CONTEXT: 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.
EVIDENCE ACQUISITION: 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.
EVIDENCE SYNTHESIS: 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.