SPONTANEOUS PUBERTAL DEVELOPMENT IN TURNERS-SYNDROME

The incidence of spontaneous puberty in Turner's syndrome is reported to be between 5-10% and, more recently in some series, as high as 20%. In an Italian retrospective multicenter study, of 522 patients older than 12 yr with Turner's syndrome, 84 patients (16, 1%) presented spon taneous pubertal development with menarche that occurred at a chronolo gical age of 13.2 +/- 1.5 yr (mean +/- SD) and a bone age of 12.9 +/- 1.9 yr. Karyotype distribution in the whole group was as follows: 52.1 % (272 patients) X-monosomy (45,X), 13.2% (69 patients) mosaicism char acterized by X-monosomy and cellular line with no structural abnormali ties of the second X, 19.9% (104 patients) mosaicism characterized by X-monosomy and cellular line with structural abnormalities of the seco nd X, and 14.8% (77 patients) structural abnormalities of the second X . Menstrual cycles were still regular in 30 patients at 9.2 +/- 5.0 yr after menarche, 12 developed secondary amenorrhea 1.6 +/- 2.0 yr afte r menarche, and 19 had irregular menstrual cycles 0.9 +/- 1.8 yr after menarche. As signs of spontaneous puberty developed in 14.0% of X-mon osomic patients and in 32.0% of patients with cell lines with more tha n one X, the presence of the second X stems to have a cardinal influen ce on the appearance of spontaneous puberty. Spontaneous pregnancy occ urred in 3 patients (3.6%). The presence of chromosomal abnormalities and malformations in 2 of 3 pregnancies lad us to agree with other inv estigators in discouraging unassisted pregnancies. Treatment with GH d oes not seem to exert any influence on either the age of onset or the prevalence of spontaneous pubertal development in Turner's syndrome. T he increased percentage of spontaneous menarche is Turner's syndrome r eported in the recent literature might be due to increased ascertainme nt by diligent screening for Turner's syndrome in girls with short sta ture and mild or no Turner's syndrome stigmata, even though they may b e menstruating.