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Precocious Puberty

Introduction to Precocious Puberty

Precocious puberty is defined as the onset of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. It represents a significant deviation from the normal timing of pubertal development and can have profound physical and psychological impacts on affected children.

Key points to consider:

  • Precocious puberty can be central (gonadotropin-dependent) or peripheral (gonadotropin-independent)
  • It affects girls more commonly than boys
  • Early diagnosis and management are crucial to prevent complications
  • Treatment aims to halt pubertal progression and preserve adult height potential

Etiology of Precocious Puberty

1. Central Precocious Puberty (CPP)

  • Idiopathic (most common cause, especially in girls)
  • Central Nervous System disorders:
    • Hypothalamic hamartomas
    • Optic gliomas
    • Arachnoid cysts
    • Hydrocephalus
    • Brain tumors (e.g., astrocytomas, craniopharyngiomas)
  • Prior radiation to the brain
  • Genetic causes (e.g., mutations in KISS1, KISS1R, MKRN3 genes)

2. Peripheral Precocious Puberty (PPP)

  • Ovarian causes:
    • Ovarian cysts or tumors (e.g., granulosa cell tumors)
    • McCune-Albright syndrome
  • Testicular causes:
    • Leydig cell tumors
    • hCG-secreting tumors
  • Adrenal causes:
    • Congenital adrenal hyperplasia
    • Adrenal tumors
  • Exogenous hormone exposure
  • Severe primary hypothyroidism (Van Wyk-Grumbach syndrome)

Clinical Presentation of Precocious Puberty

1. General Signs

  • Accelerated growth velocity
  • Advanced bone age
  • Early development of secondary sexual characteristics

2. Signs in Girls

  • Breast development (thelarche)
  • Pubic and axillary hair growth (pubarche)
  • Menarche
  • Acne
  • Adult body odor

3. Signs in Boys

  • Testicular enlargement (>4 ml in volume or >2.5 cm in length)
  • Penile enlargement
  • Pubic and axillary hair growth
  • Facial hair growth
  • Voice deepening
  • Acne
  • Adult body odor

4. Associated Symptoms

  • Headaches or visual disturbances (if CNS lesion present)
  • Abdominal pain (if ovarian or adrenal tumors present)
  • Behavioral changes
  • Mood swings

Diagnosis of Precocious Puberty

1. Initial Evaluation

  • Detailed history:
    • Onset and progression of pubertal signs
    • Family history of early puberty
    • Exposure to exogenous hormones
  • Physical examination:
    • Height, weight, and BMI
    • Tanner staging
    • Neurological examination
  • Growth chart evaluation
  • Bone age assessment (X-ray of left hand and wrist)

2. Laboratory Tests

  • Baseline hormone levels:
    • LH, FSH
    • Estradiol (girls) or Testosterone (boys)
    • DHEAS, 17-hydroxyprogesterone
    • TSH, free T4
  • GnRH stimulation test (gold standard for diagnosing CPP)
  • hCG levels (in boys, if suspecting hCG-secreting tumors)

3. Imaging Studies

  • Brain MRI (to evaluate for CNS lesions in CPP)
  • Pelvic ultrasound (girls)
  • Testicular ultrasound (boys)
  • Adrenal imaging (if adrenal pathology suspected)

4. Additional Tests

  • Genetic testing (for familial cases or suspected genetic syndromes)
  • 24-hour urinary free cortisol (if Cushing's syndrome suspected)

Treatment of Precocious Puberty

1. Central Precocious Puberty (CPP)

  • GnRH analogs (GnRHa):
    • Leuprolide acetate
    • Triptorelin
    • Histrelin implant
  • Treatment of underlying causes (e.g., surgical removal of CNS tumors)

2. Peripheral Precocious Puberty (PPP)

  • Treatment of underlying cause:
    • Surgical removal of tumors
    • Management of congenital adrenal hyperplasia
  • Medications:
    • Aromatase inhibitors (e.g., anastrozole) for estrogen excess
    • Androgen receptor antagonists (e.g., spironolactone) for androgen excess
    • Ketoconazole for Cushing's syndrome

3. Monitoring and Follow-up

  • Regular assessment of growth velocity and bone age
  • Periodic hormone level measurements
  • Tanner stage progression monitoring
  • Adjustment of treatment as needed

4. Psychosocial Support

  • Counseling for patients and families
  • School interventions if needed
  • Support groups

5. Considerations for Treatment Cessation

  • Typically around age 11 in girls and 12 in boys
  • Based on bone age, height velocity, and psychosocial factors

Complications and Follow-up of Precocious Puberty

1. Short-term Complications

  • Rapid growth leading to tall stature in childhood
  • Psychological distress
  • Social isolation
  • Increased risk of sexual abuse

2. Long-term Complications

  • Reduced final adult height due to early epiphyseal fusion
  • Increased risk of:
    • Polycystic ovary syndrome
    • Breast cancer (in girls)
    • Testicular cancer (in boys)
  • Potential impact on reproductive function
  • Psychological issues extending into adulthood

3. Follow-up

  • Regular monitoring during treatment:
    • Every 3-6 months: physical examination, growth assessment
    • Every 6-12 months: bone age X-ray
    • Periodic hormone level measurements
  • Monitoring for treatment side effects
  • Reassessment of need for continued treatment
  • Long-term follow-up into adulthood

4. Transition to Adult Care

  • Education about long-term health implications
  • Guidance on reproductive health
  • Continued psychological support if needed




Disclaimer

The notes provided on Pediatime are generated from online resources and AI sources and have been carefully checked for accuracy. However, these notes are not intended to replace standard textbooks. They are designed to serve as a quick review and revision tool for medical students and professionals, and to aid in theory exam preparation. For comprehensive learning, please refer to recommended textbooks and guidelines.





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