What is the appropriate workup for precocious puberty (Premature Puberty)?

From the Guidelines

The workup for precocious puberty should begin with a thorough history and physical examination, followed by laboratory and imaging studies, with a GnRH stimulation test being the gold standard to differentiate central from peripheral precocious puberty 1. The initial evaluation should include bone age assessment, gonadotropin levels (LH, FSH), sex steroids (estradiol in girls, testosterone in boys), thyroid function tests, and adrenal steroids.

• Key laboratory tests:
  • Gonadotropin levels (LH, FSH)
  • Sex steroids (estradiol in girls, testosterone in boys)
  • Thyroid function tests
  • Adrenal steroids
• Imaging studies should be guided by the results of hormonal studies, with brain MRI being indicated for central precocious puberty, especially in boys or girls under 6 years, to rule out CNS lesions 1.
• Additional testing may include:
  • Serum hCG
  • 17-hydroxyprogesterone
  • DHEAS
  • Genetic testing when indicated Brain MRI is the preferred imaging modality to evaluate the hypothalamic-pituitary axis and parasellar regions, with gadolinium-based contrast adding additional benefit in characterizing lesions 1. The age of the child at symptom onset is important, with girls <6 and boys <9 being most likely to show a central nervous system abnormality and therefore should be screened with MRI 1.
• The likelihood of identifying a central nervous system lesion is lower in girls 6 to 8 years of age, estimated between 2% to 7%, and neoplastic in 1% 1. Treatment depends on the underlying cause, with GnRH agonists being the mainstay for central precocious puberty, effectively suppressing the hypothalamic-pituitary-gonadal axis, halting pubertal progression and preserving adult height potential 1.
• GnRH agonists, such as leuprolide acetate 7.5-15 mg IM monthly or 11.25-30 mg every 3 months, are typically continued until the normal age of puberty (around 11 years in girls and 12 years in boys) 1. Regular monitoring of growth, pubertal development, and bone age is essential to assess treatment efficacy and adjust therapy as needed 1.

From the Research

Precocious Puberty Workup

The workup for precocious puberty involves a combination of clinical evaluation, laboratory tests, and imaging studies. The following are key components of the workup:

• A full, detailed history and physical examination to assess the onset and progression of pubertal changes 2
• Measurement of serum gonadotropins, such as luteinizing hormone (LH) and follicle-stimulating hormone (FSH), and sex steroids, such as testosterone and estradiol 2, 3
• Thyroid function tests to rule out hypothyroidism as a cause of precocious puberty 2, 3
• Radiographic workup, including bone age radiography and pelvic ultrasound, to assess skeletal maturity and ovarian or testicular development 2, 4
• Brain magnetic resonance imaging (MRI) to evaluate for central nervous system lesions, such as hypothalamic hamartoma, in girls under 6 years old, all boys with precocious puberty, and children with neurologic symptoms 3

Laboratory Tests

Laboratory tests play a crucial role in the diagnosis of precocious puberty. The following tests are commonly used:

• Gonadotropin-releasing hormone (GnRH) stimulation test to assess the responsiveness of the hypothalamic-pituitary-gonadal axis 5
• Measurement of LH and FSH levels to distinguish between central and peripheral precocious puberty 2, 3
• Sex steroid levels, such as testosterone and estradiol, to assess the degree of sexual maturation 2, 3

Imaging Studies

Imaging studies are used to evaluate the anatomy of the reproductive system and to detect any abnormalities. The following imaging studies are commonly used:

• Pelvic ultrasound to assess ovarian or testicular development and to detect any tumors or cysts 4
• Brain MRI to evaluate for central nervous system lesions, such as hypothalamic hamartoma 3
• Skeletal survey to assess bone age and skeletal maturity 4

Diagnosis and Management

The diagnosis and management of precocious puberty depend on the underlying cause. The following are key considerations:

• Central precocious puberty is typically treated with gonadotropin-releasing hormone agonists (GnRHa) to suppress the hypothalamic-pituitary-gonadal axis 2, 6
• Peripheral precocious puberty is typically treated with glucocorticoids to suppress adrenal androgen secretion, and in some cases, aromatase inhibitors may be used 2