Article
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.
The Journal of clinical endocrinology and metabolism - 1 Jul 1998
Dave-Sharma S, Wilson R C, Harbison M D, Newfield R, Azar M R, Krozowski Z S, Funder J W, Shackleton C H, Bradlow H L, Wei J Q, Hertecant J, Moran A, Neiberger R E, Balfe J W, Fattah A, Daneman D, Akkurt H I, De Santis C, New M I
Abstract excerpt
Apparent mineralocorticoid excess (AME) is a genetic disorder causing pre- and postnatal growth failure, juvenile hypertension, hypokalemic metabolic alkalosis, and hyporeninemic hypoaldosteronism due to a deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme activity (11 beta HSD2). T...
Topics
- Adolescent
- Child
- Child, Preschool
- Female
- Genes, Recessive
- Genotype
- Growth Disorders
- Humans
- Hydrocortisone
- Hypertension
- Infant
- Male
- Metabolic Diseases
- Mineralocorticoids