adrenal cortical cell rest, an interstitial cell, and a pleuripotent cell have all been suggested as the origin of testicular masses in congenital adrenogenital syndrome. 2 Embryologically the development of the adrenal gland and the genital ridge occurs in close proximity. Adrenal cell rests are therefore known to occur in the spermatic cord, testis, broad ligament, and the ovary. The norma...

An adrenal cortical cell rest, an interstitial cell, and a pleuripotent cell have all been suggested as the origin of testicular masses in congenital adrenogenital syndrome. 2 Embryologically the development of the adrenal gland and the genital ridge occurs in close proximity. Adrenal cell rests are therefore known to occur in the spermatic cord, testis, broad ligament, and the ovary. The norma...

21-hydroxylase deficiency (21-OHD) caused congenital adrenal hyperplasia (CAH) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (CO) synthesis in the adrenal glands. Testicular adrenal rest tumors (TARTs) are rarely the presenting symptoms of CAH. Here, we describe a case of simple virilizing CAH with TARTs, in a 15-year-old boy. The p...

Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenor...

Although cortisone acetate is approved worldwide as corticosteroid substitution therapy in congenital adrenal hyperplasia (21-hydroxylase deficiency), its effectiveness is uncertain since its biologic activity depends on activation by 11β-hydroxysteroid dehydrogenase (11β-HSD). We sought to compare the effect of cortisone acetate with that of hydrocortisone. In 10 patients with congenital adren...

Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a well-known disorder of sexual development (previously known as ambiguous genitalia) in genotypic female neonates. We report on a 66-year-old Chinese, brought up as male, with a simple virilising form of congenital adrenal hyperplasia associated with Turner's syndrome (karyotype 45,X/47,XXX/46,XX). His late presentati...

Congenital adrenal hyperplasia because of 21-hydroxylase deficiency is closely linked to the HLA system. The lod scores in 14 informative families are presented. Apart from linkage, the 21-hydroxylase deficiency is associated with an increase of BW47 antigen and lack of B8 antigen in patients. A family with a possible recombination between the 21-hydroxylase deficiency and the HLA complex was f...

Congenital adrenal hyperplasia (CAH) is the most frequently encountered genetic steroid disorder affecting fertility. Steroid hormones play a crucial role in sexual development and reproductive function; patients with either 21- hydroxylase or 11β-hydroxylase deficiency thus face immense challenges to their fertility. Given the relevance of CAH in reproductive medicine as well as the diagnostic...

The presentation, pattern of acute illness, and incidence of learning difficulties are described in 63 (33 boys, 30 girls) children with salt wasting 21-hydroxylase deficiency, drawn from a cohort study of congenital adrenal hyperplasia in the South West Region of England between 1968 and 1988. Thirty boys presented with a salt losing crisis from birth whereas the other three boys presented bet...

21-hydroxylase deficiency (21-ohd) caused congenital adrenal hyperplasia (cah) is a group of autosomal recessive genetic disorders resulting from mutations in genes involved with cortisol (co) synthesis in the adrenal glands. testicular adrenal rest tumors (tarts) are rarely the presenting symptoms of cah. here, we describe a case of simple virilizing cah with tarts, in a 15-year-old boy. the p...