Diamond F B, Root A W, Hoover D L, Monteforte H
Department of Pediatrics, University of South Florida College of Medicine, Tampa, USA.
J Pediatr Endocrinol Metab. 1996 May-Jun;9(3):407-14. doi: 10.1515/jpem.1996.9.3.407.
Enlargement of the right breast, axillary hair, and acceleration of linear growth rate were first noted at 8 years of age in an otherwise healthy male with no known exposure to exogenous hormones. At 9.5 years of age the right subareolar mass was excised; histologic examination revealed fibrous breast tissue. Subsequently pubic hair appeared. At 10.7 years of age, the patient complained of right inguinal pain after a minor injury. Examination revealed a tall (height age 12.7 years), mature, muscular boy with enlarged (R: 5 x 3 x 2 cm; L: 3 x 2 x 3 cm) firm, irregular testes, Tanner stage II pubic hair, and modest axillary hair. No perioral pigmentation was present. Testicular ultrasonography revealed multilobular echogenic foci with calcifications. Bone age was 13 years, the LH and FSH secretory responses to GnRH were minimal (LH: < 0.038-->0.28 mIU/ml; FSH: < 0.063-->0.11 mIU/ml), and basal serum testosterone (< 10 ng/dl) and estradiol (< 10 pg/ml) values were undetectable. Following administration of human chorionic gonadotropin (hCG), the serum testosterone concentration increased to 275 ng/dl, while estradiol remained unmeasurable. Spermatic vein concentrations of testosterone were undetectable in the basal state and increased after hCG administration. After bilateral orchiectomy, pathologic examination revealed multifocal tumors composed of brightly eosinophilic, large polygonal cells arranged in nests, cords, and clusters within dense connective tissue or mucinous stroma with lamellar calcifications of varying sizes. These pathologic findings were compatible with a large cell calcifying Sertoli cell (sex-cord)tumor of the testes. Testosterone, estradiol, immunoreactive and bioactive aromatase activity were not detectable in the tumor. Thus, both heterosexual (gynecomastia) and isosexual (increased musculature, pubic and axillary hair) precocious puberty may occur in boys with testicular sex-cord tumors.
一名原本健康、无已知外源性激素接触史的男性，8岁时首次发现右乳增大、腋毛生长以及线性生长速度加快。9.5岁时切除右乳晕下肿物；组织学检查显示为纤维性乳腺组织。随后出现阴毛。10.7岁时，患者在轻微受伤后诉说右腹股沟疼痛。检查发现是一名身材高大（身高年龄12.7岁）、成熟、肌肉发达的男孩，其睾丸增大（右侧：5×3×2厘米；左侧：3×2×3厘米）、质地坚实、形状不规则，阴毛为 Tanner Ⅱ期，腋毛适度。无口周色素沉着。睾丸超声检查显示多小叶状回声灶伴钙化。骨龄为13岁，促性腺激素释放激素（GnRH）刺激后促黄体生成素（LH）和促卵泡生成素（FSH）分泌反应极小（LH：<0.038→0.28 mIU/ml；FSH：<0.063→0.11 mIU/ml），基础血清睾酮（<10 ng/dl）和雌二醇（<10 pg/ml）值无法检测到。给予人绒毛膜促性腺激素（hCG）后，血清睾酮浓度升至275 ng/dl，而雌二醇仍无法测量。基础状态下精索静脉睾酮浓度无法检测到，hCG给药后升高。双侧睾丸切除术后，病理检查显示多灶性肿瘤，由密集结缔组织或黏液性基质内呈巢状、条索状和团簇状排列的嗜酸性大多边形细胞组成，伴有大小不一的板层状钙化。这些病理表现符合睾丸大细胞钙化性支持细胞（性索）肿瘤。肿瘤中未检测到睾酮、雌二醇、免疫反应性和生物活性芳香化酶活性。因此，患有睾丸性索肿瘤的男孩可能出现异性性早熟（男性乳房发育）和同性性早熟（肌肉组织增加、阴毛和腋毛增多）。
