Steroid 3-beta hydroxysteroid dehydrogenase type II (3β-HSD2) deficiency is a rare autosomal recessive form of congenital adrenal hyperplasia (CAH). We report the genetic basis of 3β-HSD2 deficiency arising from uniparental isodisomy (UPD) of chromosome 1. We describe a term undervirilized male whose newborn screen indicated borderline CAH. The patient presented on the 7th day of life in salt-w...

BACKGROUND Results in neonatal screening programs aiming at detection of congenital adrenal hyperplasia (CAH) can only report elevated levels of 17-hydroxy-progesterone (17-OHP), without being able to differentiate presence or absence of salt loss. AIM To predict presence or absence of salt loss in newborn infants with CAH. METHODS The first specimen of suspected CAH in samples sent from Pe...

CYP21A2 mutation is the major cause of Congenital Adrenal Hyperplasia (CAH) resulted from the defect in 21-hydroxylase. In this study, we reported a patient of CAH with an unusual mutation of CYP21A2 gene. This patient was a six-year-old girl admitted to Huai’an First People’s Hospital for surgery because of malformation of external genitalia. DNA sequence analysis of CYP21A2 revealed the compo...

CONTEXT In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking. OBJECTIVE The objective of the study was to test whether the severity of disease-causing CYP21A2 mutations influences the treatment and health status in adults with CAH. RESEARCH DESIGN AND METHODS We anal...

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...

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...

Ovarian cysts (OCs) have been described in patients with congenital adrenal hyperplasia (CAH), however, neonatal OCs are rare in CAH. We report a unique neonate with 21-hydroxylase deficiency (21OHD), having functional OCs which developed after the start of treatment for CAH. The patient was referred for clitoromegaly at age of 5 days. Because of elevated ACTH, 277 pg/ml; 17-alphahydroxyprogest...

Atherden, S. M., Edmunds, A. T., and Grant, D. B. (1974). Archives of Disease in Childhood, 49, 192. Plasma 17-hydroxyprogesterone in newborn infants with congenital adrenal hyperplasia and in infants with normal adrenal function. Plasma 17-hydroxyprogesterone (17-OHP) was estimated in 9 infants aged 6 to 12 days with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Raised...

Background: Congenital adrenal hyperplasia (CAH) can lead to bilateral tumors. Excess adrenocorticotropic hormone is thought play a role in the development of nodules. Here we present patient with simple virilizing form 21-hydroxylase deficiency, married man, tumors, and 46-XX chromosomes.Case report: 39-year-old man suffered from abdominal pain tension. Abdominal tomography showed macronodular...