VATER association was first described in 1968 by Say and Gerald and is an association of congenital anomalies including V (vertebral defect), A (anal atresia), TE (tracheoesophegeal fistula), and R (radial dysplasia and renal defects). This report described a 26 year-old man with VATER association presented with infertility. Hormone tests including follicular stimulating hormone, luteinizing hormone and testosterone were normal. Semen analysis showed azoospermia. A testicular biopsy was performed and showed the presence of all of germinative components, germ cell sloughing, and mild hypospermatogenesis. The findings were compatible with obstructive azoospermia. No evidence of intratubular germ cell neoplasia unclassified was identified.
M. J. Khoury, J. F. Cordero, F. Greenberg, L. M. James and J. D. Erickson, “A Population Study of the VACTERL Association: Evidence for Its Etiologic Heterogeneity,” Pediatrics, Vol. 71, No. 5, 1983, pp. 815-820.
L. Quan and D. W. Smith, “The VATER Association. Vertebral Defects, Anal Atresia, T-E Fistula with Esophageal Atresia, Radial and Renal Dysplasia: A Spectrum of Associated Defects,” Journal of Pediatrics, Vol. 82, No. 1, 1973, pp. 104-107.
L. D. Botto, M. J. Khoury, P. Mastroiacovo, E. E. Castilla, C. A. Moore, R. Skjaerven, O. M. Mutchinick, B. Borman, G. Cocchi, A. E. Czeizel, et al., “The Spectrum of Congenital Anomalies of the VATER Association: An International Study,” American Journal of Medical Genetics, Vol. 71, No. 1, 1997, pp. 8-15.
W. Reardon, X. P. Zhou and C. Eng, “A Novel Germline Mutation of the PTEN Gene in a Patient with Macrocephaly, Ventricular Dilatation, and Features of VATER Association,” Journal of Medical Genetics, Vol. 38, No. 12, 2001, pp. 820-823.
S. L. King, R. L. Ladda and S. J. Shochat, “Monozygotic Twins Concordant for Tracheo-Esophageal Fistula and Discordant for the VATER Association,” Acta Paediatrica Scandinavica, Vol. 66, No. 6, 1977, pp. 783-785.