title: [Primary hypoaldosteronism and moderate bilateral deafness in a child with a homozygous missense mutation (Thr318Met) in the CYP11B2 gene].
abstract: Isolated congenital hypoaldosteronism is a rare disorder that presents as chronic salt-wasting syndrome during infancy. Aldosterone synthase deficiency due to mutations in CYP11B2 is the underlying cause in most cases. Apart from the classical electrolyte disturbances (hyponatremia and hyperkalemia), no other extra-adrenal features have been described to date. We report a male child with congenital hypoaldosteronism due to a homozygous missense mutation (Thr318Met) in CYP11B2 who also presented with unexplained sensorineural hearing loss.
authors.affiliation: Hospital Infantil Universitario Niño Jesús, Madrid, España.
authors.forename: O
authors.initials: O
authors.lastname: Rubio-Cabezas
authors.forename: L
authors.initials: L
authors.lastname: Regueras
authors.forename: M T
authors.initials: MT
authors.lastname: Muñoz-Calvo
authors.forename: M
authors.initials: M
authors.lastname: Bartolomé
authors.forename: J
authors.initials: J
authors.lastname: Pozo
authors.forename: J
authors.initials: J
authors.lastname: Argente
mesh_terms: D019405:Cytochrome P-450 CYP11B2 / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D006801:Humans; D006994:Hypoaldosteronism / Q000235:genetics*; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D012720:Severity of Illness Index
chemical_list: D019405:Cytochrome P-450 CYP11B2