title: Endocrine disorders in Fanconi anemia: recommendations for screening and treatment.
abstract: BACKGROUND
  Endocrine problems are common in patients with Fanconi anemia (FA). About 80% of children and adults with FA have at least one endocrine abnormality, including short stature, GH deficiency, abnormal glucose or insulin metabolism, dyslipidemia, hypothyroidism, pubertal delay, hypogonadism, or impaired fertility. The goal of this report is to provide an overview of endocrine abnormalities and guidelines for routine screening and treatment to allow early diagnosis and timely intervention.
  
  
  METHODS
  This work is based on a comprehensive literature review, including relevant articles published between 1971 and 2014, and proceedings of a Consensus Conference held by the Fanconi Anemia Research Fund in 2013.
  
  
  RESULTS
  The panel of experts collected published evidence and discussed its relevance to reflect current information about the endocrine care of children and adults with FA before the Consensus Conference and through subsequent deliberations that led to the consensus.
  
  
  CONCLUSIONS
  Individuals with FA should be routinely screened for endocrine abnormalities, including evaluation of growth; glucose, insulin, and lipid metabolism; thyroid function; puberty; gonadal function; and bone mineral metabolism. Inclusion of an endocrinologist as part of the multidisciplinary patient care team is key to providing comprehensive care for patients with FA.
authors.affiliation: Division of Pediatric Endocrinology (A.P., B.N.), University of Minnesota Masonic Children's Hospital, Minneapolis, Minnesota 55454; Department of Pediatrics (R.K.S.), Children's Hospital of Richmond at Virginia Commonwealth University, Richmond, Virginia 23229; Clinical Genetics Branch (N.G., B.P.A.), Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland 20850; Division of Endocrinology, Diabetes and Metabolism (A.N.H.), Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215; Division of Endocrinology (M.M.R., S.R.R.), Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229; Pediatric Endocrinology Inter-Institute Training Program (M.L.), National Institutes of Health, Bethesda, Maryland 20892; and Section on Endocrinology and Genetics (M.L., C.A.S.), Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, Maryland 20892.
authors.forename: Anna
authors.initials: A
authors.lastname: Petryk
authors.forename: Roopa
authors.initials: R
authors.lastname: Kanakatti Shankar
authors.forename: Neelam
authors.initials: N
authors.lastname: Giri
authors.forename: Anthony N
authors.initials: AN
authors.lastname: Hollenberg
authors.forename: Meilan M
authors.initials: MM
authors.lastname: Rutter
authors.forename: Brandon
authors.initials: B
authors.lastname: Nathan
authors.forename: Maya
authors.initials: M
authors.lastname: Lodish
authors.forename: Blanche P
authors.initials: BP
authors.lastname: Alter
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
authors.forename: Susan R
authors.initials: SR
authors.lastname: Rose
mesh_terms: D000328:Adult; D002648:Child; D004700:Endocrine System Diseases / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D005199:Fanconi Anemia / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D044882:Glucose Metabolism Disorders / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D006130:Growth Disorders / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D019382:Human Growth Hormone / Q000172:deficiency / Q000627:therapeutic use; D006801:Humans; D044342:Malnutrition / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D008403:Mass Screening / Q000379:methods / Q000592:standards*; D017410:Practice Guidelines as Topic; D013851:Thinness / Q000175:diagnosis / Q000209:etiology / Q000628:therapy
chemical_list: D019382:Human Growth Hormone