title: Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene.
abstract: A boy with adrenal hypoplasia congenita (AHC) and multiple pituitary hormone deficiency (MPHD), without mutations in the DAX1 or SF1 genes, is described. The association of AHC and MPHD has not been previously reported.
authors.affiliation: Institute of Endocrinology and Diabetes, Schneider Children's Medical Center of Israel, 14 Kaplan Street, Petah Tiqva 49202, Israel. shalitin@netvision.net.il
authors.forename: S
authors.initials: S
authors.lastname: Shalitin
authors.forename: Z
authors.initials: Z
authors.lastname: Josefsberg
authors.forename: E
authors.initials: E
authors.lastname: Vilain
authors.forename: R
authors.initials: R
authors.lastname: Shomrat
authors.forename: N
authors.initials: N
authors.lastname: Weintrob
mesh_terms: D000311:Adrenal Glands / Q000002:abnormalities*; D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins / Q000235:genetics*; D051717:Fushi Tarazu Transcription Factors; D018398:Homeodomain Proteins; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010908:Pituitary Hormones, Anterior / Q000172:deficiency*; D018160:Receptors, Cytoplasmic and Nuclear; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D012097:Repressor Proteins; D054339:Steroidogenic Factor 1; D013737:Testis / Q000002:abnormalities; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; D004268:DNA-Binding Proteins; D051717:Fushi Tarazu Transcription Factors; D018398:Homeodomain Proteins; C539965:NR0B1 protein, human; D010908:Pituitary Hormones, Anterior; D018160:Receptors, Cytoplasmic and Nuclear; D018168:Receptors, Retinoic Acid; D012097:Repressor Proteins; D054339:Steroidogenic Factor 1; D014157:Transcription Factors