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Delayed Puberty

by Andrew Calabria, MD

Delayed puberty is absence of sexual maturation at the expected time.

Delayed puberty may result from constitutional delay (see Endocrine Disorders in Children:Secondary hypogonadism), which often occurs in adolescents with a family history of delayed growth. Prepubertal growth velocity is normal, but skeletal maturation and adolescent growth spurt are delayed; sexual maturation is delayed but normal. Other causes include Turner syndrome in girls (see Turner Syndrome), Klinefelter syndrome in boys (see Endocrine Disorders in Children:Primary hypogonadism), CNS disorders (eg, pituitary tumors that reduce gonadotropin secretion), CNS radiation, certain chronic disorders (eg, diabetes mellitus, inflammatory bowel disorders, renal disorders, cystic fibrosis), Kallman syndrome, and excess physical activity, especially in girls.

In girls, delayed puberty is diagnosed if one of the following occurs:

  • No breast development by age 13

  • > 5 yr elapse between the beginning of breast growth and menarche

  • Menstruation does not occur by age 16

In boys, delayed puberty is diagnosed if one of the following occurs:

  • No testicular enlargement by age 14

  • > 5 yr elapse between initial and complete growth of the genitals

Short stature may indicate delayed puberty in either sex. Although many children seem to be starting puberty earlier than in past years, there are no indications that the criteria for delayed puberty should change.

Constitutional delay of puberty is more prevalent in boys (see Endocrine Disorders in Children:Secondary hypogonadism). Girls with severe pubertal delay should be investigated for primary amenorrhea (see Amenorrhea). If boys show no sign of pubertal development or of skeletal maturation beyond 11 to 12 yr by age 14, they may be given a 4- to 6-mo course of testosterone enanthate 50 to 100 mg IM once/mo. These low doses induce puberty with some degree of virilization and do not jeopardize adult height potential.

Unless there are early physical signs of puberty, distinguishing constitutional delay of puberty from permanent causes of hypogonadotropic hypogonadism can be difficult. Chronic disorders can delay puberty by causing inadequate nutrition and impairing gonadotropin-releasing hormone release. Permanent forms of hypogonadotropic hypogonadism are more likely if there is a lack of response to 1 or 2 short courses of testosterone. When suspected, other pituitary hormones should be reevaluated, because hypogonadotropic hypogonadism can be isolated or associated with other hormone deficiencies. About one third of cases of idiopathic hypogonadotropic hypogonadism are genetic, and Kallman syndrome is the most common cause (see Endocrine Disorders in Children:Secondary hypogonadism). If other pituitary hormone deficiencies are noted, specific genetic abnormalities can be identified (eg, PROP1 ).

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