Tanaka Katsunori, Tagaya Midori
Department of Pediatrics, National Hospital Organization Higashi-Ohmi General Medical Center, Higashiomi, JPN.
Cureus. 2025 Mar 5;17(3):e80107. doi: 10.7759/cureus.80107. eCollection 2025 Mar.
Turner syndrome (TS) is a chromosomal disorder characterized by short stature and gonadal dysgenesis. However, precocious puberty is rarely observed in TS, and its optimal management remains unclear. We report a case of a 10-year-old girl with TS and a 45,X/46,XX mosaic karyotype who presented with menarche. She had been receiving growth hormone (GH) therapy since the age of four years and six months. Laboratory and imaging findings confirmed central precocious puberty (CPP), and gonadotropin-releasing hormone analog (GnRHa) therapy was introduced alongside GH therapy. Treatment with GnRHa continued until 11 years and 11 months, while GH therapy was maintained until 14 years and 11 months. The patient ultimately achieved a final height of 140.0 cm (-3.3 SD), within the target height range. This case highlights the rare occurrence of CPP in TS and demonstrates the potential impact of combined GH and GnRHa therapy on growth outcomes. Further studies are needed to establish the optimal treatment strategies, including the appropriate timing and duration of therapy for TS patients with CPP.
特纳综合征（TS）是一种以身材矮小和性腺发育不全为特征的染色体疾病。然而，TS患者很少出现性早熟，其最佳治疗方法仍不明确。我们报告一例10岁患有TS且核型为45,X/46,XX嵌合体的女孩出现月经初潮。她从4岁6个月起就开始接受生长激素（GH）治疗。实验室和影像学检查结果证实为中枢性性早熟（CPP），于是在GH治疗的同时引入促性腺激素释放激素类似物（GnRHa）治疗。GnRHa治疗持续至11岁11个月，而GH治疗维持至14岁11个月。患者最终身高达到140.0厘米（-3.3标准差），在目标身高范围内。该病例突出了TS患者中CPP的罕见情况，并证明了GH和GnRHa联合治疗对生长结果的潜在影响。需要进一步研究以确立最佳治疗策略，包括为患有CPP的TS患者确定合适的治疗时机和疗程。
