Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome. (3rd August 2021)

• Record Type: Journal Article
• Authors: Chen, Jie; Guo, Miao; Luo, Min; Deng, Shan; Tian, Qinjie
• Is Part Of: Gynecological endocrinology. Volume 37:Number 8(2021)
• Page Start: 730
• Page End: 734
• Publication Date: 2021-08-03
• Subjects: Disorders of sexual development (DSD) -- Turner Syndrome (TS) -- +mar -- small supernumerary marker chromosome (sSMC); Endocrine gynecology -- Periodicals; Generative organs, Female -- Diseases -- Periodicals; 618.1
• DOI: 10.1080/09513590.2021.1911992
• Languages: English
• ISSNs: 0951-3590

Abstract

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.