ACTA ENDOCRINOLOGICA (BUC)

Context. Ovarian failure leading to delayed puberty and infertility is a cardinal sign in patients with Turner syndrome (TS). Objective. We reviewed the pattern of puberty in a group of Irish patients with TS. Design. This was a prospective observational study conducted at the National Children’s Hospital, Dublin, Ireland. Subjects and Methods. All patients aged 12–19 years and attending the paediatric endocrinology service with a confirmed diagnosis of TS were enrolled. Eligible patients underwent puberty assessment using Tanner staging and had 3 ml of blood taken for measuring luteinising hormone (LH), follicle-stimulating hormone (FSH) and oestradiol. Results. Out of 65 patients with TS identified from the medical and laboratory records, 42 aged 12 to 19 years were enrolled. Clinical assessment of puberty using Tanner staging revealed that 21 patients (50%) had spontaneous puberty (breast stage 2–5). Fourteen individuals out of 23 with mosaicism experienced spontaneous puberty (61.9%) compared with 7 out of 19 (36.8%) carrying a 45,X karyotype (P = 0.10). Of the 21 patients who had spontaneous puberty, 9 (43%) achieved menarche ; 6 of them were mosaic while the other 3 had 45 X karyotype (P = 0.33). The mean age of spontaneous menarche was 13.9 ± 1.97 years (range 10.9–18.9). One patient with spontaneous puberty achieved two successful pregnancies. Conclusions. Spontaneous puberty occurred in half of TS patients in this cohort and among these, 43% achieved spontaneous menarche. Prevalence of both spontaneous puberty and menarche were higher in mosaic patients compared to those with 45X karyotype.