Aldosterone synthase deficiency type I: hormonal and genetic analyses of two cases.
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.
López-Siguero
J P
JP
Pediatric Endocrinology, Hospital Materno-Infantil, Málaga, Spain. jpls@arrakis.es
García-García
E
E
Peter
M
M
Sippell
W G
WG
D019405:Cytochrome P-450 CYP11B2 / Q000172:deficiency* / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D007527:Isoenzymes / Q000172:deficiency / Q000235:genetics; D008901:Mineralocorticoids / Q000172:deficiency; D009154:Mutation; D009693:Nucleic Acid Hybridization; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction
D007527:Isoenzymes; D008901:Mineralocorticoids; D015345:Oligonucleotide Probes; D019405:Cytochrome P-450 CYP11B2