Epidemiology

The exact prevalence and incidence of children presenting with a delay in pubertal development is difficult to define. By the definition of pubertal delay as 2 to 2.5 standard deviations later than the population mean age, 2% of the population have delayed puberty, but far fewer have a severely delayed puberty. The majority of patients who present to healthcare professionals are boys. The prevalence of primary amenorrhoea in the US is <0.1%,[2] The incidence of Turner's syndrome is 1 in 2500 live-born females,[3][4]​​​ and that of Klinefelter's syndrome is 1 in 1500 live-born males. The prevalence of organic hypogonadotrophic hypogonadism is 1 in 15,000-50,000.[5]

The incidence and prevalence of delayed puberty are difficult to estimate because of several confounding factors.[6]

  • There is evidence that puberty in girls occurs at a progressively earlier age in successive generations (2 to 3 months per decade)​​ if puberty is defined as the age at menarche or by first breast development.[7][8][9]​​ There is more conflicting evidence of the change in the age of onset of puberty over time in boys,​​ although this may be because the onset and completion of puberty in boys is less well defined and documented compared with the documentation of menarche in girls.[10][11]​ 

  • There is a variation in the mean pubertal age between different ethnic groups. Typically, girls of African or Caribbean origin have a younger age of menarche (by approximately 6 months) than white girls.[12]​ The mean age of menarche decreased by 3 months in white girls compared with 5.5 months in girls of African or Caribbean descent between 1960 and 1990 in the US.[13]

  • There is a genetic influence on the onset of puberty that manifests as a similarity in the age at onset of puberty, and especially the age of menarche, between twin pairs, sisters, and girls and their mothers.

  • There has been a doubling in the frequency of obesity in children since 1980; moderate obesity is associated with an earlier age of menarche.[8][14][15][16]

One large retrospective study of 232 adolescents with pubertal delay (158 males; 74 females) found presumed constitutional delay of puberty to be the most common (53%; approximately 2:1 male-to-female ratio).[17] A further 19% of patients had spontaneous pubertal development with time. Organic hypogonadotrophic hypogonadism and hypergonadotrophic hypogonadism were reported in 12% and 13% respectively,​ confirmed in one 2017 study of 244 Finnish children presenting with pubertal delay.[17][18]

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