title: Disorders of sex development and Diamond-Blackfan anemia: is there an association?
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.
authors.affiliation: Pediatric Nephrology, University Children's Hospital, Ludwig-Maximilian's University, Dr. von Haunersches Kinderspital, Lindwurmstrasse 4, 80337, Munich, Germany. julia.hoefele@med.uni-muenchen.de
authors.forename: Julia
authors.initials: J
authors.lastname: Hoefele
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Bertrand
authors.forename: Maximilian
authors.initials: M
authors.lastname: Stehr
authors.forename: Thierry
authors.initials: T
authors.lastname: Leblanc
authors.forename: Gil
authors.initials: G
authors.lastname: Tchernia
authors.forename: Maud
authors.initials: M
authors.lastname: Simansour
authors.forename: Brigitte
authors.initials: B
authors.lastname: Mignot
authors.forename: Martin
authors.initials: M
authors.lastname: Alberer
authors.forename: Hans-Peter
authors.initials: HP
authors.lastname: Schwarz
authors.forename: Lydie
authors.initials: L
authors.lastname: Da Costa
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D029503:Anemia, Diamond-Blackfan / Q000150:complications* / Q000235:genetics / Q000473:pathology; D012734:Disorders of Sex Development / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D012269:Ribosomal Proteins / Q000235:genetics*
chemical_list: D012269:Ribosomal Proteins