The Shereshevsky-Turner syndrome: Spontaneous growth and growth-promoting effects of estrogen replacement therapy

Short stature and ovarian failure are typical features of Turner's syndrome (TS). Although growth in TS has been intensively studied, few data are available concerning the influence of different karyotypes and estrogen replacement therapy on the growth of TS patients. This paper presents the first results of studying the growth of TS patients in Russia. Sixty-one girls aged 5 to 17 with TS were examined. Auxological data included parental height (Ht), target Ht, predicted Ht (1), spontaneous Ht, Ht SDS (Tanner), Ht SDS TS (1), birth length, birth length SDS, and Ht SDS for BA before and after estrogen therapy. The diagnosis of TS was confirmed by the identification of the karyotype from peripheral leukocytes. 45,X karyotype was detected in 69%, different types of mosaicism including X chromosome (45,X/46,XX; 45,X/46,X(r)x) in 16%, 46,Xi(q) and deletions of X chromosome in 10%; Y chromosome mosaicism (45,X/46,XY) in 5%. Estrogen replacement (dihydrostilbestrol orally in a daily dose of 1.0 mg) was started at BA>11.0 years if no signs of spontaneous puberty were observed. The mean duration of estrogen therapy was 0.96±0.15 years. A moderate growth delay was seen at birth (0.95±0.11 Ht SDS). There was no correlation between birth length and parental height (r=0.09 for maternal and r=-0.33 for parental height, respectively). The degree of postnatal growth retardation negatively correlated with CA (r=-0.647; p<0.01). Short stature was particularly evident at CA>9.0 yrs (-2.46±0.19 Ht SDS and -3.36±0.20 Ht SDS, CA<9.0 yrs vs. CA>9.0 yrs, respectively). The karyotype (45, X or mosaicism) did not influence growth retardation either at birth (49.32±0.28 cm vs. 48.61±0.56 cm; p=0.48) or in the postnatal life (p=0.8). Estrogen appreciably accelerated the growth (0.60±0.14 and 0.80±0.15 Ht SDS TS, before vs. after estrogen, p=0.006), followed by a decrease of SDS for BA (-1.43±0.23 vs. -1.80±0.34, p=0.2). Hence, spontaneous growth in Turner girls in Russia does not appreciably differ from European standards. Short stature progressed with age irrespective of the karyotype (45,X or mosaicism). Low estrogen doses, minimizing the unfavorable effects on BA maturation, are more appropriate for replacement therapy in TS.

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