title: Neonatal isolated ACTH deficiency (IAD): a potentially life-threatening but treatable cause of neonatal cholestasis.
abstract: Isolated ACTH deficiency (IAD) is a rare cause of neonatal cholestasis and hypoglycaemia. This diagnosis has a 20% mortality potential if unrecognised. We describe a case of an infant presenting with cholestatic jaundice and hypoglycaemia. The patient had laboratory findings suggestive of IAD, which was later confirmed with molecular genetic testing. One of the mutations this patient had is a new finding. The patient was started on glucocorticoid replacement therapy after which his bilirubin and glucose levels normalised.
authors.affiliation: Detroit Medical Center, Detroit, Michigan, USA Wayne State University, Detroit, Michigan, USA.
authors.forename: Mahdi
authors.initials: M
authors.lastname: Alsaleem
authors.affiliation: Detroit Medical Center, Detroit, Michigan, USA Wayne State University, Detroit, Michigan, USA.
authors.forename: Lina
authors.initials: L
authors.lastname: Saadeh
authors.affiliation: Wayne State University, Detroit, Michigan, USA.
authors.forename: Amrit
authors.initials: A
authors.lastname: Misra
authors.affiliation: Wayne State University, Detroit, Michigan, USA.
authors.forename: Shailender
authors.initials: S
authors.lastname: Madani
mesh_terms: D000305:Adrenal Cortex Hormones / Q000008:administration & dosage; D000324:Adrenocorticotropic Hormone / Q000172:deficiency* / Q000235:genetics; D003937:Diagnosis, Differential; D004700:Endocrine System Diseases / Q000150:complications* / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000150:complications* / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D006854:Hydrocortisone / Q000008:administration & dosage; D007003:Hypoglycemia / Q000150:complications* / Q000209:etiology / Q000235:genetics; D007231:Infant, Newborn; D041781:Jaundice, Obstructive / Q000209:etiology*; D008297:Male; D009154:Mutation / Q000235:genetics; D020825:T-Box Domain Proteins / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D000305:Adrenal Cortex Hormones; D018398:Homeodomain Proteins; D020825:T-Box Domain Proteins; C486589:TBX19 protein, human; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone