Session: SUN 524-553-Male Reproductive Endocrinology
Bench to Bedside
Poster Board SUN-530
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
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