Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome

Abstract

Objective

To summarize the clinical characteristics of Turner syndrome (TS) with a small supernumerary marker chromosome (sSMC) and discuss the clinical significance and management of TS patients with sSMC.

Methods

A retrospective analysis was conducted on the clinical data of 244 patients with disorders of sexual development admitted to Peking Union Medical College Hospital from February 1984 to July 2020.

Results

Among the 244 patients with a disorder of sexual development, 69 cases of TS were identified in which 13 patients had sSMC. Their ages ranged from 3 to 28 years old with an average of 14.31 ± 6.40 years. All 13 sSMC-positive patients had typical clinical manifestations of TS except ambiguous genitalia in four cases. SRY gene testing was performed in 11sSMC-positive patients and 10 patients were positive for SRY and one was negative. Among the 10 SRY-positive patients, two cases had hirsutism and clitoral enlargement and two cases had clitoral enlargement only. Nine sSMC and SRY-positive patients underwent gonadectomy and one had left gonadal gonadoblastoma with seminoma in situ and right gonadal seminoma in situ.

Conclusions

Although the sSMC positive detection rate in DSD patients is uncommon (5.33% in our sample), the positive SRY detection rate in sSMC-positive TS patients was extremely high in our TS patients. And TS patients with sSMC and SRY positive had a significantly increased risk of gonadal germ cell tumors. Routine SRY screening should be performed in TS patients with sSMC, and a gonadectomy should be performed in TS patients with sSMC and SRY positive to prevent the occurrence of tumors.

有额外小标记染色体的Turner患者的临床特点及管理 摘要

目标：总结有额外小标记染色体(sSMC)的Turner综合征(TS)的临床特点, 并探讨有sSMC的TS患者的临床意义及管理。

方法：对1984年2月至2020年7月就诊于北京协和医院的244例性发育障碍患者的临床资料进行回顾性分析。

结果：在244例性发育障碍患者中, 共确诊TS 69例, 其中13例有sSMC。年龄3∼28岁, 平均年龄14.31±6.40岁。除了四例患者有两性畸形外, 所有13例sSMC阳性患者都具有TS典型的临床表现。11例sSMC阳性患者进行了SRY（性别）基因检测, 其中10名患者为SRY阳性, 一名为阴性。在10例SRY阳性患者中, 2例有多毛和阴蒂增大, 2例仅有阴蒂增大。9例sSMC和SRY阳性的患者接受了性腺切除术, 其中1例为左侧性腺胚细胞瘤合并原位精原细胞瘤, 右侧性腺原位精原细胞瘤。

结论：虽然sSMC阳性检出率在DSD（性发育障碍）患者中并不常见(在我们的样本中为5.33%), 但在sSMC阳性的TS患者中SRY阳性检出率非常高。sSMC和SRY阳性的TS患者发生性腺生殖细胞肿瘤的风险显著增加。对合并sSMC的TS患者应常规进行SRY筛查, 对sSMC和SRY阳性的TS患者应行性腺切除术, 以防止肿瘤的发生。

Keywords:

• Disorders of sexual development (DSD)
• Turner Syndrome (TS)
• +mar
• small supernumerary marker chromosome (sSMC)

Disclosure statement

All authors declare that they have no conflicts of interest to disclose.

Additional information

Funding

This work was supported by the National Natural Science Foundation of China under Grant number [81671424]. Project Name: Study on Sexual Dysplasia of Gonad and Operative Timing.