Endocrinopathies, Bone Health, and Insulin Resistance in Patients with Fanconi Anemia after Hematopoietic Cell Transplantation

Jessie L. Barnum, Anna Petryk, Lei Zhang, Todd E. DeFor, K. Scott Baker, Julia Steinberger, Brandon Nathan, John E. Wagner, Margaret L. MacMillan

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


A number of endocrinopathies have been described after hematopoietic cell transplantation (HCT), but data are limited in patients with Fanconi anemia (FA). We report several endocrine-based disorders in a cohort of 44 patients with FA after HCT compared with both 74 patients who received HCT for hematologic malignancies and with 275 healthy controls. Endocrinopathies assessed included hypothyroidism, hypogonadism, short stature, dyslipidemia, insulin resistance, abnormalities in body composition, and bone health. Most (86%) patients with FA had at least 1 endocrinopathy, with 11% having 3 or more. Hypothyroidism was seen in 57%, hypogonadism in 27%, short stature in 50%, and reduced total body and lumbar spine bone mineral density (BMD) (height adjusted Z-score < −1) in 57% and 21%, respectively. Vitamin D deficiency was seen in 71%. Short stature was associated with younger age at HCT and gonadal failure was associated with older age at HCT. Insulin resistance was associated with increased percent fat mass and increased android/gynoid ratio by dual energy X-ray absorptiometry. Hypothyroidism, short stature, and reduced total body BMD were more prevalent in patients with FA compared with patients with hematologic malignancies. We recommend an assessment before transplantation and close follow-up afterwards to ensure proper clinical management. Future studies should continue to explore the impact of HCT on endocrinopathies in FA patients.

Original languageEnglish (US)
Pages (from-to)1487-1492
Number of pages6
JournalBiology of Blood and Marrow Transplantation
Issue number8
StatePublished - Aug 1 2016

Bibliographical note

Publisher Copyright:
© 2016 American Society for Blood and Marrow Transplantation


  • Bone mineral density
  • Endocrine
  • Fanconi anemia
  • Hematopoietic cell transplantation
  • Hypothyroidism
  • Insulin resistance


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