Two siblings with 46,XY DSD, congenital adrenal hypoplasia, aniridia, craniofacial, and skeletal abnormalities and intrauterine growth retardation: A new syndrome?

American Journal of Medical Genetics, Part A

Volumn 143, Issue 18, 2007, Pages 2085-2088

  Coman, David J ^a,b   White, Susan M ^a,b   Amor, David J ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

46,XY DSD; Aniridia; Congenital adrenal hypoplasia; Intrauterine growth retardation; Skeletal abnormalities

Indexed keywords

ADRENAL INSUFFICIENCY; ANIRIDIA; ARTICLE; BONE; CASE REPORT; CONGENITAL MALFORMATION; FACE; GENETICS; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPING; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; SKULL; SYNDROME;

ABNORMALITIES, MULTIPLE; ADRENAL INSUFFICIENCY; ANIRIDIA; BONE AND BONES; FACE; FETAL GROWTH RETARDATION; HUMANS; INFANT, NEWBORN; KARYOTYPING; MALE; SKULL; SYNDROME;

EID: 38449111238     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31894     Document Type: Article

References (14)

1. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M, Zuffardi O, Camerino G. 1994. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7: 497-501.
2. Bose HS, Sugawara T, Strauss JF III, Miller WL. 1996. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. N Engl J Med 335:1870- 1878.
3. Flejter WL, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S. 1998. A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9 S1779. Am J Hum Genet 63:794-802.
4. Guioli S, Schmitt K, Critcher R, Bouzyk M, Spurr NK, Ogata T, Hoo JJ, Pinsky L, Gimelli G, Pasztor L, Goodfellow PN. 1998. Molecular analysis of 9p deletions associated with XY sex reversal: Refining the localization of a sex-determining gene to the tip of the chromosome. Am J Hum Genet 63:905- 908.
5. Hiort O, Holterhus PM, Werner R, Marschke C, Hoppe U, Partsch CJ, Riepe FG, Achermann JC, Struve D. 2005. Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure. J Clin Endocrinol Metab 90:538- 541.
6. Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, Jabs EW, Van Vliet G, Sack J, Fluck CE, Miller WL. 2005. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet 76:729- 749.
7. Hughes IA, Houk C, Ahmed SF, Lee PA. 2006. Consensus statement on management of intersex disorders. Arch Dis Child 91:554-563.
8. Kelley RI, Hennekam RC. 2000. The Smith-Lemli-Opitz syndrome. J Med Genet 37:321-335.
9. Shackleton C, Marcos J, Malunowicz EM, Szarras-Czapnik M, Jira P, Taylor NF, Murphy N, Crushell E, Gottschalk M, Hauffa B, Cragun DL, Hopkin RJ, Adachi M, Arlt W. 2004. Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. Am J Med Genet Part A 128A:223-231.
10. Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R. 2006. Two sisters with IMAGe syndrome: Cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. Am J Med Genet Part A 140A:1778-1784.
11. Veitia RA, Nunes M, Quintana-Murci L, Rappaport R, Thibaud E, Jaubert F, Fellous M, McElreavey K, Goncalves J, Silva M, Rodrigues JC, Caspurro M, Boieiro F, Marques R, Lavinha J. 1998. Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. Am J Hum Genet 63:901-905.
12. Walker AP, Chelly J, Love DR, Brush YI, Recan D, Chaussain JL, Oley CA, Connor JM, Yates J, Price DA, Super M, Bottani A, Steinman B, Kaplan JC, Davies KE, Monaco AP. 1992. A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes. Hum Mol Genet 1:579- 585.
13. Weiss L, Mellinger RC. 1970. Congenital adrenal hypoplasia-an X-linked disease. J Med Genet 7:27-32.
14. Worley KC, Ellison KA, Zhang YH, Wang DF, Mason J, Roth EJ, Adams V, Fogt DD, Zhu XM, Towbin JA, Chinault AC, Zoghbi H, McCabe ERB. 1993. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics 16:407-416.