青春期发育作为46XY完全性性腺发育不良患者性腺肿瘤的标志。

IF 1.8 4区医学 Q3 OBSTETRICS & GYNECOLOGY

Journal of pediatric and adolescent gynecology Pub Date : 2025-07-17 DOI:10.1016/j.jpag.2025.07.003

Cristina Villena, Carolyn D Brookhart, Kirsten Das, Swetha Naroji, Veronica Gomez-Lobo

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引用次数: 0

摘要

背景：46XY完全性性腺发育不良（CGD），也称为Swyer综合征，以性腺无功能条纹和性腺肿瘤风险增加为特征。虽然自发性的青春期是不可预期的，但激素活跃的性腺肿瘤可以模仿正常的青春期延迟诊断。病例介绍：我们报告了两名患有46XY CGD和肿瘤驱动性青春期的青少年：一名16岁的自发性卵巢囊肿和肾上腺增生伴左侧性腺母细胞瘤，一名14岁的自发性月经初潮和骨盆疼痛，被诊断为生殖细胞异常瘤和性索肿瘤伴环状小管（SCTAT）。讨论与结论：46XY型CGD患者的青春期应引起对性腺肿瘤的怀疑。早期识别和性腺切除术是预防恶性转化和优化结果的关键。

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Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis.

Background: 46XY Complete Gonadal Dysgenesis (CGD), also known as Swyer syndrome, is characterized by nonfunctional streak gonads and an increased risk of gonadal neoplasms. While spontaneous puberty is not expected, hormonally active gonadal tumors can mimic normal puberty delaying diagnosis.

Case presentation: We present two adolescents with 46XY CGD and tumor-driven puberty: a 16-year-old with spontaneous thelarche and adrenarche with a left gonadoblastoma, and a 14-year-old with spontaneous menarche and pelvic pain who was diagnosed with a dysgerminoma and a sex cord tumor with annular tubules (SCTAT).

Discussion & conclusion: Puberty in patients with 46XY CGD should prompt suspicion for gonadal tumors. Early recognition and gonadectomy are crucial to prevent malignant transformation and optimize outcomes.

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来源期刊

Journal of pediatric and adolescent gynecology 医学-妇产科学

CiteScore

3.90

自引率

11.10%

发文量

251

审稿时长

57 days

期刊介绍： Journal of Pediatric and Adolescent Gynecology includes all aspects of clinical and basic science research in pediatric and adolescent gynecology. The Journal draws on expertise from a variety of disciplines including pediatrics, obstetrics and gynecology, reproduction and gynecology, reproductive and pediatric endocrinology, genetics, and molecular biology. The Journal of Pediatric and Adolescent Gynecology features original studies, review articles, book and literature reviews, letters to the editor, and communications in brief. It is an essential resource for the libraries of OB/GYN specialists, as well as pediatricians and primary care physicians.