title: A unique case of Shwachman-Diamond syndrome presenting with congenital hypopituitarism.
abstract: Shwachman-Diamond syndrome (SDS) is an autosomal recessive bone marrow failure syndrome typically characterized by neutropenia and pancreatic dysfunction, although phenotypic presentations vary, and the endocrine phenotype is not well-described. We report a unique case of a patient with SDS who initially presented with hypoglycemia and micropenis in the newborn period and was diagnosed with congenital hypopituitarism. We are not aware of any other cases of SDS documented with this combination of complex endocrinopathies.
authors.forename: Nurin
authors.initials: N
authors.lastname: Jivani
authors.forename: Carmen
authors.initials: C
authors.lastname: Torrado-Jule
authors.forename: Sarah
authors.initials: S
authors.lastname: Vaiselbuh
authors.forename: Eleny
authors.initials: E
authors.lastname: Romanos-Sirakis
mesh_terms: D001855:Bone Marrow Diseases / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D003131:Combined Modality Therapy; D057210:Delayed Diagnosis; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D005183:Failure to Thrive; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007018:Hypopituitarism / Q000151:congenital* / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D007231:Infant, Newborn; D007234:Infant, Premature; D008068:Lipomatosis / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D008297:Male; D009154:Mutation; D009519:New York City; D011506:Proteins / Q000235:genetics; D000081003:Shwachman-Diamond Syndrome; D016896:Treatment Outcome
chemical_list: D011506:Proteins; C470521:SBDS protein, human