Alikasifoglu Ayfer, Gonc E Nazh, Akcoren Zuhal, Kale Gulsev, Ciftci Arbay O, Senocak M Emin, Yordam Nursen
Division of Pediatric Endocrinology, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey.
J Pediatr Endocrinol Metab. 2002 Apr;15(4):449-52. doi: 10.1515/jpem.2002.15.4.449.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the association of mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps and with an increased risk of developing gonadal sex tumors besides other malignancies. We describe a 7 1/2 year-old boy with PJS and bilateral gynecomastia. He has had buccal pigmentation since 1.5 years and had been operated for rectal polyp excision at 3.5 years. On physical examination, his height was at the 90th percentile, and his height age and bone age were 9 and 10 1/2 years, respectively. Increased melanotic buccal pigmentation of the lips and bilateral gynecomastia were noticed. Both of the testes were firm, non-tender and smooth on the surface, and each measured 8 ml. Hormonal measurements were all in the prepubertal range. Testis ultrasonography showed bilateral hyperechogenic areas within the glands. When he was operated for invagination and an ileum segment full of polyps was resected, bilateral testicular biopsies were also performed. Histopathological evaluation of the testes revealed bilateral multicentric benign Sertoli cell tumors. The aromatase inhibitor testolactone was started to slow skeletal maturation. On the basis of this and previous reports, PJS associated with sex-cord tumors is increasingly recognized in males as well as in females.
佩-吉二氏综合征（PJS）是一种常染色体显性疾病，其特征为黏膜皮肤色素沉着与多发胃肠道错构瘤性息肉相关联，除其他恶性肿瘤外，还存在发生性腺性索肿瘤的风险增加。我们描述了一名患有PJS和双侧乳腺增生的7岁半男孩。他自1.5岁起出现颊部色素沉着，3.5岁时接受了直肠息肉切除术。体格检查时，他的身高处于第90百分位，身高年龄和骨龄分别为9岁和10岁半。发现唇部有黑色素沉着增加的颊部色素沉着以及双侧乳腺增生。双侧睾丸质地坚实，无压痛，表面光滑，各测量值为8毫升。激素测量均处于青春期前范围。睾丸超声检查显示腺体内双侧高回声区。当他因肠套叠接受手术并切除充满息肉的一段回肠时，也进行了双侧睾丸活检。睾丸的组织病理学评估显示双侧多中心性良性支持细胞瘤。开始使用芳香化酶抑制剂睾内酯来减缓骨骼成熟。基于此病例及先前的报告，与性索肿瘤相关的PJS在男性和女性中越来越受到认可。
