Session: SUN 596-623-Case Reports: Pediatric Endocrinology & Metabolism
Poster Board SUN-605
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.
Nothing to Disclose: VF, MC, AB, MO, OHB
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