Background: Puberty is an extremely important phase in the physical and psychosocial development of the adolescent.
Methods: Selective literature review.
Results: The diagnosis of abnormal puberty requires thorough knowledge of normal pubertal development and of the variations of normal puberty as well as its pathology. Variations of normal pubertal development can be expected, by definition, to occur at a frequency of roughly 3%. A detailed history is the first step in the diagnostic evaluation of a normal variant or an abnormal puberty. Further evaluation includes laboratory testing (estradiol, testosterone, and the results of a GnRH test, among others) and imaging studies (x-ray of the left hand and wrist, ultrasonography of the gonads, magnetic resonance imaging). Treatment is directed at both the acute and the long-term consequences of precocious, markedly delayed, or absent pubertal development.
Conclusions: Disorders of pubertal development should be recognized early, correctly diagnosed by a pediatric endocrinologist, and appropriately treated.
Keywords: child and adolescent health; disorders of pubertal development; hypogonadism; puberty.