The Cut-Off Value of Serum Anti-Müllerian Hormone Levels for the Diagnosis of Turner Syndrome with Spontaneous Puberty

• Published in: International journal of endocrinology 2023-02, Vol.2023, p.6976389-8
• Main Authors: Wang, Jin, Lan, Tian, Dai, Xiang, Yang, Luhong, Hu, Xijiang, Yao, Hui
• Format: Article
• Language: English
• Subjects: Age groups; Analysis; Chromosomes; Diagnosis; Disease; Endocrinology; Fertility; Follicle-stimulating hormone; Genetic disorders; Glycoproteins; Hormone replacement therapy; Infertility; Luteinizing hormone; Menstruation; Ovaries; Puberty; Turner syndrome; Ultrasonic imaging; Visualization; X chromosomes; Y chromosomes
• ISSN: 1687-8337; 1687-8345
• DOI: 10.1155/2023/6976389

Objective. Preservation of fertility in Turner syndrome (TS) patients may be feasible through cryopreservation of ovarian tissue before follicles begin to disappear. Anti-Müllerian hormone (AMH) is said to be a predictive factor of spontaneous pubertal development in TS. We aimed to determine the cut-off values of AMH for the diagnosis of TS girls with spontaneous puberty. Design and methods: A total of 95 TS patients between 4 and 17 years were evaluated at the Department of Pediatric Genetic Metabolism and Endocrinology from July 2017 to March 2022. Serum AMH, follicle-stimulating hormone (FSH), and luteinizing hormone (LH) levels were analyzed according to age, karyotype, pubertal development, and ultrasound ovarian visualization. Receiver-operating characteristic (ROC) curve analyzes were used to test the utility of AMH for the diagnosis of TS girls with spontaneous puberty. Results. One-fourth of TS girls aged 8–17 years had spontaneous breast development, with the ratios as follows: 45, X (6/28, 21.4%), mosaicism (7/12, 58.3%), and mosaicism with structural X chromosome abnormalities (SCA) (2/13, 15.4%), SCA (1/13, 7.7%), and Y chromosome (1/3, 33.3%). The AMH cut-off value for the prediction of spontaneous puberty in TS patients was 0.07 ng/ml, with sensitivity and specificity both at 88%. FSH, LH levels, and Karyotypes could not be considered as markers of spontaneous puberty in TS (P>0.05). A strong relationship was observed between serum AMH levels and spontaneous puberty or ultrasound bilateral ovarian visualization. Conclusions. The AMH cut-off value for the prediction of spontaneous puberty in TS girls aged 8–17 years was 0.07 ng/ml, with sensitivity and specificity both at 88%. However, spontaneous puberty in these patients is not predictable based on karyotype or FSH or LH levels.