Puberty is the continuous maturation of growth and development to attain full sexual development and fertility by the hypothalamic-pituitary-gonadal. axis and other complex endocrine systems. Although the physiology and molecular mechanism of normal puberty are not completely understood, we have made great progress in the management and treatment of disorders of pubertal development such as precocious puberty and delayed puberty. Moreover, the gene abnormalities of disorders of puberta l disorders have been elucidated one after another. This chapter mainly focuses clinical issues and single gene disorders of disorders of pubertal development.
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