title: Genetic predispositions and the short- and long-term effects of hormonal therapy on bone mineral density in girls with functional hypothalamic amenorrhoea.
abstract: BACKGROUND
  The aim of this study was to verify if genetic factors influence the short- and long-term therapeutic responses to oestroprogestagen (OP) therapy, implemented in girls with functional hypothalamic amenorrhoea (FHA) in order to improve their bone mineral density (BMD).
  
  
  METHODS
  The study included 78 FHA girls who underwent a four-year sequential OP therapy with 17-beta oestradiol and didrogesterone. Changes in the lumbar spine BMD were determined at the end of the therapy and six years after its discontinuation, and analysed in regards to PvuII and XbaI polymorphisms of oestrogen receptor-alpha gene, BsmI polymorphism of vitamin D3 receptor gene, and Sp1 polymorphism of the type-1 collagen gene.
  
  
  RESULTS
  After four years of OP therapy, a significant increase in BMD was documented in the studied group. Follow-up densitometry performed six years after completing the therapy revealed a significant decrease in BMD level; nonetheless, the values of this parameter were still significantly higher compared to pretreatment level. Neither the particular polymorphisms nor their combinations influenced the relative change in BMD at the end of the therapy and after a six-year follow-up.
  
  
  CONCLUSIONS
  Variability of genes involved in oestrogen, vitamin D3 and collagen metabolism does not influence the short- and long-term results of OP therapy in girls with FHA.
authors: Department of Endocrinology, Metabolic Diseases and Internal Diseases, Pomeranian Medical University, 71-252 Szczecin, Poland. elasowprzep@wp.pl
authors: Elżbieta
authors: E
authors: Sowińska-Przepiera
authors: Kornel
authors: K
authors: Chełstowski
authors: Zbigniew
authors: Z
authors: Friebe
authors: Anhelli
authors: A
authors: Syrenicz
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000188:drug therapy / Q000235:genetics*; D015519:Bone Density / Q000187:drug effects / Q000235:genetics*; D024042:Collagen Type I / Q000235:genetics; D004958:Estradiol / Q000008:administration & dosage* / Q000009:adverse effects; D047628:Estrogen Receptor alpha / Q000235:genetics; D004967:Estrogens / Q000008:administration & dosage* / Q000009:adverse effects; D005260:Female; D020022:Genetic Predisposition to Disease; D020249:Hormone Replacement Therapy / Q000379:methods*; D006801:Humans; D007027:Hypothalamic Diseases / Q000188:drug therapy / Q000235:genetics*; D010022:Osteopetrosis / Q000235:genetics / Q000517:prevention & control*; D011044:Poland; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics; D013995:Time
chemical_list: D024042:Collagen Type I; D047628:Estrogen Receptor alpha; D004967:Estrogens; D018167:Receptors, Calcitriol; D004958:Estradiol