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.
J Clin Endocrinol Metab. 2015 Jul;100(7):E1030-8. doi: 10.1210/jc.2015-1621. Epub 2015 May 15.
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.
To evaluate the association between circulating AMH and ovarian status in TS patients.
Longitudinal observational cohort study.
Tertiary referral center for pediatric and gynecologic endocrinology.
A total of 120 TS patients, aged 0 to 48 years.
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).
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.
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.
大多数特纳综合征（TS）患者的原始卵泡加速丢失。循环抗苗勒管激素（AMH）水平低可能预测青春期前女孩的自发性青春期缺失和卵巢功能正常的 TS 女性即将发生的卵巢早衰（POI）。
评估循环 AMH 与 TS 患者卵巢状态的关系。
纵向观察队列研究。
儿科和妇科内分泌学三级转诊中心。
共 120 名 TS 患者，年龄 0 至 48 岁。
根据年龄、核型（45，X；45，X/46，XX 嵌合体；其他核型）和卵巢状态（0 组，青春期前；1 组，从未有卵巢功能；2 组，持续有卵巢功能；3 组，卵巢功能丧失），对 AMH、FSH、LH、雌二醇和抑制素 B 进行纵向测量。
卵巢状态与 TS 核型高度相关：自发性青春期-45，X（44 例中的 3 例）、45，X/46，XX（17 例中的 15 例）、其他核型（42 例中的 17 例）；POI-45，X（3 例中的 3 例）、45，X/46，XX（15 例中的 1 例）和其他核型（17 例中的 8 例）。AMH 与卵巢状态相关（例如，组 1，<2 pmol/L；与组 2，19 pmol/L；P <.001）。AMH <4 pmol/L（对应于 <-2 SD）预测青春期前女孩的青春期缺失和青春期和成年患者的 POI。
大多数嵌合体核型 45，X/46，XX 的女性在成年早期仍有持续的卵巢功能。AMH <-2 SD 预测年轻 TS 女孩青春期缺失和青春期和成年 TS 患者即将发生的 POI。
