ea0033oc1.5 | Oral Communications 1 | BSPED2013
Howard Sasha
, Storr Helen
, Metherell Lou
, Barnes Michael
, Cabrera Claudia
, Gausti Leonardo
, Wehkalampi Karoliina
, Dunkel Leo
Background: Disturbances of pubertal timing affect >4% of the population and are associated with adverse health outcomes. Studies estimate 6080% of variation in pubertal onset is genetically determined, but few genetic factors are known. We hypothesise that causal variants will be low-frequency, intermediate-impact variants and will be enriched in populations at the extremes of normal pubertal timing. Families with constitutional delay in growth and puberty (CDGP) ha...