Subsequent menstrual disorder after spontaneous menarche in Turner syndrome

Abstract

Objective Turner syndrome (TS) is a congenital disease characterized by delayed puberty, ovarian dysgenesis and short stature. Although most patients are diagnosed with primary amenorrhea, approximately 15‐20% of patients with TS are reported to have spontaneous menarche. However, little is known about their menstruation status after spontaneous menarche. In the current study, we investigated the menstrual abnormalities after spontaneous menarche in TS patients. Design Retrospective study. Patients This study included TS patients with spontaneous menarche at Osaka Police Hospital or Komura Women’s Clinic between April 2015 and December 2019. Measurements Data regarding the age of menarche, menstruation status and chromosomal karyotype were collected and retrospectively analyzed. Results Of 172 TS patients, 32 with spontaneous menarche were identified. The median age of menarche was 12 years old. Premature ovarian insufficiency (POI) after menarche was observed in 12 patients (37.5%) and the median age at menopause was 20 years old. The average period from spontaneous menarche to menopause in these patients was 5.1 years. Five patients (15.6%) had irregular menstruation and 15 (46.9%) had regular menstruation. When examined according to the structural abnormality of the X chromosome, all patients with structural abnormality of the X chromosome were diagnosed with POI after spontaneous menarche, and none with mosaic without structural abnormality were diagnosed with POI. Conclusion Approximately one‐third of TS patients with spontaneous menarche were diagnosed with POI after menarche for an average of 5.1 years. Counseling is required for TS patients and their parents, including information about menstrual abnormalities or fertility preservation.

In vitro fertilization and pregnancy outcomes of women with X chromosome abnormality: A case series

“…Actually, a previous systematic review reported a 66.2% rate of spontaneous menarche in mosaic TS patients, while 20.8% for overall TS patients (Dabrowski et al, 2019). Also, Komura et al (2021) witnessed a 37.5% prevalence of POI after menarche, with a median menopause age of 20. The average duration from menarche to menopause was only 5.1 years in these patients.…”

“…TS is mainly characterized by short stature, delayed puberty, and ovarian dysgenesis (Komura et al, 2021). Almost all women with TS suffer from hypergonadotropic hypogonadism, contributing to primary or secondary amenorrhea and infertility ultimately (Gravholt et al, 2019).…”

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

“…This was a cross-sectional study of 95 TS patients. Although the main clinical feature of most TS patients is premature ovarian insufficiency [ 13 , 22 ], some patients still experience spontaneous puberty [ 23 ]. Serum AMH levels have been shown to reflect ovarian reserves in adult women with TS [ 24 ].…”

Novel insights in Turner syndrome

“…The onset, severity, and clinical presentation of ovarian failure is highly variable. Spontaneous thelarche occurs in 21-50% of Turner syndrome adolescents whereas spontaneous menarche occurs in 15-30% [71,72]. Although strict genotype/phenotype correlations for ovarian function do not exist, there is general consensus that mosaic karyotypes are more likely to have ovarian function [73][74][75].…”