Testicular Tumors in Children and Young Adults Presenting With a Known Genetic Syndrome Are Rarely Malignant But Require Follow-Up and Occasionally Medical Treatment: The National Institutes of Health 35-Year-Long Experience

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 524-553-Male Reproductive Endocrinology
Bench to Bedside
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-530
Maya Beth Lodish*1, Evgenia Gourgari1, Dalia L Batista2, Charalampos Lyssikatos1, Melissa Katherine Crocker3, Radha Nandagopal1, Alison Marie Boyce1, Suzanne Collier1, Ellen Werber Leschek4, Deborah P. Merke1, Michael T Collins1, J Aidan Carney5 and Constantine A Stratakis1
1NIH, 2Brown University, Providence, RI, 3Children's Hospital Boston, Boston, MA, 4NIH, Bethesda, MD, 5Mayo Clinic, Rochester, MN
Introduction: Recognition of benign testicular lesions in males is important in order to avoid unnecessary surgery. However, little is known about the natural history of pediatric testicular tumors due to their rarity.

Methods: Data from males presenting to the NIH between 1978-2012 with congenital adrenal hyperplasia (CAH), Carney complex (CNC), familial male precocious puberty (FMPP), McCune Albright syndrome (MAS) and Peutz-Jeghers syndrome (PJS) were retrospectively collected. Age at initial evaluation, testicular ultrasound (US) findings, genotype, and pathology from biopsy or orchiectomy were analyzed. Data are presented as mean ± SD.

Results: 193 patients presenting during childhood were studied; the age at evaluation was 6.7±3.8 y; length of follow-up was 6.1±5.9 y. 52 adults were studied; the age at evaluation was 41.2±12.7 y; follow-up was 2.2±3.2 y. 30% (26/88) of children and 36% (5/14) adults with CAH developed testicular adrenal rest tissue (TART). 57% (12/21) of children and 76 % (13/17) of adults with CNC had calcification on US, consistent with large cell calcifying Sertoli cell tumor (LCCST). 11% (4/36) of children with FMPP had testicular abnormalities including solid lesions and calcifications. 81% (44/54) of patients with MAS had US abnormalities including hyperechoic lesions (49%), hypoechoic lesions (30%), microlithiasis (30%), heterogeneity (47%), and focal calcifications (11%). 81% (9/11) of children and 75 % (3/4) adults with PJS developed testicular calcifications. In CAH, 1 orchiectomy was consistent with Leydig cell hyperplasia (LCH). 5 patients with CNC underwent orchiectomy because of the fear vs. suspicion of malignancy; all had benign LCCSCT. In FMPP, 1 testicular biopsy showed LCH. In MAS, 4 biopsies and 8 orchiectomies all were consistent with LCH. 1 PJS patient underwent orchiectomy, also because of fear of malignancy for what proved to be a benign LCCSCT. Mutations in the responsible genes were identified in up to 2/3 of all subjects. Certain patients received aromatase inhibitor therapy for gynecomastia.

Conclusion: 15 patients (6 children and 9 adults) underwent orchiectomy for benign lesions. Our results show that intra-testicular lesions are likely to be benign in individuals with CAH, CNC, FMPP, MAS and PJS. Most lesions were diagnosed on routine US. Surveillance with follow-up US is indicated for the low risk lesions and medical therapy as indicated; genetic counseling and appropriate treatments were offered for mutations and associated syndromic lesions. Orchiectomy and testicular biopsy are rarely necessary in these patients.

Disclosure: DPM: Clinical Researcher, Diurnal. Nothing to Disclose: MBL, EG, DLB, CL, MKC, RN, AMB, SC, EWL, MTC, JAC, CAS

*Please take note of The Endocrine Society's News Embargo Policy at http://www.endo-society.org/endo2013/media.cfm

Sources of Research Support: This work was supported by the Intramural Research Division of the Eunice Kennedy Shriver National Institute of Health and Human Development