TO THE EDITOR: We write to encourage policy debate over newborn screening for congenital adrenal hyperplasia (CAH). Classical CAH is a severe, life-threatening disease affecting about one in 15 000 liveborn infants in Australia.1 An inexpensive screening test for newborns is available, but this test is not included in the current newborn screening program in Australia. Three-quarters of childre...

Congenital adrenal hyperplasia (CAH) can affect sex characteristics. The most common cause of CAH is 21-hydroxylase deficiency, and the cornerstone of treatment is glucocorticoid replacement in adrenocorticotropic hormone-suppressive dosages. A 64-year-old patient (46XX) with CAH resulting from 21-hydroxylase deficiency had been treated with dexamethasone and testosterone since diagnosis at age...

OBJECTIVE Treatment with glucocorticoids and mineralocorticoids has changed congenital adrenal hyperplasia (CAH) from a fatal to a chronic lifelong disease. Long-term treatment, in particular the chronic (over-)treatment with glucocorticoids, may have an adverse effect on the cardiovascular risk profile in adult CAH patients. The objective of this study was to evaluate the cardiovascular risk p...

Isolated rat hepatocytes were used to determine the cytotoxicity of peripheral blood mononuclear cells (PBM) from patients with alcoholic liver disease (ALD) and chronic active hepatitis (CAH). The specificity of the cytotoxic effect on liver cells was monitored using rat kidney cells. PBM from patients with CAH and ALD showed increased spontaneous cell-mediated cytolysis (SCMC) for hepatocytes...

CONTEXT Patients with congenital adrenal hyperplasia (CAH) are chronically treated with supraphysiological doses of glucocorticoids, which are known to induce insulin resistance. Thiazolidinediones might reverse this effect and improve insulin sensitivity. OBJECTIVES To assess insulin sensitivity in CAH patients and the effect of pioglitazone treatment on insulin sensitivity in CAH patients. ...

Context Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency (CAH21) is most often diagnosed by newborn screening. The classic parameter studied is 17-hydroxy-progesterone, but the positive predictive value for the diagnosis of CAH is low in full-term newborns and even lower in preterm newborns. Objective To evaluate the diagnostic utility of simultaneously quantifyin...

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 ...

Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroidogenesis characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. A classic form presents with prenatal onset of virilization caused by severe enzyme deficiency and is distinguished from a non-classic form with mild enzyme d...

Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroidogenesis characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. A classic form presents with prenatal onset of virilization caused by severe enzyme deficiency and is distinguished from a non-classic form with mild enzyme d...