Evaluation of the usefulness of antymüllerian hormone and inhibin B as markers of ovarian activity in patients with Turner syndrome – preliminary results

Ruszała, Anna; Wójcik, Małgorzata; Starzyk, Jerzy

doi:10.5114/pedm.2020.95622

Cited by 5 publications

(3 citation statements)

References 32 publications

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“…In younger paediatric patients reports on this correlation are however inconclusive, with some studies reporting positive correlation (32) and some none (33,34). In TS AMH concentrations are higher in patients with spontaneous puberty and mosaic karyotype (35,36). In a study of TS patients by Borgstrom et al AMH concentrations above 2 pmol/l (0.28 ng/ml) (accepted norm for teenagers) predicted the presence of follicles in laparoscopic biopsy with accuracy of 81%, sensitivity of 64% and specificity of 88% (20).…”

Section: Amhmentioning

confidence: 98%

Questions concerning fertility preservation during transition in girls with Turner syndrome: review of the literature

Więcek

Gawlik

Nowak

et al. 2022

Endocrine Connections

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Loss of fertility is one of the most important concerns facing Turner Syndrome (TS) patients as they transition into adult healthcare. Due to the limited and rapidly decreasing ovarian reserve many TS patients require fertility preservation (FP) techniques to preserve their reproductive potential until they are ready to pursue procreation. One has to also remember about the additional risks connected with pregnancy in TS patients. In order to determine the optimal time for introducing FP techniques and decrease the chance of an unnecessary intervention, markers and procedures assessing ovarian reserve have been developed. The exposure to potential cardiovascular complications should be determined before FP to avoid unnecessary procedures in patients with potential contraindications to pregnancy. The aim of the present review is to answer the following three questions important for successful preservation of fertility and safe pregnancy in TS. Which markers of ovarian reserve should be used as selection criteria for FP? Which methods of FP are the safest and most effective? If are there any cardiovascular contraindications to fertility preservation? For each of those questions separate literature searches have been conducted. A total of 86 articles have been included in this review, 34 for the first question, 35 for the second and 17 for the third. Ovarian reserve markers and cardiovascular contraindications to pregnancy should be established before FP, hoverer there are no unambiguous indicators which patients should be disqualified from the FP and more evidence is needed in this subject.

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Section: Amhmentioning

confidence: 98%

Questions concerning fertility preservation during transition in girls with Turner syndrome: review of the literature

Więcek

Gawlik

Nowak

et al. 2022

Endocrine Connections

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“…Circulating AMH reflects the number of primordial follicles and is therefore predictive of reproductive lifespan [ 14 , 15 ]. In healthy adult women, serum AMH levels are strongly correlated with antral follicle counting (AFC) [ 16 ], and the decline in serum AMH levels precedes the changes in traditional markers of ovarian reserve, such as FSH, inhibin B, and E2 [ 17 , 18 ]. Serum AMH concentrations are shown to be a valuable marker of ovarian function in girls, adolescents, and adult women with TS.…”

Section: Introductionmentioning

confidence: 99%

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

Wang

Lan

Dai

et al. 2023

International Journal of Endocrinology

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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.

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“…8 In prepubertal children, however, since ovarian follicles are in a quiescent stage, the role of AMH as reflective of ovarian reserve is less certain with more variability in AMH levels. 9 In TS, higher serum AMH levels have been correlated with spontaneous puberty [10][11][12] and one study proposed a cutoff serum AMH < 4pmol/L (0.56 ng/mL) as predictive of absent spontaneous puberty in prepubertal, and POI in adolescents and adult patients with TS. 13 AMH has also been proposed as a marker to select prepubertal girls with TS for fertility preservation techniques such as ovarian tissue cryopreservation (OTC) 14 but the routine clinical role of AMH and its utility as a marker of ovarian function in TS remains unclear.…”

mentioning

confidence: 99%

Anti‐Mullerian hormone and spontaneous puberty in a diverse US Turner syndrome clinic cohort: A cross‐sectional study

Bustamante,

Galetaki,

Dowlut‐McElroy

et al. 2023

Clinical Endocrinology

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ObjectiveSerum Anti‐Mullerian Hormone (AMH) concentrations have been proposed as a marker of spontaneous puberty and future fertility in Turner syndrome (TS). Gonadotropins during minipuberty may also provide a clue to ovarian function but there is insufficient data to inform utility in the routine clinical management of TS. Our objective was to describe the distribution of AMH in a cross‐sectional cohort of patients in a TS specialty clinic, and correlate with spontaneous puberty and karyotype, as well as gonadotropins during the minipuberty of infancy in a smaller subset of patients aged 2−9 months.DesignRetrospective chart review of patients seen in the TS clinic at Children's National Hospital from 1/1/2019 to 8/24/2022, to assess AMH and correlate with karyotype and spontaneous puberty.ResultsAmong 114 patients (median age 9.6 year, 0.08−22 year), AMH values were detectable in only (40/104) 38%, and higher mean AMH (2.7 ± 0.95 ng/mL) was seen in mosaic 45,X/46,XX karyotype compared to 45,X (0.03 ± 0.14 ng/mL) (p < .001), and structurally abnormal‐X karyotype (0.11 ± 0.5) (p = .0003). Mean AMH was higher (1.4 ± 1.6 ng/mL) among those with spontaneous menarche compared with spontaneous thelarche but no menarche. AMH was detectable in 2/10 during minipuberty in those with the lowest luteinizing hormone (LH).ConclusionsOur institutional data reflects a diverse cohort of patients seen in a TS specialty clinic in the United States, showing correlation of AMH with karyotype and spontaneous menarche, as well as description of gonadotropins during minipuberty highlighting their clinical relevance. Studies in larger, prospective longitudinal cohorts will help determine their predictive value and role in the care of TS.

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Evaluation of the usefulness of antymüllerian hormone and inhibin B as markers of ovarian activity in patients with Turner syndrome – preliminary results

Cited by 5 publications

References 32 publications

Questions concerning fertility preservation during transition in girls with Turner syndrome: review of the literature

Questions concerning fertility preservation during transition in girls with Turner syndrome: review of the literature

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

Anti‐Mullerian hormone and spontaneous puberty in a diverse US Turner syndrome clinic cohort: A cross‐sectional study

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