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236 A N A L E S R A N M R E V I S T A F U N D A D A E N 1 8 7 9 ANEMIA DE FANCONI Y MANIFESTACIONES ENDOCRINAS Corredor Andrés B, et al. An RANM. 2026;143(02): 227 - 236 tion for Inherited Bone Marrow Failure Syn- dromes: Consensus Statement from the Se- cond Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation. Biol Blood Marrow Transplant 2017; 23 : 726–735. 29. Barnum JL, Petryk A, Zhang L, DeFor TE, Baker KS, Steinberger J et al. Endocrino- pathies, Bone Health, and Insulin Resistance in Patients with Fanconi Anemia after Hema- topoietic Cell Transplantation. Biol Blood Ma- rrow Transplant 2016; 22 : 1487. 30. Wajnrajch MP, Gertner JM, Huma Z, Popovic J, Lin K, Verlander PC et al. Evaluation of growth and hormonal status in patients referred to the international fanconi anemia registry. Pedia- trics 2001; 107 : 744–754. 31. Giri N, Batista DL, Alter BP, Stratakis CA. En- docrine abnormalities in patients with fanconi anemia. Journal of Clinical Endocrinology and Metabolism 2007; 92 : 2624–2631. 32. Giri N, Batista DL, Alter BP, Stratakis CA. En- docrine abnormalities in patients with Fanco- ni anemia. J Clin Endocrinol Metab 2007; 92 : 2624–2631. 33. Wajnrajch MP, Gertner JM, Huma Z, Popovic J, Lin K, Verlander PC et al. Evaluation of growth and hormonal status in patients referred to the International Fanconi Anemia Registry. Pedia- trics 2001; 107 : 744–754. 34. Trivin C, Gluckman E, Leblanc T, Cousin MN, Soulier J, Brauner R. Factors and mar- kers of growth hormone secretion and gona- dal function in Fanconi anemia. Growth Horm IGF Res 2007; 17 : 122–129. 35. Corredor B, Solís I, Zubicaray J, Sevilla J, Ar- gente J. Small pituitary volume and central nervous system anomalies in Fanconi Ane- mia. Front Endocrinol (Lausanne) 2024; 15 . doi:10.3389/FENDO.2024.1385650. 36. Sii-Felice K, Etienne O, Hoffschir F, Mathieu C, Riou L, Barroca V et al. Fanconi DNA re- pair pathway is required for survival and long-term maintenance of neural progenitors. EMBO Journal 2008; 27 : 770–781. 37. Campi I, Dell’Acqua M, Grassi ES, Vigone MC, Persani L. Unusual causes of hyperthyrotropi- nemia and differential diagnosis of primary hypothyroidism: a revised diagnostic flow- chart. Eur Thyroid J 2023; 12 . doi:10.1530/ ETJ-23-0012. 38. Cattoni A, Molinari S, Gaiero A, De Lorenzo P, Fichera G, Riva B et al. Thyroid Disorders Following Hematopoietic Stem Cell Trans- plantation in Childhood: Impact of Condi- tioning Regimen on Thyroid Dysfunction, Volume Changes, and Occurrence of Nodu- les. Transplant Cell Ther 2022; 28 : 506.e1- 506.e12. 39. Slatter MA, Gennery AR, Cheetham TD, Bhattacharya TD, Crooks BNA, Flood TJ et al. Thyroid dysfunction after bone marrow transplantation for primary immunodeficien- cy without the use of total body irradiation in conditioning. Bone Marrow Transplant 2004; 33 : 949–953. 40. Sklavos MM, Giri N, Stratton P, Alter BP, Pinto LA. Anti-Müllerian hormone deficiency in fe- males with Fanconi anemia. J Clin Endocrinol Metab 2014; 99 : 1608–1614. 41. Krausz C, Riera-Escamilla A, Chianese C, Mo- reno-Mendoza D, Ars E, Rajmil O et al. From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia. Genetics in Medicine 2019; 21 : 189–194. 42. Zhao J, Zhang Y, Li W, Yao M, Liu C, Zhang Z et al. Research progress of the Fanconi anemia pathway and premature ovarian insufficien- cy†. Biol Reprod 2023; 109 : 570–585. 43. Wallace WHB, Thomson AB, Saran F, Kelsey TW. Predicting age of ovarian failure after ra- diation to a field that includes the ovaries. Int J Radiat Oncol Biol Phys 2005; 62 : 738–744. 44. Lee SH, Shin CH. Reduced male fertility in childhood cancer survivors. Ann Pediatr Endo- crinol Metab 2013; 18 : 168–72. 45. Figueiredo AA, Cavaco D, Damásio I, Maciel J, Pinheiro S, Donato S et al. Endocrine com- plications after hematopoietic stem cell trans- plantation during childhood-Results from a close follow-up in a cohort of 152 patients. Clin Endocrinol (Oxf ) 2023; 98 : 202–211. 46. Rose SR, Rutter MM, Mueller R, Harris M, Ha- mon B, Bulluck AF et al. Bone mineral density is normal in children with Fanconi anemia. Pe- diatr Blood Cancer 2011; 57 : 1034–1038. 47. Koo J, Howell JC, Hornung L, Sabulski A, Mehta PA, Davies SM et al. Infrequent frac- tures and resilient bone mineral density: bone health in patients with Fanconi anemia. Hae- matologica 2024; 109 : 3435–3438. 48. Elder DA, D’Alessio DA, Eyal O, Mueller R, Smith FO, Kansra AR et al. Abnormalities in glucose tolerance are common in children with Fanconi anemia and associated with impaired insulin secretion. Pediatr Blood Cancer 2008; 51 : 256–260. 49. Vicente-Muñoz S, Summer SS, Galletta TJ, Me- hta KY, Lane AN, Davies SM et al. Metabolic reprogramming in Fanconi anemia: Evidence of compromised glucose oxidation, enhanced ketogenesis, and metabolic inflexibility. Sci Adv 2025; 11 : 6117. 50. Drews G, Krippeit-Drews P, Duïfer M. Oxida- tive stress and beta-cell dysfunction. Pflugers Arch 2010; 460 : 703–718. Si desea citar nuestro artículo: Corredor Andrés B, Sevilla Navarro J, Argente Oliver J. Anemia de Fanconi: manifestaciones endocrinológicas relacionadas con la enfermedad. An RANM. 2026;143(02): 227– 236. DOI: 10.32440/ ar.2026.143.02.r ev08

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