Anti-Mullerian hormone levels in girls and adolescents with Turner syndrome are related to karyotype, pubertal development and growth hormone treatment

Abstract

what is known already: Most girls with TS suffer from incomplete sexual development, premature ovarian failure and infertility due to abnormal ovarian folliculogenesis. Serum AMH levels reflect the ovarian reserve in females, even in childhood. study design, size, duration: Cross-sectional study investigating 270 karyotype proven TS patients aged 0-20 years between 2009 and 2010. participants/materials, settings, methods: Studies were conducted at three University Children's hospitals in Europe. Main outcome measures were clinical data concerning pubertal development as well as laboratory data including karyotype, serum AMH, LH, FSH, estradiol (E2), inhibin B and IGF.results and the role of chance: Serum AMH was detectable in 21.9% of all TS girls and correlated strongly with karyotypes.A measurable serum AMH was found in 77% of TS girls with karyotype 45,X/46,XX, in 25% with 'other' karyotypes and in only 10% of 45,X TS girls. A strong relationship was also observed for measurable serum AMH and signs of spontaneous puberty such as breast development [adjusted odds ratio (OR) 19.3; 95% CI 2.1-175.6; P ¼ 0.009] and menarche (crude OR 47.6; 95% CI 4.8 -472.9; P ¼ 0.001). Serum AMH correlated negatively with FSH and LH, but did not correlate with E2 and inhibin B. GH therapy increased the odds of having measurable AMH in TS (adjusted OR 4.1; 95% CI 1.9 -8.8; P , 0.001).limitations, reasons for caution: The cross-sectional design of the study does not allow longitudinal interpretation of the data; for that further studies are needed. High percentage of non-measurable AMH levels in the cohort of TS require categorized analysis.wider implications of the findings: Serum AMH levels are a useful marker of the follicle pool and thus ovarian function in pediatric patients with TS. These findings are in line with the published literature. The finding that GH therapy may affect AMH levels is novel, but must be confirmed by future longitudinal studies.

Fertility preservation in Turner syndrome

“…Indeed, comparable live birth rates have been reported with the use of fresh or cryopreserved embryos (15). Protocols and methods of egg retrieval are identical for oocyte and embryo freeze cycles.…”

“…However, the paucity of available data on AMH during childhood accounts for the need to interpret its values in this population with caution (14). Visser et al (15) recently studied serum AMH levels in girls and adolescents with TS and reported detectable values of this peptide in 21.9% of patients, the results correlating with karyotypes. In addition, AMH was detected in 77% of girls with 45,X/46,XX karyotypes, but in only 10% of those with 45,X karyotypes.…”

Prediction of Spontaneous Puberty in Turner Syndrome Based on Mid-Childhood Gonadotropin Concentrations, Karyotype, and Ovary Visualization: A Longitudinal Study

“…AMH appears to be a reliable marker in this field, and is associated with karyotype as well as with ovarian function, the lowest AMH levels being found in 45,X monosomy patients and in those with no signs of spontaneous puberty [22,23]. AMH has been found to predict disturbance at puberty onset in young TS girls and premature ovarian failure in adolescent and adult TS patients [22][23][24]. Nevertheless, none of the cited studies proved the superiority of AMH over FSH in predicting spontaneous puberty.…”

“…Based on an analysis of 15 girls, Lunding et al [24] confirmed that an AMH level below -2 SD (4 pmol/L) predicted failure to enter puberty. However, a strong negative correlation between AMH and FSH was found in a multicentre study, but due to its cross-sectional design the authors stressed the need for a longitudinal study to determine if AMH at a younger age is predictive and whether multiple measurements are needed over time [23].…”

Anti-Müllerian Hormone (Amh) in Gynecological Endocrinology

“…Turner Syndrome AMH levels can serve as a useful marker of the follicle pool in patients with Turner syndrome. AMH levels in these patients are related to karyotype, pubertal development and growth hormone treatment (25). A low AMH level can predict failure to enter puberty in young patients and imminent POF (26).…”