Partial glucocorticoid resistance in the pathophysiology of adrenal cortex hyperplasia

Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE)

CONTEXT Quality of life (QoL) has been variously reported as normal or impaired in adults with congenital adrenal hyperplasia (CAH). To explore the reasons for this discrepancy we investigated the relationship between QoL, glucocorticoid treatment and other health outcomes in CAH adults. METHODS Cross-sectional analysis of 151 adults with 21-hydroxylase deficiency aged 18-69 years in whom QoL...

Glucocorticoid Deficiency Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.

CONTEXT Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia and/or overwhelming infection. Mutations of the ACTH receptor (MC2R) and the melanocortin 2 receptor accessory protein (MRAP), FGD types 1...

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child

Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction. In this article, we report a case of CAH and Schmid metaphyseal dysplasia. Our literature review indicated that this report is the first attempt on CYP11B1 a...

Dexamethasone Therapy of Congenital Adrenal Hyperplasia and the Myth of the “Growth Toxic” Glucocorticoid

The use of long-acting glucocorticoids in the treatment of individuals with Congenital Adrenal Hyperplasia (CAH) has been greeted with controversy. Avoidance of dexamethasone therapy is in part due to the mistaken assumptions that dexamethasone is 30-fold more potent than hydrocortisone in suppressing adrenal activity, resulting in the overtreatment and the "growth toxic" label. However, as sho...