title: Androgen therapy in Fanconi anemia: A retrospective analysis of 30 years in Germany.
abstract: A substantial number of individuals with Fanconi anemia (FA) develop bone marrow failure and are treated with androgen therapy in order to increase blood counts. The authors retrospectively identified 70 patients who received androgen therapy any time between July 1976 and September 2014. Among these patients, 37 had medical records for analysis. Twenty-five of the 37 (68%) patients had response in hemoglobin level (n = 25), platelet count (n = 21), and/or absolute neutrophil count (n = 13). The median rise in hemoglobin was 6.5 mg/dL, platelet count 70,000/mm(3), and absolute neutrophil count (ANC) 1530/μL. The majority of patients (n = 22) had a response in 2 or more blood parameters. Reasons for discontinuation of therapy included development of cytogenetic aberrations (n = 9), lack of response (n = 7), hepatic adenoma (n = 6), progression to myelodysplastic syndrome/acute myeloid leukemia (n = 3), stabilization of blood parameters (n = 3), resolution of cytopenia secondary to mosaicism (n = 1), virilization (n = 1), development of anogenital carcinoma (n = 1), inaccessibility of medication (n = 1), and unknown (n = 1). Four patients at last follow-up remain on androgen therapy. These results highlight that androgen therapy can significantly improve blood counts for many FA patients, but progression of underlying bone marrow disease and development of liver adenomas requires careful monitoring.
authors.affiliation: a Department of Pediatric Hematology Oncology , Hannover Medical School , Hannover , Germany.
authors.forename: Laura
authors.initials: L
authors.lastname: Paustian
authors.affiliation: a Department of Pediatric Hematology Oncology , Hannover Medical School , Hannover , Germany.
authors.forename: Mwe Mwe
authors.initials: MM
authors.lastname: Chao
authors.affiliation: b Department of Pediatrics III , University Children's Hospital Essen, University of Duisburg-Essen , Essen , Germany.|c Department of Otorhinolaryngology, Head and Neck Surgery , Heinrich Heine University , Düsseldorf , Germany.
authors.forename: Helmut
authors.initials: H
authors.lastname: Hanenberg
authors.affiliation: d Department of Human Genetics , University of Würzburg , Würzburg , Germany.
authors.forename: Detlev
authors.initials: D
authors.lastname: Schindler
authors.affiliation: e Institute of Medical and Human Genetics , Charité University Medicine Berlin , Berlin , Germany.
authors.forename: Heidemarie
authors.initials: H
authors.lastname: Neitzel
authors.affiliation: a Department of Pediatric Hematology Oncology , Hannover Medical School , Hannover , Germany.
authors.forename: Christian Peter
authors.initials: CP
authors.lastname: Kratz
authors.affiliation: f Department of Pediatric Oncology, Hematology, and Stem Cell Transplantation , Charité University Medicine Berlin , Berlin , Germany.
authors.forename: Wolfram
authors.initials: W
authors.lastname: Ebell
mesh_terms: D000236:Adenoma / Q000097:blood / Q000401:mortality; D000293:Adolescent; D000328:Adult; D000728:Androgens / Q000009:adverse effects / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005199:Fanconi Anemia / Q000097:blood / Q000188:drug therapy / Q000401:mortality; D005260:Female; D005858:Germany / Q000453:epidemiology; D006454:Hemoglobins / Q000378:metabolism; D006801:Humans; D007958:Leukocyte Count; D008113:Liver Neoplasms / Q000097:blood / Q000401:mortality; D008297:Male; D016609:Neoplasms, Second Primary / Q000097:blood / Q000401:mortality; D012189:Retrospective Studies
chemical_list: D000728:Androgens; D006454:Hemoglobins
keywords: Androgen therapy; Fanconi anemia; bone marrow failure