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Salt-wasting 21-hydroxylase deficiency congenital adrenal hyperplasia and pyloric stenosis in two Hispanic brothers. 2006

Pisit Pitukcheewanont, and Saroj Nimkarn, and Juliana Austin, and Zadok Sack, and Lynda K Fisher
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

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.

UI MeSH Term Description Entries
D006984 Hypertrophy General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA). Hypertrophies
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D011707 Pyloric Stenosis Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants. Pyloric Obstruction,Pylorus Obstruction,Stenosis, Pyloric,Obstruction, Pyloric,Obstruction, Pylorus,Pyloric Obstructions,Pylorus Obstructions
D011708 Pylorus The region of the STOMACH at the junction with the DUODENUM. It is marked by the thickening of circular muscle layers forming the pyloric sphincter to control the opening and closure of the lumen. Pyloric Sphincter,Pyloric Sphincters,Sphincter, Pyloric,Sphincters, Pyloric
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D006630 Hispanic or Latino A person of Cuban, Mexican, Puerto Rican, South or Central American, or other Spanish culture or origin, regardless of race (https://www.federalregister.gov/documents/1997/10/30/97-28653/revisions-to-the-standards-for-the-classification-of-federal-data-on-race-and-ethnicity). In the United States it is used for classification of federal government data on race and ethnicity. Race and ethnicity terms are self-identified social construct and may include terms outdated and offensive in MeSH to assist users who are interested in retrieving comprehensive search results for studies such as in longitudinal studies. Cuban Americans,Hispanic Americans,Latin Americans, US,Latinas,Latinos,Latinx,Puerto Ricans,Spanish Americans,Hispanics,American, Hispanic,American, US Latin,Cuban American,Hispanic American,Hispanic or Latinos,Latin American, US,Latina,Latino,Puerto Rican,Spanish American,US Latin American,US Latin Americans
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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