Testicular “Tumor” of Adrenogenital Syndrome



Testicular “Tumor” of Adrenogenital Syndrome


Steven S. Shen, MD, PhD

Jae Y. Ro, MD, PhD





Key Facts


Terminology



  • Benign bilateral testicular tumor in patients with congenital adrenal hyperplasia leading to growth of adrenal-like cells in testis that resembles Leydig cell tumor


Clinical Issues



  • Age: Children to early adult (average: 22.5 years)


  • Presentation



    • Bilateral orchialgia (92%)


    • Testicular masses (2/3 palpable)


  • Exogenous high-dose corticosteroids are standard medical treatment (pain control, regression of tumor)


Macroscopic Features



  • Well-circumscribed but not encapsulated, dark brown, lobulated mass with fibrous septa


  • Often bilateral (83%), frequently multiple nodules


Microscopic Pathology



  • Sheets, nests, cords, nodules, or diffuse proliferation of large cells separated by band of fibrous tissue


  • Polyhedral or polygonal cells resembling Leydig cells


  • Abundant eosinophilic cytoplasm with lipofuscin pigment


  • Centrally located nuclei and prominent nucleoli


  • Frequent nuclear pleomorphism, but no or rare mitoses


  • Lack of Reinke crystalloid material


Ancillary Tests



  • Positive for vimentin, inhibin, Melan-A(MART-1), and synaptophysin







TTAGS shows a well-circumscribed nodule composed of cells with abundant eosinophilic cytoplasm similar to that of a Leydig cell tumor. (Courtesy R. H. Young, MD.)






This TTAGS is composed of large polygonal cells with abundant eosinophilic cytoplasm. Random cells show nuclear pleomorphism image. Multifocality and bilaterality are common. (Courtesy R. H. Young, MD.)


TERMINOLOGY


Abbreviations



  • Testicular “tumor” of adrenogenital syndrome (TTAGS)


Synonyms



  • Congenital adrenal hyperplasia


Definitions



  • Benign bilateral testicular lesions in patients with congenital adrenal hyperplasia leading to growth of adrenal-like cells in testis that resemble Leydig cell tumor


  • Bilaterality, multifocality, and response to medical treatment argue against this being a neoplastic lesion


ETIOLOGY/PATHOGENESIS


Developmental Anomaly



  • 21-hydroxylase deficiency (most common)


  • Other associated conditions



    • 11-hydroxylase deficiency


    • Cushing disease


    • Addison disease


    • Idiopathic enzyme defect


  • Cellular origin uncertain; hilar pluripotential cells, adrenal cortical rest cells, Leydig cells are possible candidates


CLINICAL ISSUES


Epidemiology



  • Incidence



    • Rare; a few dozen cases reported


  • Age



    • Children to early adult (average: 22.5 years)


Presentation



  • Bilateral orchialgia (92%)


  • Testicular masses (2/3 palpable)


  • Symptoms related to steroid hormone deficiency



    • Salt-losing form of adrenal disorder in 2/3 and non-salt-losing form in 1/3


  • Isosexual precocious puberty


Laboratory Tests



  • Steroid hormone evaluation (increased ACTH)


  • Tumor markers (AFP, hCG, LDH) to exclude possible germ cell tumor


Treatment



  • Drugs



    • Exogenous high-dose corticosteroids are mainstay of medical treatment (pain control and regression of tumor)


  • Surgical approaches



    • Tumor enucleation or partial orchiectomy for persistently painful masses and steroid unresponsive lesions in setting of bilaterality


    • Radical orchiectomy is generally not indicated


Prognosis



  • Benign lesion, symptoms relieved by steroid therapy or surgery


  • Very rarely associated with seminoma, and 1 reported case of malignant transformation


IMAGE FINDINGS


Ultrasonographic Findings

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Jul 7, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Testicular “Tumor” of Adrenogenital Syndrome

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