Standard operating procedures: pubertas tarda/delayed puberty--male

Abstract

Introduction: Delayed puberty (DP) is a condition characterized by the lack of sexual maturation in boys (testis volume <4 mL) at a chronological age that is 2.5 standard deviations above the mean age of puberty in a normal population.

Aim: To review the etiology, pathogenesis diagnosis, and the available treatments for DP in males.

Methods: A systematic search of published evidence was performed using Medline (1969 to September 2011).

Main outcome measures: The most important evidence regarding DP and the available treatment options were reviewed and discussed. Whenever possible, levels of evidence are reported.

Results: The prevalence of DP in 14-year-old boys in the United States is less than 2%, almost double of same figure in females. The etiology of DP is complex including genetic, functional, or nonidentifiable defects. The correct diagnosis should include an accurate medical history and physical examination along with specific laboratory tests. In addition, bone age radiographs are frequently helpful. If a specific disorder can be identified, therapy should be targeted at that disorder. Short-term testosterone therapy can be offered to boys with constitutional DP after a variable time of expectant observation essentially dictated by the patient's distress. Reassurance and continued observation, to ensure that the expected sexual maturation occurs, are often sufficient. In all other cases, exogenous gonadotropins, either recombinant or extracted, induce full gonadal maturation, while long-term testosterone therapy is the treatment of choice for hypergonadotropic hypogonadism or for hypothalamic or pituitary gonadotropin deficiency until fertility is attained.

Conclusions: DP is a frequent condition that if not correctly diagnosed, may cause serious clinical and psychological consequences. Appropriate diagnosis and treatment provide normal pubertal development.