Disorders of sex development and Diamond-Blackfan anemia: is there an association?
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.
Hoefele
Julia
J
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
Bertrand
Anne-Marie
AM
Stehr
Maximilian
M
Leblanc
Thierry
T
Tchernia
Gil
G
Simansour
Maud
M
Mignot
Brigitte
B
Alberer
Martin
M
Schwarz
Hans-Peter
HP
Da Costa
Lydie
L
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*
D012269:Ribosomal Proteins