title: Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.
abstract: OBJECTIVE
  Inherited metabolic diseases (IMDs) can affect many organ systems, including the endocrine system. There are limited data regarding endocrine dysfunctions related to IMDs in adults, however, no data exist in pediatric patients with IMDs. The aim of this study was to investigate endocrine dysfunctions in patients with IMDs by assessing their demographic, clinical, and laboratory data.
  
  
  METHODS
  Data were obtained retrospectively from the medical reports of patients with IMDs who were followed by the division of pediatric metabolism and nutrition between June 2011 and November 2013.
  
  
  RESULTS
  In total, 260 patients [139 males (53%) and 121 females (47%)] with an IMD diagnosis were included in the study. The mean age of the patients was 5.94 (range; 0.08 to 49) years and 95.8% (249 of 260 patients) were in the pediatric age group. Growth status was evaluated in 258 patients and of them, 27 (10.5%) had growth failure, all cases of which were attributed to non-endocrine reasons. There was a significant correlation between growth failure and serum albumin levels below 3.5 g/dL (p=0.002). Only three of 260 (1.1%) patients had endocrine dysfunction. Of these, one with lecithin-cholesterol acyltransferase deficiency and another with Kearns-Sayre syndrome had diabetes, and one with glycerol kinase deficiency had glucocorticoid deficiency.
  
  
  CONCLUSIONS
  Endocrine dysfunction in patients with IMDs is relatively rare. For this reason, there is no need to conduct routine endocrine evaluations in most patients with IMDs unless a careful and detailed history and a physical examination point to an endocrine dysfunction.
authors.forename: Şahin
authors.initials: Ş
authors.lastname: Erdöl
authors.affiliation: Uludağ University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Endocrinology, Bursa, Turkey, E-mail: drhalil@uludag.edu.tr.
authors.forename: Halil
authors.initials: H
authors.lastname: Sağlam
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000503:physiopathology; D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D003920:Diabetes Mellitus / Q000503:physiopathology; D004703:Endocrine System / Q000378:metabolism / Q000503:physiopathology*; D005260:Female; D005991:Glycerol Kinase / Q000172:deficiency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007625:Kearns-Sayre Syndrome / Q000503:physiopathology; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000503:physiopathology; D008297:Male; D008659:Metabolic Diseases / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology*; D008875:Middle Aged; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D005991:Glycerol Kinase