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

被引：0
作者：
Julia Hoefele
Anne-Marie Bertrand
Maximilian Stehr
Thierry Leblanc
Gil Tchernia
Maud Simansour
Brigitte Mignot
Martin Alberer
Hans-Peter Schwarz
Lydie Da Costa
机构：
[1] Ludwig-Maximilian’s University,Pediatric Nephrology, University Children’s Hospital
[2] Dr. von Haunersches Kinderspital,Service de Pédiatrie
[3] Centre Hospitalier de Besançon,Department of Pediatric Surgery, University Children’s Hospital
[4] Ludwig-Maximilian’s University,AP
[5] Dr. von Haunersches Kinderspital,HP, Service d’Hématologie
[6] Hôpital Saint-Louis,Oncologie pédiatrique
[7] Centre de dépistage de la drépanocytose,AP
[8] Hôpital Robert-Debré,HP, Service d’Hématologie Biologique
[9] CHU Saint Jacques,Pediatric Endocrinology Unit
[10] Ludwig-Maximilian’s University,Department of Pediatric Endocrinology, University Children’s Hospital
[11] Dr. von Haunersches Kinderspital,undefined
[12] Inserm U790,undefined
[13] Université Paris VII-Denis Diderot,undefined
来源：
Pediatric Nephrology | 2010年 / 25卷
关键词：
Diamond-Blackfan anemia; Disorders of Sex Development; Erythroblastopenia; Intersexual genitalia;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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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页码：1255 / 1261
页数：6
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