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01.07.2010 | Original Article

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

verfasst von: Julia Hoefele, Anne-Marie Bertrand, Maximilian Stehr, Thierry Leblanc, Gil Tchernia, Maud Simansour, Brigitte Mignot, Martin Alberer, Hans-Peter Schwarz, Lydie Da Costa, on the behalf of the SHIP

Erschienen in: Pediatric Nephrology | Ausgabe 7/2010

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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.

Josephs HW (1936) Anaemia of infancy and early childhood. Medicine 15:307–451CrossRef

Diamond LK, Blackfan KD (1938) Hypoplastic anemia. Am J Dis Child 56:464–467

Ball SE, McGuckin CP, Jenkins G, Gordon-Smith EC (1996) Diamond-Blackfan anaemia in the U.K.: analysis of 80 cases from a 20-year birth cohort. Br J Haematol 94:645–653CrossRefPubMed

Willig TN, Niemeyer CM, Leblanc T, Tiemann C, Robert A, Budde J, Lambiliotte A, Kohne E, Souillet G, Eber S, Stephan JL, Girot R, Bordigoni P, Cornu G, Blanche S, Guillard JM, Mohandas N, Tchernia G (1999) Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d’Hématologie et d’Immunologie Pédiatrique (SHIP), Gesellschaft für Pädiatrische Onkologie und Hämatologie (GPOH), and the European Society for Pediatric Hematology and Immunology (ESPHI). Pediatr Res 46:553–561CrossRefPubMed

Da Costa L, Willig TN, Fixler J, Mohandas N, Tchernia G (2001) Diamond-Blackfan anemia. Curr Opin Pediatr 13:10–15CrossRefPubMed

Vlachos A, Klein GW, Lipton JM (2001) The Diamond-Blackfan anemia registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia. J Pediatr Hematol Oncol 23:377–382CrossRefPubMed

Lipton JM, Atsidaftos E, Zyskind I, Vlachos A (2006) Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: an update from the Diamond Blackfan Anemia Registry. Pediatr Blood Cancer 46:558–564CrossRefPubMed

Ramenghi U, Campagnoli MF, Garelli E, Carando A, Brusco A, Bagnara GP, Strippoli P, Izzi GC, Brandalise S, Riccardi R, Dianzani I (2000) Diamond-Blackfan anemia: report of seven further mutations in the RPS19 gene and evidence of mutation heterogeneity in the Italian population. Blood Cells Mol Dis 26:417–422CrossRefPubMed

Glader BE, Backer K (1988) Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases. Br J Haematol 68:165–168CrossRefPubMed

10.

Willig TN, Pérignon JL, Gustavsson P, Gane P, Draptchinskaya N, Testard H, Girot R, Debré M, Stéphan JL, Chenel C, Cartron JP, Dahl N, Tchernia G (1998) High adenosine deaminase level among healthy probands of Diamond-Blackfan anemia (DBA) cosegregates with the DBA gene region on chromosome 19q13. Blood 92:4422–4427PubMed

11.

Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N (1999) The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet 21:169–175CrossRefPubMed

12.

Gazda H, Lipton JM, Willig TN, Ball S, Niemeyer CM, Tchernia G, Mohandas N, Daly MJ, Ploszynska A, Orfali KA, Vlachos A, Glader BE, Rokicka-Milewska R, Ohara A, Baker D, Pospisilova D, Webber A, Viskochil DH, Nathan DG, Beggs AH, Sieff CA (2001) Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease. Blood 97:2145–2150CrossRefPubMed

13.

Gazda H, Grabowska A, Merida-Long LB, Latawiec E, Schneider HE, Lipton JM, Vlachos A, Atsidaftos E, Ball SE, Orfali KA, Niewiadomska E, Da Costa L, Tchernia G, Niemeyer C, Meerpohl JJ, Stahl J, Schratt G, Glader B, Backer K, Wong C, Nathan DG, Beggs AH, Sieff CA (2006) Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. Am J Hum Genet 79:1110–1118CrossRefPubMed

14.

Gazda HT, Sheen MR, Vlachos A, Choesmel V, O’Donohue MF, Schneider H, Darras N, Hasman C, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Zaucha JM, Glader B, Niemeyer C, Meerpohl JJ, Atsidaftos E, Lipton JM, Gleizes PE, Beggs AH (2008) Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. Am J Hum Genet 83:769–780CrossRefPubMed

15.

Cmejla R, Cmejlova J, Handrkova H, Petrak J, Petrtylova K, Mihal V, Stary J, Cerna Z, Jabali Y, Pospisilova D (2009) Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia. Hum Mutat 30:321–327CrossRefPubMed

16.

Farrar JE, Nater M, Caywood E, McDevitt MA, Kowalski J, Takemoto CM, Talbot CC Jr, Meltzer P, Esposito D, Beggs AH, Schneider HE, Grabowska A, Ball SE, Niewiadomska E, Sieff CA, Vlachos A, Atsidaftos E, Ellis SR, Lipton JM, Gazda HT, Arceci RJ (2008) Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. Blood 112:1582–1592CrossRefPubMed

17.

Leger-Silvestre I, Caffrey JM, Dawaliby R, Alvarez-Arias DA, Gas N, Bertolone SJ, Gleizes PE, Ellis SR (2005) Specific role for yeast homologs of the Diamond Blackfan anemia-associated Rps19 protein in ribosome synthesis. J Biol Chem 280:38177–38185CrossRefPubMed

18.

Liu JM, Ellis SR (2006) Ribosomes and marrow failure: coincidental association or molecular paradigm? Blood 107:4583–4588CrossRefPubMed

19.

Choesmel V, Bacqueville D, Rouquette J, Noaillac-Depeyre J, Fribourg S, Crétien A, Leblanc T, Tchernia G, Da Costa L, Gleizes PE (2007) Impaired ribosome biogenesis in Diamond-Blackfan anemia. Blood 109:1275–1283CrossRefPubMed

20.

Campagnoli MF, Ramenghi U, Armiraglio M, Quarello P, Garelli E, Carando A, Avondo F, Pavesi E, Fribourg S, Gleizes PE, Loreni F, Dianzani I (2008) RPS19 mutations in patients with Diamond-Blackfan anemia. Hum Mutat 29:911–920CrossRefPubMed

21.

Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES Consensus Group, ESPE Consensus Group (2006) Consensus statement on management of intersex disorders. Arch Dis Child 91:554–563CrossRefPubMed

22.

Nordenskjöld A, Friedman E, Tapper-Persson M, Söderhäll C, Leviav A, Svensson J, Anvret M (1999) Screening for mutations in candidate genes for hypospadias. Urol Res 27:49–55CrossRefPubMed

23.

Holmes NM, Miller WL, Baskin LS (2004) Lack of defects in androgen production in children with hypospadias. J Clin Endcrinol Metab 89:2811–2816CrossRef

24.

Köhler B, Pienkoowski C, Audran F, Delsol M, Tauber M, Paris F, Sultan C, Lumbroso S (2004) An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects. Eur J Endocrinol 150:825–830CrossRefPubMed

25.

Van Y, Lin J, Huang S, Luo C, Hwang C, Lo FS (2003) Novel point mutations in complete androgen insensitivity syndrome with incomplete müllerian regression: two Taiwanese patients. Eur J Pediatr 162:781–784CrossRefPubMed

26.

Bertolani MF, Baroncini A, Marotti F, Scalera E (1993) Blackfan-Diamond disease with ambiguous genitalia. Pediatr Med Chir 15:589–591PubMed

27.

Bahai J, Fröjmark AS, davey EJ, Schuster J, Dahl N (2009) Ribosomal protein S19 and S24 insufficiency cause distinct cell cycle defects in Diamond-Blackfan anemia. Biochim Biophys Acta 1792:1036–1042

28.

Dianzani I, Garelli E, Ramenghi U (2000) Diamond-Blackfan Anaemia. Paediatr Drugs 2:345–355CrossRefPubMed

29.

Lux A, Kropf S, Kleinemeier E, Jürgensen M, Thyen U, DSD Network Working Group (2009) Clinical evaluation study of the German network of disorders of sex development (DSD)/intersexuality: study design, description of the study population, and data quality. BMC Public Health 9:110CrossRefPubMed

30.

Pasch A, Hoefele J, Grimminger H, Hacker HW, Hildebrandt F (2004) Multiple urinary tract malformations with likely recessive inheritance in a large Somalian kindred. Nephrol Dial Transplant 19:3172–3175CrossRefPubMed

31.

Oski FA, Naiman JL (1972) Hematologic problems in the newborn. Major Probl Clin Pediatr 4:1–400PubMed

Titel: Disorders of sex development and Diamond-Blackfan anemia: is there an association?
verfasst von: Julia Hoefele
Anne-Marie Bertrand
Maximilian Stehr
Thierry Leblanc
Gil Tchernia
Maud Simansour
Brigitte Mignot
Martin Alberer
Hans-Peter Schwarz
Lydie Da Costa
on the behalf of the SHIP
Publikationsdatum: 01.07.2010
Verlag: Springer-Verlag
Erschienen in: Pediatric Nephrology / Ausgabe 7/2010
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-010-1497-y

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