title: Congenital multiple pituitary hormone deficiency associated with hyperammonemia: a case report with a short review of the literature.
abstract: We herein report a case study of a female newborn with multiple pituitary hormone deficiencies who presented with generalized seizures, hypoglycemia and hyperammonemia at 18 h after birth. In addition, we review the association of hyperammonemia in neonates with multiple pituitary hormone deficiencies reported in the previous literature. This unrecognized association should be taken into account for the early diagnosis and treatment of these patients.
authors.affiliation: Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan. hinoue@pediatr.med.kyushu-u.ac.jp
authors.forename: H
authors.initials: H
authors.lastname: Inoue
authors.forename: K
authors.initials: K
authors.lastname: Ihara
authors.forename: M
authors.initials: M
authors.lastname: Ochiai
authors.forename: Y
authors.initials: Y
authors.lastname: Takahata
authors.forename: H
authors.initials: H
authors.lastname: Kohno
authors.forename: T
authors.initials: T
authors.lastname: Hara
mesh_terms: D004334:Drug Administration Schedule; D016903:Drug Monitoring; D005260:Female; D020249:Hormone Replacement Therapy; D006801:Humans; D006854:Hydrocortisone / Q000008:administration & dosage* / Q000172:deficiency; D022124:Hyperammonemia / Q000209:etiology*; D007003:Hypoglycemia / Q000209:etiology; D007018:Hypopituitarism / Q000150:complications / Q000151:congenital / Q000175:diagnosis / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D053858:Metabolic Networks and Pathways; D010902:Pituitary Gland / Q000002:abnormalities / Q000378:metabolism / Q000503:physiopathology; D012640:Seizures / Q000209:etiology; D013974:Thyroxine / Q000008:administration & dosage* / Q000172:deficiency; D016896:Treatment Outcome
chemical_list: D013974:Thyroxine; D006854:Hydrocortisone