Endocrine Disorders in Fanconi Anemia: Recommendations for Screening and Treatment | Zendy

Anna Petryk | Zendy; Roopa Kanakatti Shankar | Zendy; Neelam Giri | Zendy; Anthony N. Hollenberg | Zendy; Meilan M. Rutter | Zendy; Brandon M. Nathan | Zendy; Maya Lodish | Zendy; Blanche P. Alter | Zendy; Constantine A. Stratakis | Zendy; Susan R. Rose | Zendy

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Endocrine Disorders in Fanconi Anemia: Recommendations for Screening and Treatment

Author(s) -

Anna Petryk,

Roopa Kanakatti Shankar,

Neelam Giri,

Anthony N. Hollenberg,

Meilan M. Rutter,

Brandon M. Nathan,

Maya Lodish,

Blanche P. Alter,

Constantine A. Stratakis,

Susan R. Rose

Publication year - 2015

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-4357

Subject(s) - fanconi anemia , medicine , endocrine system , pediatric endocrinology , short stature , pediatrics , dyslipidemia , bioinformatics , endocrinology , intensive care medicine , diabetes mellitus , hormone , biology , biochemistry , gene , dna repair

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.

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