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

Abstract

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.

Navigating fertility dilemmas across the lifespan in girls with Turner syndrome—a scoping review

“…In the study of Hagen et al (2010a ) all girls with AMH <0.56 ng/ml did not develop spontaneous thelarche. Moreover, AMH-levels were correlated with karyotype, as described by Wang et al (2023) , who found significant higher levels of AMH in young girls with 45,X/46,XX aged 4–7 years, compared to girls with 45,X and ‘other’ karyotypes (median values respectively 1.13 ng/ml vs 0.02 and 0.04 ng/ml).…”

“…In addition, according to the findings of Hankus et al (2018) , the probability of experiencing spontaneous menarche when FSH levels exceeded 6.7 IU/l at the age of 6–10 years, was observed to be reduced. In most girls, FSH remained low during childhood, and in these cases AMH appears to be the most reliable indicator for ovarian reserve ( Hagen et al , 2010a ; Purushothaman et al , 2010 ; Kallio et al , 2012 ; Visser et al , 2013 ; Lunding et al , 2015 ; Wang et al , 2023 ). Lunding et al (2015) reported on pubertal development and AMH levels before pubertal onset in a longitudinal observational cohort study that included 15 girls with TS.…”

“…At pubertal age, AMH above the detection limit was associated with spontaneous thelarche ( Visser et al , 2013 ; Lunding et al , 2015 ; Hamza et al , 2018 ; Ruszała et al , 2020 ; Wang et al , 2023 ). In the cross-sectional study of Hamza et al (2018) , higher AMH levels were found in seven girls with TS ≥12 years of age with spontaneous thelarche compared to 43 girls with TS with induced puberty (2.12 ± 0.76 ng/ml vs 1.01 ± 0.53 ng/ml) and found that the odds of spontaneous thelarche was 18.4 and the odds of spontaneous menarche was 37.5 if AMH was above the detection limit.…”