Denys Drash Syndrome (DDS) is a rare combination of genital and urinary anomalies that are mostly associated with malignancy. We report 2 patients who presented with genital ambiguity and were diagnosed as 46-XY DDS. During the discussion of the management plan, parents preferred to keep the gonads to preserve its endocrinal function for future sexual development. However, both patients developed primary hypogonadism at puberty and required testosterone supplementation. Persevering gonads in such patients had no endocrinal benefits but put the patients at risk of malignant transformation.

1.
Denys P, Malvaux P, Van Den Berghe H, et al: [Association of an anatomo-pathological syndrome of male pseudohermaphroditism, Wilms’ tumor, parenchymatous nephropathy and XX/XY mosaicism]. Arch Fr Pediatr 1967; 24: 729–739.
2.
Drash A, Sherman F, Hartmann WH, et al: A syndrome of pseudohermaphroditism, Wilms’ tumor, hypertension, and degenerative renal disease. J Pediatr 1970; 76: 585–593.
3.
Mueller RF: The Denys-Drash syndrome. J Med Genet 1994; 31: 471–477.
4.
Lee PA, Houk CP, Ahmed SF, et al: Consensus statement on management of intersex disorders. International consensus conference on intersex. Pediatrics 2006; 118:e488–e500.
5.
Skakkebaek NE, Rajpert-De Meyts E, Main KM: Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod 2001; 16: 972–978.
6.
Mendonca BB, Domenice S, Arnhold IJ, et al: 46,XY disorders of sex development (DSD). Clin Endocrinol (Oxf) 2009; 70: 173–187.
7.
Eddy AA, Mauer SM: Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): frequency in end-stage renal failure. J Pediatr 1985; 106: 584–587.
8.
Manivel JC, Sibley RK, Dehner LP: Complete and incomplete Drash syndrome: a clinicopathologic study of five cases of a dysontogenetic-neoplastic complex. Hum Pathol 1987; 18: 80–89.
9.
Jadresic L, Leake J, Gordon I, et al: Clinicopathologic review of twelve children with nephropathy, Wilms tumor, and genital abnormalities (Drash syndrome). J Pediatr 1990; 117: 717–725.
10.
Pelletier J, Bruening W, Kashtan CE, et al: Germline mutations in the Wilms’ tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 1991; 67: 437–447.
11.
Auber F, Jeanpierre C, Denamur E, et al: Management of Wilms tumors in Drash and Frasier syndromes. Pediatr Blood Cancer 2009; 52: 55–59.
12.
Patel PR, Pappas J, Arva NC, et al: Early -presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy. J Pediatr Endocrinol Metab 2013; 26: 971–974.
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