Puberty is the normal developmental stage when reproductive capacity is attained Disturbances of pubertal timing affect over 4% of the population Deranged pubertal timing has significance for public health in view of the association between early or late puberty and an adverse cardiovascular, metabolic and cancer risk profile 1-3
Background -PubertyCondition of healthy individuals with pubertal onset delayed by more than 2 standard deviations Repeatedly been shown to cluster in families, often with AD pattern 6 , but pathophysiology and genetic regulation remain unclear Very limited number of rare, high impact genetic variants identified in families with both hypogonadotropic hypogonadism (HH) and DP 7Our cohort was collected from patients seen under specialist Paediatric care from Finland between 1982Finland between -2004 Cohort contains 403 affecteds from 170 families and their unaffected relatives (total of 910 individuals)
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