pseudohypoaldosteronism/progesterone

A 15-day- old male infant presented with features suggestive of congenital adrenal hyperplasia (CAH). But on detailed investigation, he had normal 17-OH Progesterone and high aldosterone levels. Infant also had right sided hydronephrosis and associated urinary tract infection. Hence, a diagnosis of

At the age of 3 weeks, a girl presenting with acute dehydration was admitted to our hospital. Clinical and laboratory findings revealed malformations of the genitourinary tract, an acute urinary infection and electrolyte disturbances (severe hyponatremia at 115 mmol/l and mild hyperkalemia at 5.6

Shortly after birth, a 1,860-g premature male newborn with respiratory distress syndrome had brisk diuresis, rapid weight loss, and severe hyponatremia despite aggressive Na+ and fluid replacement. The serum cortisol level was normal, and the 17-OH progesterone concentration was low. He did not show

Salt-losing crisis with hypoglycaemia and shock are the main manifestations of congenital adrenal hyperplasia (CAH) during the first weeks of life, while hyponatremia and hyperpotassemia alone are seen on mineralocorticoid deficiency or resistance. During the neonatal period, high blood levels of

Aldosterone has crucial role for sodium conservation in the kidney, salivary glands, sweat glands and colon. It exerts its effects via the mineralocorticoid receptor (MR) which belongs to the member of the nuclear receptor superfamily. Recently, genetic disorders have been reported to be caused by

Advances in molecular research techniques have enabled a new frontier in discerning the mechanisms responsible for monogenic diseases. In this review, we discuss the current research on the molecular pathways governing blood pressure disorders with a Mendelian inheritance pattern, each presenting