Rare Diseases Symptoms Automatic Extraction

[Puberty and bone metabolism].

[aromatase deficiency]

Large part of the peak bone mass is determined during puberty. While bone mineral accrual rate reaches maximum by the age of 11 - 14 years, it is attained by 16 years of age due to the pubertal delay by 2 - 3 years in boys. The bone accrual is largely influenced by estrogen, and the sexual dimorphism in bone become apparent during this period. Recent findings in hypogonadal disorders including Estrogen receptor mutation or aromatase deficiency have revealed the importance of estrogen in bone metabolism in male. However, the roles of androgen in bone remains unveiled.

Diseases presenting "bone mass" symptom

  • aromatase deficiency
  • dentin dysplasia
  • dentinogenesis imperfecta
  • familial hypocalciuric hypercalcemia

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