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...

– It is difficult to calculate how many deaths could have been prevented by newborn screening for CAH unless there is a 100% autopsy rate for infant deaths. Due to the sudden onset of adrenal crisis, generally within the first 2 weeks of life, and various obstacles to obtaining a rapid diagnosis, undetected CAH-affected children who die are often classified as having died for some reason unrela...

OBJECTIVE To compare the incidence of diagnosis and morbidity in newborns who were screened with newborns who were not screened for congenital adrenal hyperplasia (CAH). DESIGN A retrospective cohort study. SETTING Arkansas, Oklahoma, and Texas. PATIENTS An unscreened population in Arkansas and Oklahoma (n = 400118) was compared with a screened population in Texas (n = 1613378) during a 5...

BACKGROUND/AIMS Congenital adrenal hyperplasia (CAH) is increasingly being included in newborn screening programs. Screening can prevent neonatal mortality in children with salt-wasting CAH, but the number of deaths prevented is not known. Cost-effectiveness analyses of screening require estimates of the probability of mortality in CAH. METHODS We reviewed the literature to identify cohort st...

Endotoxin (LPS) and cytokines increase cholesterol synthesis and the secretion of lipoproteins by the liver in rodents resulting in hypercholesterolemia. Cholesterol 7 alpha-hydroxylase (CAH) is the rate-limiting enzyme in the conversion of cholesterol to bile acids in the liver, the major regulated pathway by which cholesterol is eliminated from the body. Decreases in CAH would increase the qu...

Over the last two decades, we have extensively studied the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA analyses of the CYP21A2 gene on members of 4,857 families at risk for CAH--the largest cohort of CAH patients reported to date. Of the families studied, 1,507 had at least one member affected with one of three known forms of...

BACKGROUND Low pregnancy rate has been reported in women with congenital adrenal hyperplasia (CAH) and little information on pregnancy and children is known. METHODS In a Swedish study, 62 adult women with CAH, aged 18-63 years, and 62 age-matched controls were followed-up. Medical records, including those concerning pregnancies and deliveries, were examined and the 21-hydroxylase genotype of...

OBJECTIVE To understand the independent and interactive effects of childhood abuse history (CAH) and domestic violence (DV) on the mental health status of women in Japan. METHODS A self-administered questionnaire survey was conducted among a sample of 340 women staying in 83 Mother-Child Homes in Japan to assess the women's CAH and DV experiences, along with their current mental health proble...

We assessed core gender identity, sexual orientation, and recalled childhood gender role behavior in 16 women and 9 men with CAH and in 15 unaffected female and 10 unaffected male relatives, all between the ages of 18 and 44 years. Women with congenital adrenal hyperplasia (CAH) recalled significantly more male-typical play behavior as children than did unaffected women, whereas men with and wi...