Effect of the Parental Origin of the X-chromosome on the Clinical Features, Associated Complications and the Twoyear- response to Growth Hormone (rhGH) of Patients with Turner Syndrome (TS)

ALVAREZ-NAVA, F.; LANES, R.; QUINTERO, J.; MIRAS, M.; FIDELEFF, H.; MERICQ, V.; MARCANO, H.; ZABALA, W.; SOTO, M.; PARDO, T.; BORJAS, L.; VILLALOBOS, J.; GUNCZLER, P.; UNANUE, N.; TKALENKO, N.; BOYANOFSKY, A.; SILVANO, L.; FRANCHIONI DE MUÑOZ, L.; LLANO, MI.; FIDELEFF, G.

Cartagena de Indias

Encuentro; XXII Annual Meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP); 2011

Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP)

Introduction: To determine the influence of the parental origin of the X-chromosome on phenotypic variability, metabolism and response to rhGH in patients with Turner syndrome (TS). Methods: This was a Latin American prospective, multicenter, correlational study. Unrelated TS 45,X karyotype patients (n = 93; 18.4 ± 7.8 years) and their mothers were enrolled. DNA profiles of patients and their mothers were compared to determine the parental origin of the retained X-chromosome through 10 polymorphic X-chromosome-STRs and was correlated withclinical features, congenital malformations, biochemical profiles and anthropometric data at the beginning and after two years of rhGH treatment.Results: Sixty-seven (72%) patients retained the maternal X chromosome (Xm). A significant correlation between maternal height and patient?s height (p ≤ 0.05) in subjects 45,Xm was observed. There was no correlation between paternal height and patient?s height at different developmental stages. No differences were detected between groups (45,Xm vs. 45,Xp) in regard to dysmorphic features, classical malformations or increase in the height-SDS after rhGH. There werehigher levels of triglycerides, total cholesterol and LDL in patients >20years who retained the Xm. Conclusion: It is possible that the parentalorigin of the retained X chromosome influences linear growth and lipid metabolism in TS patients.