Long-term prospective evaluation of the effects of estroprogestagen therapy on the bone mineral density of girls with Turner syndrome carrying various PvuII AND XbaI polymorphisms of ER-[alpha]

Elzbieta Sowinska-Przepiera; Elzbieta Andrysiak-Mamos; Grazyna Jarzabek-Bielecka; Justyna Syrenicz; Kornel Chelstowski; Anhelli Syrenicz

doi:10.1530/endoabs.32.P76

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Endocrine Abstracts (2013) 32 P76 | DOI: 10.1530/endoabs.32.P76

ECE2013 Poster Presentations Bone and Osteoporosis (41 abstracts)

Long-term prospective evaluation of the effects of estroprogestagen therapy on the bone mineral density of girls with Turner syndrome carrying various PvuII AND XbaI polymorphisms of ER-α

Elzbieta Sowinska-Przepiera ^1, , Elzbieta Andrysiak-Mamos ¹ , Grazyna Jarzabek-Bielecka ² , Justyna Syrenicz ¹ , Kornel Chełstowski ³ & Anhelli Syrenicz ¹

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¹Department of Endocrinology, Metabolic Diseases and Internal Diseases, Pomeranian Medical University, Szczecin, Poland; ²Department of Gynecology, University of Medical Sciences, Poznan, Poland; ³Department of Laboratory Diagnostics and Molecular Medicine, Pomeranian Medical University, Szczecin, Poland.

Introduction: Reduced bone mineral density (BMD) is present in many women with Turner syndrome (TS), while hypo-estrogenism is known to play a vital role in bone mineralization disturbances. It has been suggested that genetic factors play an important role in the regulation of BMD. The aim of this study was to analyze the association between PvuII and XbaI ER-a polymorphisms and BMD in TS patients subjected to estroprogestagen (EP) treatment.

Material and methods: Fifty-four TS patients aged 17–38 (mean age 22.7±8.2), along with 82 healthy controls were the subjects for this study. Baseline values of hormonal parameters, BMD and bone density markers were measured in the subjects. Subsequently, TS patients underwent 5 years EP therapy.

Results: The results of laboratory parameters and BMD were analyzed in regards to PvuII and XbaI polymorphic variants of the ER-α gene. The increase in BMD of TS subjects was the highest in the first (7.5%, P=0.013) and second (6.6%, P=0.008) years of treatment. Four years of EP therapy was reflected by a significant increase in BMD z-scores in patients with xx and Xx genotypes of the XbaI gene and in those with with the pp and Pp genotypes of PvuII. In patients with haplotypes other than XXPP, BMD z-scores were significantly higher compared to their baseline after 2 (P=0.002), 3 (P=0.001), 4 (P=0.002) and 5 (P=0.001) years of treatment.

Conclusions: Genotypes xx and pp were shown to be prognostic markers of a good response to EP treatment, while the XXPP haplotype carriers were revealed to have the risk factors for insufficient responsiveness against EP treatment in BMD control.