TUMORS OF THE ADRENOGENITAL SYNDROME: AN AGGRESSIVE CONSERVATIVE APPROACH

Abstract

Purpose Testicular masses in male individuals with the adrenogenital syndrome are a clinical and pathological diagnostic dilemma. The major differential diagnosis of gonadal nodules in this setting includes interstitial Leydig cell tumors and secondary benign tumors of possible adrenal rest origin. Management of these 2 entities obviously differs. We report clinical, biochemical and pathological features in 3 children with rare bilateral testicular masses and the adrenogenital syndrome in an attempt to define better the natural history of these entities and formulate recommendations for management. Materials and Methods All 3 patients had a history of precocious puberty. Two boys were diagnosed with the adrenogenital syndrome at birth, and presented with bilateral testicular masses at ages 5 and 17 years, respectively. The remaining patient was diagnosed at age 15 years after testicular and adrenal masses developed. All 3 cases were classified as 21-hydroxylase deficiency with markedly elevated levels of 17-hydroxyprogesterone, dehydroepiandrosterone, adrenocorticotropic hormone and androstenedione. Testosterone levels were mildly elevated above normal age matched values. Testicular biopsies were done in each case. Results Two cases were initially interpreted as bilateral Leydig cell tumors but they were histologically reclassified as tumors of the adrenogenital syndrome. The case was diagnosed as interstitial cell hyperplasia. Although corticosteroid therapy corrected each steroid abnormality, in no case did tumors resolve, but there was gradual regression in 1. Each patient has been followed conservatively for 4 years. There has been no increase in tumor size or evidence of metastatic disease. Conclusions Bilateral testicular masses in children with the adrenogenital syndrome may mimic Leydig cell tumors, which also commonly cause precocious puberty. Orchiectomy for Leydig cell tumors in boys with precocious puberty is contraindicated without a complete endocrinological profile. When congenital adrenal hyperplasia is diagnosed, these tumors appear to be derived from cells of possible adrenal origin stimulated by adrenocorticotropic hormone and they may be followed conservatively.