Salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia and pyloric stenosis in two Hispanic brothers.
The differential diagnosis of vomiting and dehydration in the first month of life includes congenital adrenal hyperplasia (CAH) and pyloric stenosis (PS). Each diagnosis may mask the presence of the other, requiring careful evaluation and follow-up. We document the occurrence of CAH and PS in two Hispanic siblings.
Pitukcheewanont
Pisit
P
Center for Endocrinology, Diabetes and Metabolism, Childrens Hospital Los Angeles, Department of Pediatrics, University of Southern California, Keck School of Medicine, Los Angeles, California 90027, USA. dpisit@chla.usc.edu
Nimkarn
Saroj
S
Austin
Juliana
J
Sack
Zadok
Z
Fisher
Lynda K
LK
D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000235:genetics / Q000378:metabolism*; D000483:Alleles; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D006630:Hispanic or Latino; D006801:Humans; D006984:Hypertrophy / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011707:Pyloric Stenosis / Q000150:complications* / Q000235:genetics / Q000378:metabolism*; D011708:Pylorus / Q000473:pathology; D035781:Siblings; D012965:Sodium Chloride / Q000378:metabolism*; D013255:Steroid 21-Hydroxylase / Q000235:genetics / Q000378:metabolism*; D014839:Vomiting / Q000175:diagnosis
D012965:Sodium Chloride; D013255:Steroid 21-Hydroxylase