Genetic predispositions do not explain short- and long-term effects of hormonal therapy on bone mineral density in girls with functional hypothalamic amenorrhea
E. Sowinska-Przepiera1,2, J. Poblocki1, E. Andrysiak-Mamos1, K. Chelstowski1, Z. Friebe2 & A. Syrenicz1
The aim of this study was to verify if genetic factors influence the short- and long-term therapeutic response to estroprogestagen (EP) therapy implemented in girls with functional hypothalamic amenorrhea (FHA) in order to improve their bone mineral density (BMD). The study included 78 FHA girls who underwent a 4-year sequential EP therapy with 17β-estradiol and didrogesterone. Changes in the lumbar spine BMD were determined at the end of the therapy and 6 years after its discontinuation, and analyzed in regards to PvuII i XbaI polymorphisms of estrogen receptor-α gene, BsmI polymorphism of vitamin D3 receptor gene, and Sp1 polymorphism of the type-one collagen gene. After 4 years of EP therapy, significant increase of BMD was documented in the studied group. Follow-up densitometry performed 6 years after completing the therapy revealed significant decrease in BMD level; nonetheless, the values of this parameter were still significantly higher compared to pretreatment level. Neither single polymorphisms or their combinations did not influence the relative change in BMD at the end of the therapy and after 6-year follow-up.
Conclusion: Variability of genes involved in estrogen, vitamin D3 and collagen metabolism does not influence the short- and long-term results of EP therapy in girls with FHA.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.