Metwalley Kotb Abbass, Elsers Dalia Ahmed, Farghaly Hekma Saad, Abdel-Lateif Hanaa, Abdel-Kader Mohamed
Paediatric Endocrinology Unit, Department of Paediatrics, Faculty of Medicine, Assiut University, Assiut, Egypt.
J Med Case Rep. 2012 Jun 26;6:162. doi: 10.1186/1752-1947-6-162.
Ovarian tumors are the least common cause of sexual precocity in girls. Mixed germ cell-sex cord-stromal tumors associated with a yolk sac tumor of the ovary are rare neoplasms, of which only a small number of well-documented cases have been described so far. Here, we report precocious puberty in a four-year-old Egyptian girl caused by a mixed germ cell-sex cord-stromal tumor associated with a yolk sac tumor of the ovary.
A four-year-old Egyptian girl was referred to our pediatric endocrinology unit for evaluation of bilateral breast budding, pubic hair and vaginal bleeding. On examination, we found that her breast enlargement and pubic hair were compatible with Tanner III. A thorough workup revealed a large mass in her right ovary. Magnetic resonance imaging ofher brain showed that her pituitary gland was normal. A hormonal assay revealed high levels of estradiol, 280 to 375pmol/L; progesterone, 5.3 nmol/L; testosterone 38.9 pg/mL; and androstenedione, 4.1 ng/mL. Her basal and stimulated levels of luteinizing hormone and follicle-stimulating hormone were low. Tumor markers levels were high, with a total inhibin of 1,069U/L and an alpha-fetoprotein of 987 μg/L. Her chromosomes were normal (46XX). Our patient underwent an explorative laparotomy and a solid tumor localized to her right ovary was identified. A right salpingo-oophorectomy was performed and the histopathological diagnosis was a mixed germ cell-sex cord-stromal tumorwith a yolk sac tumor of the ovary. Postoperatively, she was started on treatment with chemotherapy. Our patient is doing well without evidence of tumor recurrence or metastasis during eight months of postoperative follow-up.
Although a mixed germ cell-sex cord-stromal tumor associated with a yolk sac tumor of the ovary is a rare occurrence, it should be considered in the differential diagnosis for a prepubescent girl with an abdominal mass and precocious puberty.
卵巢肿瘤是女孩性早熟最不常见的原因。与卵巢卵黄囊瘤相关的混合性生殖细胞-性索间质肿瘤是罕见的肿瘤，迄今为止仅有少数详细记录的病例被描述。在此，我们报告一名4岁埃及女孩因与卵巢卵黄囊瘤相关的混合性生殖细胞-性索间质肿瘤导致性早熟。
一名4岁埃及女孩因双侧乳房发育、阴毛生长和阴道出血被转诊至我们的儿科内分泌科进行评估。检查发现，她的乳房增大和阴毛生长符合坦纳Ⅲ期。全面检查发现她右侧卵巢有一个大肿块。脑部磁共振成像显示她的垂体正常。激素检测显示雌二醇水平高，为280至375pmol/L；孕酮为5.3nmol/L；睾酮为38.9pg/mL；雄烯二酮为4.1ng/mL。她的促黄体生成素和促卵泡生成素的基础水平和刺激后水平较低。肿瘤标志物水平较高，总抑制素为1069U/L，甲胎蛋白为987μg/L。她的染色体正常（46XX）。我们的患者接受了剖腹探查术，发现一个实性肿瘤位于她的右侧卵巢。进行了右侧输卵管卵巢切除术，组织病理学诊断为与卵巢卵黄囊瘤相关的混合性生殖细胞-性索间质肿瘤。术后，她开始接受化疗。在术后八个月的随访中，我们的患者情况良好，没有肿瘤复发或转移的迹象。
尽管与卵巢卵黄囊瘤相关的混合性生殖细胞-性索间质肿瘤很少见，但对于有腹部肿块和性早熟的青春期前女孩，在鉴别诊断中应考虑到这种情况。
