title: Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.
abstract: OBJECTIVE
  To characterize the endocrine phenotype of patients with Shwachman-Diamond syndrome (SDS).
  
  
  METHODS
  Clinically indicated endocrine screening data from 43 patients with SDS or SDS-like presentation were analyzed according to sex, age, and genetic testing. In addition to 25 patients with biallelic Shwachman-Bodian-Diamond syndrome (SBDS) gene mutations, we evaluated 18 patients with cytopenias who were receiving pancreatic enzyme replacement but were without SBDS mutation. We performed a retrospective review of growth records and clinically indicated endocrine evaluations.
  
  
  RESULTS
  Of patients with SBDS mutations, 2 had low stimulated growth hormone levels, 2 had mildly elevated thyrotropin levels, 5 had abnormal glucose levels, and 1 had an elevated follicle-stimulating hormone level (post transplantation). In contrast, 1 patient without SBDS mutations had postprandial hyperglycemia and 3 had mildly low free thyroxine levels without short stature. Endocrine abnormalities were identified in 19% of short patients and 26% of the whole group. Of patients with SBDS mutations, 56% had a height expressed in SD units from the mean for age and sex of <-1.8, in contrast to only 12% of patients without SBDS mutations (38% of the whole group). Body mass index z score was significantly greater in the group with SBDS mutations (P<.001).
  
  
  CONCLUSIONS
  Although short stature was more common in patients with SBDS mutations, no consistent endocrine phenotype was observed in patients with SDS regardless of genetic testing.
authors.affiliation: Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, OH, USA.
authors.forename: Kasiani C
authors.initials: KC
authors.lastname: Myers
authors.forename: Susan R
authors.initials: SR
authors.lastname: Rose
authors.forename: Meilan M
authors.initials: MM
authors.lastname: Rutter
authors.forename: Parinda A
authors.initials: PA
authors.lastname: Mehta
authors.forename: Jane C
authors.initials: JC
authors.lastname: Khoury
authors.forename: Theresa
authors.initials: T
authors.lastname: Cole
authors.forename: Richard E
authors.initials: RE
authors.lastname: Harris
mesh_terms: D000293:Adolescent; D001855:Bone Marrow Diseases / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D004392:Dwarfism / Q000235:genetics* / Q000378:metabolism; D004703:Endocrine System / Q000378:metabolism*; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D010641:Phenotype; D012189:Retrospective Studies; D000081003:Shwachman-Diamond Syndrome; D055815:Young Adult