Stine Aa Lunding1, Lise Aksglaede1, Richard A Anderson1, Katharina M Main1, Anders Juul1, Casper P Hagen1, Anette T Pedersen1. 1. Department of Gynecology/Fertility Clinic (S.Aa.L., A.T.P.), and Department of Clinical Genetics (L.A.), Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark; Medical Research Council Centre for Reproductive Health (R.A.A.), University of Edinburgh, Edinburgh EH8 9YL, United Kingdom; and Department of Growth and Reproduction and EDMaRC (K.M.M., A.J., C.P.H.), and The Paed-Gyn Endo Transition Clinic (K.M.M., A.J., C.P.H., A.T.P.) at Rigshospitalet, University of Copenhagen, DK-2100 Copenhagen, Denmark.
Abstract
CONTEXT: The majority of Turner syndrome (TS) patients suffer from accelerated loss of primordial follicles. Low circulating levels of anti-Müllerian hormone (AMH) may predict the lack of spontaneous puberty in prepubertal girls and imminent premature ovarian insufficiency (POI) in TS women with preserved ovarian function. OBJECTIVES: To evaluate the association between circulating AMH and ovarian status in TS patients. DESIGN: Longitudinal observational cohort study. SETTING: Tertiary referral center for pediatric and gynecologic endocrinology. PARTICIPANTS: A total of 120 TS patients, aged 0 to 48 years. MAIN OUTCOME MEASURES: Longitudinal measurements of AMH, FSH, LH, estradiol, and inhibin B according to age, karyotype (45,X; 45,X/46,XX mosaicism; miscellaneous karyotypes), and ovarian status (group 0, prepubertal; group 1, never ovarian function; group 2, ongoing ovarian function; and group 3, loss of ovarian function). RESULTS: Ovarian status was highly associated with the TS karyotype: spontaneous puberty—45,X (three of 44 patients), 45,X/46,XX (15 of 17), miscellaneous (17 of 42); and POI—45,X (three of three), 45,X/46,XX (one of 15), and miscellaneous (eight of 17). AMH was associated with ovarian status (eg, group 1, <2 pmol/L; vs group 2, 19 pmol/L; P < .001). AMH < 4 pmol/L (corresponding to <-2 SD) predicted absent puberty in prepubertal girls and POI in adolescent and adult patients. CONCLUSION: The majority of women with mosaic karyotype 45,X/46,XX had ongoing ovarian function in early adulthood. AMH < -2 SD predicted failure to enter puberty in young TS girls and imminent POI in adolescent and adult TS patients.
CONTEXT: The majority of Turner syndrome (TS) patients suffer from accelerated loss of primordial follicles. Low circulating levels of anti-Müllerian hormone (AMH) may predict the lack of spontaneous puberty in prepubertal girls and imminent premature ovarian insufficiency (POI) in TS women with preserved ovarian function. OBJECTIVES: To evaluate the association between circulating AMH and ovarian status in TS patients. DESIGN: Longitudinal observational cohort study. SETTING: Tertiary referral center for pediatric and gynecologic endocrinology. PARTICIPANTS: A total of 120 TS patients, aged 0 to 48 years. MAIN OUTCOME MEASURES: Longitudinal measurements of AMH, FSH, LH, estradiol, and inhibin B according to age, karyotype (45,X; 45,X/46,XX mosaicism; miscellaneous karyotypes), and ovarian status (group 0, prepubertal; group 1, never ovarian function; group 2, ongoing ovarian function; and group 3, loss of ovarian function). RESULTS: Ovarian status was highly associated with the TS karyotype: spontaneous puberty—45,X (three of 44 patients), 45,X/46,XX (15 of 17), miscellaneous (17 of 42); and POI—45,X (three of three), 45,X/46,XX (one of 15), and miscellaneous (eight of 17). AMH was associated with ovarian status (eg, group 1, <2 pmol/L; vs group 2, 19 pmol/L; P < .001). AMH < 4 pmol/L (corresponding to <-2 SD) predicted absent puberty in prepubertal girls and POI in adolescent and adult patients. CONCLUSION: The majority of women with mosaic karyotype 45,X/46,XX had ongoing ovarian function in early adulthood. AMH < -2 SD predicted failure to enter puberty in young TS girls and imminent POI in adolescent and adult TS patients.
Authors: A Nordenström; S F Ahmed; E van den Akker; J Blair; M Bonomi; C Brachet; L H A Broersen; H L Claahsen-van der Grinten; A B Dessens; A Gawlik; C H Gravholt; A Juul; C Krausz; T Raivio; A Smyth; P Touraine; D Vitali; O M Dekkers Journal: Eur J Endocrinol Date: 2022-04-21 Impact factor: 6.558