Recent studies from several groups have indicated that abnormal or ectopic expression and function of adrenal receptors for various hormones may regulate cortisol production in ACTH-independent hypercortisolism. Gastric inhibitory polypeptide (GIP)-dependent Cushing's syndrome has been described in patients with either unilateral adenoma or bilateral macronodular adrenal hyperplasia; this syndr...

A rare type of aldosteronism, known as unilateral adrenal hyperplasia (UAH), is difficult to diagnose, not only because it fails to conform to the typical common subtypes, but also because imaging results are unreliable. We report 2 Taiwanese patients with UAH. Case 1 was a 44-year-old man with 2 episodes of hypokalemic paralysis. Hypertension and suppressed plasma renin activity (PRA) with ele...

Congenital adrenal hyperplasia (CAH), also termed adrenogenital syndrome in older literature, is a common inherited form of adrenal insufficiency. This group of diseases is due to mutations (genetic defects) in the genes coding for several enzymes needed for the production of adrenal cortex hormones. About 95% of cases of CAH are caused by 21-hydroxylase deficiency. This enzyme is necessary for...

Cogenital adrenal hyperplasia (CAH) is a family of genetic disorders from a deleterious mutation in a gene encoding adrenal steroidogenic enzyme essential for cortisol biosynthesis. Recent molecular advances have provided the genetic basis for the phenotypic variability in CAH, a means for accurately genotyping family members of CAH patients including prenatal prediction of the genotype in fetu...

PURPOSE OF REVIEW Late-onset or nonclassic congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Reported prevalence ranges from 1 in 30 to 1 in 1000. Affected individuals typically present due to signs and symptoms of androgen excess. The purpose of this review is to provide current information regarding the pathophysiol...

Abstract Background Measurement of multiple steroids, 17 hydroxyprogesterone, 11 deoxycortisol, and 21 is required to discriminate between congenital adrenal hyperplasia due hydroxylase deficiency that beta deficiency. This work aims at the selection more appropriate, cost-effective method among either mass spectrometry or radioimmunoassay for quantitation previous steroids. In this study, bloo...

We recently implicated two recurrent somatic mutations in an adrenal potassium channel, KCNJ5, as a cause of aldosterone-producing adrenal adenomas (APAs) and one inherited KCNJ5 mutation in a Mendelian form of early severe hypertension with massive adrenal hyperplasia. The mutations identified all altered the channel selectivity filter, producing increased Na(+) conductance and membrane depola...

Hyperparathyroidism represents as a novel feature of primary aldosteronism (PA). Its occurrence in patients with the surgically correctable aldosterone-producing adenoma (APA) and not in those with bilateral adrenal hyperplasia suggested that the measurement of parathyroid hormone could help in differentiating between these subtypes of PA. To test this hypothesis we measured the plasma levels o...

Hyperparathyroidism represents as a novel feature of primary aldosteronism (PA). Its occurrence in patients with the surgically correctable aldosterone-producing adenoma (APA) and not in those with bilateral adrenal hyperplasia suggested that the measurement of parathyroid hormone could help in differentiating between these subtypes of PA. To test this hypothesis we measured the plasma levels o...