Congenital hypoaldosteronism.
Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.
Sethupathi
Vanathi
V
Department of Pediatrics, Kanchi Kamakoti CHILDS Trust Hospital, Chennai 600 034, India.
Vijayakumar
M
M
Janakiraman
Lalitha
L
Nammalwar
B R
BR
D000893:Anti-Inflammatory Agents / Q000627:therapeutic use; D005260:Female; D005438:Fludrocortisone / Q000627:therapeutic use; D006801:Humans; D006994:Hypoaldosteronism / Q000151:congenital* / Q000175:diagnosis* / Q000188:drug therapy; D007223:Infant
D000893:Anti-Inflammatory Agents; D005438:Fludrocortisone