TY - JOUR

T1 - AMH as Predictor of Premature Ovarian Insufficiency

T2 - A Longitudinal Study of 120 Turner Syndrome Patients

AU - Lunding, Stine Aa

AU - Aksglæde, Lise

AU - Anderson, Richard A

AU - Main, Katharina M

AU - Juul, Anders

AU - Hagen, Casper P

AU - Pedersen, Anette T

PY - 2015/7

Y1 - 2015/7

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Anti-Mullerian Hormone

KW - Biomarkers

KW - Child

KW - Child, Preschool

KW - Female

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Longitudinal Studies

KW - Middle Aged

KW - Primary Ovarian Insufficiency

KW - Prognosis

KW - Turner Syndrome

KW - Young Adult

U2 - 10.1210/jc.2015-1621

DO - 10.1210/jc.2015-1621

M3 - Journal article

C2 - 25978111

VL - 100

SP - E1030-8

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 7

ER -