title: Endocrinopathies, Bone Health, and Insulin Resistance in Patients with Fanconi Anemia after Hematopoietic Cell Transplantation.
abstract: 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.
authors.affiliation: Blood and Marrow Transplant Program, University of Minnesota, Minneapolis, Minnesota; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Jessie L
authors.initials: JL
authors.lastname: Barnum
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota; Division of Endocrinology, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Anna
authors.initials: A
authors.lastname: Petryk
authors.affiliation: Biostatistical Design and Analysis Center, Clinical and Translational Science Institute, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Lei
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Blood and Marrow Transplant Program, University of Minnesota, Minneapolis, Minnesota; Biostatistics and Informatics Core, Masonic Cancer Center, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Todd E
authors.initials: TE
authors.lastname: DeFor
authors.affiliation: Clinical Research Division, Fred Hutchinson Cancer Research Center, Seattle, Washington.
authors.forename: K Scott
authors.initials: KS
authors.lastname: Baker
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota; Division of Pediatric Cardiology, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Julia
authors.initials: J
authors.lastname: Steinberger
authors.affiliation: Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota; Division of Endocrinology, University of Minnesota, Minneapolis, Minnesota.
authors.forename: Brandon
authors.initials: B
authors.lastname: Nathan
authors.affiliation: Blood and Marrow Transplant Program, University of Minnesota, Minneapolis, Minnesota; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota.
authors.forename: John E
authors.initials: JE
authors.lastname: Wagner
authors.affiliation: Blood and Marrow Transplant Program, University of Minnesota, Minneapolis, Minnesota; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota. Electronic address: macmi002@umn.edu.
authors.forename: Margaret L
authors.initials: ML
authors.lastname: MacMillan
mesh_terms: D000293:Adolescent; D000328:Adult; D001837:Body Weights and Measures; D015519:Bone Density; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004700:Endocrine System Diseases / Q000209:etiology*; D005199:Fanconi Anemia / Q000150:complications / Q000628:therapy*; D005260:Female; D019337:Hematologic Neoplasms / Q000628:therapy; D018380:Hematopoietic Stem Cell Transplantation / Q000009:adverse effects / Q000379:methods*; D006801:Humans; D007037:Hypothyroidism / Q000209:etiology; D007333:Insulin Resistance; D008297:Male; D055815:Young Adult
keywords: Bone mineral density; Endocrine; Fanconi anemia; Hematopoietic cell transplantation; Hypothyroidism; Insulin resistance