Noonan's Syndrome and Seminoma of Undescended Testicle

South Med J. 2001;94(4) 

In This Article

Abstract and Introduction

A 26-year-old white man with Noonan's syndrome and a history of lifetime lymphedema had had bilateral orchiopexy for undescended testicles at the age of 12. He noticed increased swelling of the right testicle confirmed by ultrasonography as a solid mass. Computed tomography of the abdomen and pelvis showed multiple enlarged mesenteric and retroperitoneal lymph nodes. At right inguinal orchiectomy, pathologic findings were consistent with seminoma of the right testicle. Postoperatively, he was treated with four cycles of cisplatin and etoposide. A case of nonseminoma in Noonan's syndrome has been reported previously, but this is first case report of seminoma in a patient with Noonan's syndrome.

Noonan's syndrome, first described in 1963, is characterized by small stature, hypertelorism, and mild mental retardation and in some instances by ptosis, undescended testis, and skeletal and cardiac malformations. Noonan's syndrome does not have a molecular or cell/ biochemical marker, and diagnosis is made clinically. Anecdotal reports link the syndrome to acute leukemias, myelodysplastic syndrome, and myeloproliferative disorders. The relationship between crypto-orchidism and testicular cancer has been recognized and studied extensively. There is a single report of nonseminoma in a patient with Noonan's syndrome. Herein, we present the first case report of seminoma in a patient with Noonan's syndrome.

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