Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SUN 596-623-Case Reports: Pediatric Endocrinology & Metabolism
Sunday, June 16, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SUN-605
Verónica Figueroa Gacitúa*1, Mariela Colantonio2, Amanda Benitez3, Mercedes Orellano1 and Oscar Hector Brunetto4
1Children´s Hospital Pedro de Elizalde, Buenos Aires, Argentina, 2Children´s Hospital Pedro de Elizalde, Argentina, 3Children´s Hospital Juan Pablo II, Corrientes, Argentina, 4Pedro de Elizalde Children's Hos, Buenos Aires, Argentina
Introduction: Peutz Jeghers Syndrome (PJS) is a rare autosomic disorder characterized by gastrointestinal polyps, mucocutaneous pigmentation and neoplasms predisposition. Gynecomastia due to Large-cell calcifying Sertolli cell tumor (LCCSCT) or Intratubular Sertolli cell proliferations (ISCPs) is a rare endocrine manifestation in male patients with PJS. AMH is a marker of Sertoli cell function. Treatment with anastrazole has been shown to be effective reducing gynecomastia and preventing further bone age advancement. We report the case of a 7 year old boy who was treated with anastrazole because of gynecomastia secondary to ISCPs

Clinical Case: A 7,66 years old boy was referred because of gynecomastia and enlarged testes. At physical examination he presented mucocutaneous pigmented macules on the lips and buccal mucosa, bilateral gynecomastia (7 cm of diameter) and testes of 6 cc with normal palpation. Height was 136,5 cm (+2 DS above target height). Workup revealed advanced bone age (10,75 years), Laboratory studies showed slightly elevated testosterone (T:20.3 ng/dl) and estradiol (E:30.8 pg/ml), LH was <0.1 mIU/ml, FSH was 0.2 mIU/ml, and AMH was 1621 pmol/l (RV:321-1218). Testicular ultrasound showed multiple, dot-like calcifications in both testes, with an anechoic area (3mm) in the right testis. Testicular biopsy was performed and microscopic examination showed ISCPs. Given the diagnosis of PJS and gynecomastia due to aromatase overexpresion from Sertoli cells, treatment with anastrazole was started with a dose of 1 mg per day. Treatment was well tolerated and after 18 months a reduction of the gynecomastia and an improvement of height prognosis were noted. Currently he is 9,25 years old, his height is 142 cm, gynecomastia was reduced to 4 cm in diameter, and testes remained 6cc. Bone age is 11 years, FSH and LH remained low (0,19 and 0,16 mIU/ml respectivelly) with E levels < 20 pg/ml. AMH levels dropped to normal values (864 pmol/l) and lumbar spine DMO Z score is 0,531 g/cm2 (– 1SD).

Conclusions: Treatment with anastrazole showed to be effective in reducing the gynecomastia, as well as slowing bone age and growth acceleration secondary to E overproduction due to ISCPs. Normalization of AMH could be a good indicator of disease control, as may be an indirect sign of reduced E/T ratio with more intratesticular testosterone that inhibit AMH secretion. Long term follow up will demonstrate true effect in final height.

Venara M et al, Am J Surg Pathol, 25(10), 2001. Sertoli Cell Proliferations of the Infantile Testis. An Intratubular Form of Sertoli Cell Tumor? Lefevre H et al, European Journal of Endocrinology, 2006 (154)

Nothing to Disclose: VF, MC, AB, MO, OHB

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