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 amenorrhea in the US is <0.1%,[2] The incidence of Turner syndrome is 1 in 2500 live-born females,[3][4]​​​ and that of Klinefelter syndrome is 1 in 1500 live-born males. The prevalence of organic hypogonadotropic 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 due to the fact that 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 hypogonadotropic hypogonadism and hypergonadotropic 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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