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Disorders of sex development and Diamond-Blackfan anemia: is there an association?

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Abstract

Diamond-Blackfan anemia (DBA) is a rare disorder characterized by congenital pure red cell aplasia. Mutations in ribosomal protein S19 (RPS19) have been identified in 25% of DBA patients. More recently, mutations in other ribosomal protein genes, namely RPS7, RPS15, RPS24, RPS17, RPS27A, RPL35a, RPL36, RPL11, and RPL5, have also been found in patients with DBA. Approximately 30–40% of affected patients have various associated physical anomalies, mostly craniofacial and at the extremities, but also cardiac or urogenital malformations. Anomalies of the urogenital tract in DBA patients comprise changes in the kidney (dysplasia, agenesis, duplication, horseshoe kidney) and genitalia (hypospadias). To date, disorders of sex development (DSD) have only been described once in association with DBA. We report here four DBA patients who exhibited DSD.

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Acknowledgments

We would like to thank the patients, their family, all the physicians, and the SHIP for participating in this study. We are deeply indebted to Isabelle Marie, who is in charge of the French DBA registry.

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Authors and Affiliations

  1. Pediatric Nephrology, University Children’s Hospital, Ludwig-Maximilian’s University, Dr. von Haunersches Kinderspital, Lindwurmstraße 4, 80337, Munich, Germany

    Julia Hoefele & Martin Alberer

  2. Service de Pédiatrie, Centre Hospitalier de Besançon, 25030, Besançon, France

    Anne-Marie Bertrand

  3. Department of Pediatric Surgery, University Children’s Hospital, Ludwig-Maximilian’s University, Dr. von Haunersches Kinderspital, Munich, Germany

    Maximilian Stehr

  4. AP-HP, Service d’Hématologie-Oncologie pédiatrique, Hôpital Saint-Louis, Paris, France

    Thierry Leblanc

  5. Centre de dépistage de la drépanocytose, Paris, France

    Gil Tchernia

  6. AP-HP, Service d’Hématologie Biologique, Hôpital Robert-Debré, Paris, France

    Maud Simansour & Lydie Da Costa

  7. Pediatric Endocrinology Unit, CHU Saint Jacques, Besançon, France

    Brigitte Mignot

  8. Department of Pediatric Endocrinology, University Children’s Hospital, Ludwig-Maximilian’s University, Dr. von Haunersches Kinderspital, Munich, Germany

    Hans-Peter Schwarz

  9. Inserm U790, Villejuif, France

    Lydie Da Costa

  10. Université Paris VII-Denis Diderot, Paris, France

    Lydie Da Costa

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  1. Julia Hoefele
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  9. Hans-Peter Schwarz
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  10. Lydie Da Costa
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Correspondence to Julia Hoefele.

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Julia Hoefele and Anne-Marie Bertrand contributed equally to the work.

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Hoefele, J., Bertrand, AM., Stehr, M. et al. Disorders of sex development and Diamond-Blackfan anemia: is there an association?. Pediatr Nephrol 25, 1255–1261 (2010). https://doi.org/10.1007/s00467-010-1497-y

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  • DOI: https://doi.org/10.1007/s00467-010-1497-y

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