Abnormal Puberty Key Points

*The Tanner stages of puberty in girls are based on breast size and shape and pubic hair distribution. Mean age of milestone attainment is shown in parentheses for the reference population of Marshall and Tanner. Actual age at milestone attainment may vary among individuals and among different study populations.

Figure 35-5 Pubertal milestones for girls. (From Blondell Rd, Foster MB, Dave KC. Disorders of puberty. Am Fam Physician 1999;60:209,223.)

9 years in boys is considered precocious puberty. The Lawson Wilkins Pediatric Endocrine Society guidelines recommend that breast development or pubic hair in white girls before age 7 and black girls before age 6 should be evaluated for precocious puberty. Boys of all races should be evaluated for precocious puberty with signs of secondary sexual development at age 9 or younger (Kaplowitz and Oberfield, 1999). These guidelines are under some debate as setting perhaps too early an age for defining precocity. Some child endocrinologists believe that defining precocity as only those children with sexual development younger than 7 years will lead to missing some conditions that may respond to early intervention; they prefer the formerly used age of less than 8 years in girls to trigger investigation (Carel and L├ęger, 2008; Midyett et al., 2003; Traggiai and Stanhope, 2003). Children with developmental disabilities have a higher incidence of precocity (Siddiqui et al., 1999). However, most patients (>75%) investigated for precocious puberty will have benign diagnoses that are considered normal variations and do not require treatment (Kaplowitz, 2004).

Precocious puberty is classified as central (GnRH dependent) or peripheral (non-GnRH dependent). The peripheral group includes autonomous gonadal activation, gonadal tumors with production of sex steroids, adrenal disorders, and exposure to exogenous agents with properties of sex steroids. Precocious puberty may be differentiated into progressive (one stage to next in 3-6 months) or nonprogressive (no progression of pubertal signs over time). Other terminology is based on the pubertal signs in relation to the individual's gender. Isosexual refers to precocity in the same gender (e.g., feminization of a female). Heterosexual (or contrasexual) would be precocious puberty resulting in viriliza-tion of a female.

Benign variants of precocious pubertal development (incomplete precocious puberty or variations in pubertal development) include nonprogressive precocious puberty, isolated precocious thelarche, isolated precocious pubarche, isolated menarche, and adolescent (male) gynecomastia. Isolated thelarche (unilateral or bilateral breast development) without progression of other signs of puberty generally resolves spontaneously, especially in girls younger than 2 years, and requires no treatment. Isolated precocious pubarche (pubic hair development) as a result of early adrenarche is usually self-limited. Evaluation beyond a complete history, physical examination, and bone-age determination would include ACTH stimulation test to rule out late-onset congenital adrenal hyperplasia. Gynecomastia in adolescent males is common and presents more of a social than a physical problem. Careful explanation with reassurance for the child and parent that this is a self-limited condition is the best approach.

Tanner stage



Pubic hair*



Prepubertal, villus hair only

Basal: about 5.0 to 6.0 cm (2.0 to 2.4 in) per year


Thinning and reddening of scrotum (11.9 years) Testes: 2.5 to 3.2 cm (1.0 to 1.28 in)

Sparse growth of slightly pigmented hair at base of penis (12.3 years)

Basal: about 5.0 to 6.0 cm (2.0 to 2.4 in) per year

Decrease in total body fat

Growth of penis, especially length (13.2 years) Testes: 3.3 to 4.0 cm (1.32 to 1.6 in)

Thicker, curlier hair spreads to the mons pubis (13.9 years)

Accelerated: about 7.0 to 8.0 cm (2.8 to 3.2 in) per year

Gynecomastia (13.2 years) Voice break (13.5 years) Muscle mass

Growth of penis and glands, darkening of scrotum (14.3 years) Testes: 4.1 to 4.5 cm (1.64 to 1.8 in)

Adult-type hair but no spread to medial thigh (14.7 years)

Peak velocity: about 10.0 cm (4.0 in) per year (13.8 years)

Axillary hair (14.0 years) Voice change (14.1 years) Acne (14.3 years)

Adult genitalia (15.1 years) Testes: >4.5 cm (1.8 in)

Adult-type hair with spread to medial thighs but not up linea alba (15.3 years)

Deceleration and cessation (about 17 years)

Facial hair (14.9 years) Muscle mass continues to increase after Stage 5

*The Tanner stages of puberty in boys are based on the development of the genitalia and pubic hair distribution. Mean age of milestone attainment is shown in parentheses for the reference population of Marshall and Tanner. Actual age at milestone attainment may vary among individuals and among different study populations.

Figure 35-6 Pubertal milestones for boys. (From Blondell Rd, Foster MB, Dave KC Disorders of puberty. Am Fam Physician 1999;60:209,223.)

Accidental precocity occasionally results from unusual dietary habits or inappropriate use of medications (estrogen creams). A careful review for these habits early in the evaluation is helpful.

Central (GnRH-Dependent) Precocious Puberty

Central (or true) precocious puberty is caused by early activation of hypothalamic GnRH secretion. Most patients have no identifiable cause, and the precocity is labeled "idiopathic." Initial evaluation begins with history, examination, growth chart, and wrist radiographs. Morning testosterone levels are useful in boys, and GnRH-agonist stimulation tests are helpful in females to identify a central etiology. Various CNS lesions are known to cause central isosexual precocity, so cranial CT or MRI is indicated to rule out these pathologies. An underlying CNS disorder is not unusual in boys presenting with precocious puberty. Treatment is focused on managing the underlying cause. GnRH analogues that reversibly inhibit gonadotropin secretion can be used to prevent secondary sexual development and early epiph-yseal fusion that occurs in children who are very young at the onset of puberty, especially when it progresses rapidly (Carel et al., 2004). Optimal age to discontinue therapy is 11 years. When therapy is discontinued, puberty commences normally. There is a slowly progressive form of central isosexual precocity in which no height is lost. These patients may be considered for a nontherapeutic approach with careful observation (Palmert et al., 1999) (Table 35-4).

In many studies the most common causes of precocity are benign and need no treatment. Detailed evaluation with hormonal studies and imaging may be reserved for patients with severe symptoms and signs (de Vries and Phillip, 2005; Kaplowitz, 2004, 2005).

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