Delayed puberty can be a source of great concern and anxiety, although it usually is caused by a self-limiting variant of the normal physiological timing named constitutional delay of growth and puberty (CDGP). Delayed puberty can, however, also be the first presentation of a permanent condition or a symptom of an underlying disease.
The diagnosis delayed puberty is made if there are no signs of puberty at an age corresponding to 2 SD above the population mean age at pubertal onset, often translated into 14 years in boys. Delayed puberty among boys is a frequent presentation in pediatrics. The underlying reasons for the large variation in the age at pubertal onset are not fully established; however, nutritional status and socioeconomic and environmental factors are known to be influencing, and a significant amount of influencing genetic factors have also been identified.
The challenges of diagnostic evaluation today remain in distinguishing the benign CDGP from underlying pathological causes such as hypogonadotropic hypogonadism (HH) and hypergonadotropic hypogonadism. Several techniques have been investigated for this purpose and are reviewed in this chapter; however, no single test is yet optimal in discriminating especially CDGP from HH.
Management of the delayed puberty depends on the etiology. For boys with CDGP an observational period will often reveal imminent puberty. If puberty is not progressing spontaneously, sex steroid replacement is effective in stimulating the development of secondary sexual characteristics.
Several therapy options exist for treatment of delayed puberty in boys with hypogonadism, which are reviewed in this chapter, including sex steroid replacement.
The long-term consequences of delayed puberty are both physical (e.g., reduced fertility and decreased bone mineral density) and psychological (e.g., low self-esteem) and underline the importance of careful clinical assessment of the patients.
Delayed puberty Pubertas tarda Constitutional delay of growth and puberty Hypothalamic-pituitary-gonadal axis Pubertal onset Sex steroid replacement
Acute lymphoblastic leukemia
Constitutional delay of growth and puberty
Congenital hypogonadotropic hypogonadism
Central nervous system
Functional hypogonadotropic hypogonadism
Genome-wide association studies
Human chorionic gonadotropin
Insulin-like growth factor-I
Isolated/idiopathic hypogonadotropic hypogonadism
Insulin-like factor 3
Multiple pituitary hormone deficiency
Sex hormone-binding globulin
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