Aldosterone synthase deficiency type I: hormonal and genetic analyses of two cases
Related Experiment Video
Updated: Oct 13, 2026

A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
J P López-Siguero1, E García-García, M Peter
1Pediatric Endocrinology, Hospital Materno-Infantil, Málaga, Spain. jpls@arrakis.es
Abstract:
Two female infants with clinical and biochemical findings of mineralocorticoid deficiency are presented. Both cases were diagnosed with aldosterone synthase type-I deficiency by multisteroid analysis. Two different mutations were located in the CYP11B2 gene: two homozygous amino acid substitutions (E188D and V386A) in case 1, and one heterozygous substitution (L324Q) and one heterozygous stop mutation (Y265X) in case 2.
Related Concept Videos
Adrenal Gland Disorders
Adrenal insufficiency, characterized by insufficient cortisol and aldosterone production, leads to conditions like Addison's disease. This disorder, affecting the adrenal cortex, exhibits symptoms such as skin bronzing, dehydration, low blood pressure, fatigue, and weight loss. Congenital adrenal hyperplasia, a genetic ailment causing...
Antihypertensive Drugs: Potassium-Sparing Diuretics
Renal Tubule and Collecting Duct
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
ATP Synthase: Structure
Hormonal Regulation
ATP Synthase: Mechanism

