Transient congenital hypoparathyroidism and 22q11 deletion.
CATCH-22 syndrome represents a spectrum of abnormalities associated with microdeletions of chromosome 22q11. We report a patient with transient congenital hypoparathyroidism, with severe neonatal hypocalcemia and spontaneous resolution in infancy, tetralogy of Fallot and thymic hypoplasia. Genetic confirmation of chromosome 22q11 deletion was made. Newborns with congenital hypoparathyroidism need genetic analysis and examination for anomalies associated with CATCH-22 syndrome.
García-García
E
E
Pediatric Endocrinology Unit, Hospital Carlos Haya, Málaga, Spain. EMIGAGA@santandersupernet.com
Camacho-Alonso
J
J
Gómez-Rodríguez
M J
MJ
del Castillo
E
E
Martínez-Aedo
López-Siguero
J P
JP
D018791:CD4 Lymphocyte Count; D002117:Calcitriol / Q000008:administration & dosage; D002118:Calcium / Q000008:administration & dosage; D002892:Chromosomes, Human, Pair 22; D005260:Female; D017353:Gene Deletion; D006801:Humans; D006961:Hyperparathyroidism / Q000151:congenital* / Q000235:genetics*; D006996:Hypocalcemia / Q000235:genetics; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000000981:diagnostic imaging / Q000235:genetics; D013950:Thymus Gland / Q000000981:diagnostic imaging / Q000473:pathology; D014463:Ultrasonography
D002117:Calcitriol; D002118:Calcium