Puberty

Adolescence is a period of physical, cognitive, and social growth and development. This section will focus on the development of secondary sex characteristics during puberty. Timing of puberty (whether early, normal, or late) can affect how adolescents interact with their peers. Health care providers should be familiar with normal development to provide reassurance as well as appropriate evaluation and treatment when indicated.

The hypothalamic-pituitary-gonadal axis is responsible for signaling in puberty. At the beginning of puberty, the hypothalamus produces gonadotropin-releasing hormone in a pulsatile manner, stimulating luteinizing hormone (LH) and follicle-stimulating hormone (FSH). LH and FSH then stimulate the ovaries or testes, which promote gametogenesis and sex steroid production.

Physical Exam

The physical exam is an important tool to evaluate whether and how an adolescent is progressing through puberty. Specifically, this exam allows you to assess the sexual maturity rating, also known as Tanner staging.

(Source: Precocious Puberty. N Engl J Med 2008.)

Note: Adolescents may remove their pubic hair, through shaving, waxing, or other hair removal products, making it more challenging to assess sexual maturity rating. A useful tip is to look at the distribution of the hair follicles.

Gynecomastia

Gynecomastia is the presence of glandular breast tissue in sex assigned at birth males. This is a common finding during puberty, but the exact pathogenesis is unknown. Most cases are idiopathic and will self-resolve within 12 to 18 months. However, some cases are caused by medications (e.g., psychoactive medications, cardiovascular drugs, and antiepileptics) and recreational substances (e.g., marijuana, anabolic steroids). Other causes, including Klinefelter syndrome (47, XXY) and testicular cancer, can be ruled out by a thorough history and physical. Concerning exam findings include prepubertal age, a breast mass eccentric to the areola, rapid growth, and persistence for longer than 12 to 18 months. If present, consider an ultrasound and laboratory testing for endocrinopathies. Patients with gynecomastia should be assessed for effects on mental health and interaction with peers. If symptoms are persistent and bothersome, treatment may include surgical intervention.

Precocious Puberty

Normal age of onset of puberty has been debated recently. The following definitions for precocious puberty are useful for primary care providers. Specialists, such as pediatric endocrinologists, may use lower age cutoffs.

Definitions for precocious puberty:

• females: pubertal onset before age 8 years

• males: pubertal onset before age 9 years

Early puberty can be a normal variant, but it is important to take a thorough history (including family history), perform a comprehensive physical exam, review growth charts, and obtain laboratory testing and imaging as needed. Laboratory testing should start with LH, FSH, and estradiol or testosterone based on the adolescent’s sex assigned at birth. Precocious puberty is more common and more likely to be idiopathic in females. Males are more likely to have an identified cause.

Delayed Puberty

Delayed puberty can also be a normal variant. Nonetheless, it is important to take a thorough history (including family history), review growth charts, perform a physical exam, and obtain laboratory testing and imaging as needed. Assessment for constitutional delay of growth and puberty based on history and exam is also important.

Definitions for delayed puberty:

• females: absence of secondary sexual characteristics (e.g., thelarche) by age 13 years

• males: absence of secondary sexual characteristics (e.g., testicular enlargement) by age 14 years

• absence of secondary sexual characteristics by age 18 years: abnormal and consistent with hypogonadism