Precocious Puberty

Aka: Precocious Puberty, Premature Sexual Development

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II. Epidemiology

  1. Girls: Benign central cause in 50 to 90%
  2. Boys: Pathologic peripheral cause in 50%

III. Definitions: Precocious Puberty

  1. Female Precocious Puberty
    1. Secondary sexual characteristics before age 8 years in girls
    2. Breast gland development
      1. Abnormal if before age 7-8 years
      2. Most will have onset after age 8 years, but occurs age 7-8 years in 20% of black, 5-10% of white girls
      3. Early Breast gland development (at age 7-8 years) also occurs with Obesity
    3. Menarche before age 10 years
    4. Pubic Hair (modified 1999)
      1. White: Before age 7 years
      2. Black: Before age 6 years
    5. Referral recommended if 2 signs at age <8 years
    6. References
      1. Kaplowitz (1999) Pediatrics 104:936-41 [PubMed]
      2. Midyett (2003) Pediatrics 111:47-51 [PubMed]
  2. Male Precocious Puberty
    1. Testes > 2.5 cm (>3 ml vol) before age 9 years
    2. Pubic hair before age 9 years

IV. History

  1. Timing of secondary sexual characteristics
    1. Body odor
    2. Breast Development or Testicular Development
    3. Pubic and axillary hair
    4. Acne
    5. Exposures
    6. Exogenous sex steroids
    7. Head Trauma
    8. Radiation Therapy or exposure
  2. Other history
    1. Family History of Precocious Puberty
    2. Brain malignancy
    3. Meningoencephalitis
    4. Cranial radiation
    5. Cranial surgery
    6. Head Trauma
  3. Symptoms
    1. Hypothyroidism or Hyperthyroidism symptoms
    2. Abdominal Pain (malignancy)
    3. Vaginal Bleeding
      1. Genital Trauma or sexual abuse
      2. McCune-Albright Syndrome
    4. Neurologic Symptoms
      1. Headache
      2. Seizure
      3. Vision change

V. Exam

  1. Constitutional
    1. Plot height, weight and Body Mass Index on growth curves
      1. Calculate Growth Velocity
      2. Calculate Midparental Height
      3. Compare Midparental Height with projected height from growth curve
        1. Abnormal if difference >10 cm
    2. Findings
      1. Body mass increased (associated with Precocious Puberty)
      2. Pubertal growth spurt (greater than the 5 cm basal rate)
      3. Short Stature (Thyroid disease)
  2. Head and Neck
    1. Thyromegaly
  3. Genitourinary
    1. Sexual maturity staging (Tanner Stage)
    2. Asymmetric Testes (gonadal mass)
    3. Clitoromegaly (Hyperandrogenism)
    4. Vagina
      1. Dull pink instead of red due to Estrogen exposure
  4. Neurologic
    1. Focal neurologic deficits (intracranial lesion)
  5. Skin
    1. Hirsutism
      1. Hyperandrogenism (androgen-Secreting tumor, Congenital Adrenal Hyperplasia)
    2. Cafe Au Lait spots
      1. McCune-Albright Syndrome
      2. Neurofibromatosis

VI. Findings: Red Flags suggesting pathologic cause

  1. Premature Puberty in very young children
  2. Contrasexual development
    1. Feminization in boys
    2. Virilization in girls
  3. Peripheral cause (often asynchronous development)
    1. Penis enlarges without scrotal enlargement
    2. Extensive pubic Hair Growth
    3. Menarche without Breast bud development in girls
  4. Precocious Puberty in boys (50% pathologic)
  5. Visual Field Deficit suggests pituitary mass

VII. Causes

  1. See Precocious Puberty Causes

VIII. Labs (See Evaluation below)

  1. Labs may not needed for early Puberty in age >6 years (esp. without red flags and consistent with normal variation)
  2. First-line early morning labs
    1. Follicle Stimulating Hormone (FSH)
    2. Luteinizing Hormone (LH)
    3. Estradiol Level (in girls)
    4. Total Testosterone Level (in boys)
    5. Thyroid Stimulating Hormone (TSH)
  3. Other testing if indicated
    1. Serum Human Chorionic Gonadotropin (HCG)
      1. Screen for gonadotropin Secreting tumor in males
    2. Consider GnRH Stimulation Test
    3. Hyperandrogenism or Virilization signs or symptoms (see additional evaluation for Step 2c below)
      1. Total Testosterone
      2. 17-Hydroxyprogesterone
      3. Serum Dehydroepiandrosterone (Serum DHEA)

IX. Imaging (See Evaluation below)

  1. See additional evaluation for Step 2c below
  2. Left hand Bone Age Film
  3. Head MRI contrast enhanced (including sella turcica)
    1. Screen for pituitary or other CNS Lesion
    2. Indications
      1. Focal neurologic deficits, Headache, Seizure, Vision change or Polyuria, polydipsia
      2. Central Precocious Puberty (female age <6 years, male age <9 years)
  4. Abdominal Imaging (MRI or Ultrasound)
    1. Indicated in elevated Estradiol levels
    2. Indicated in Hyperandrogenism or Virilization
    3. Indicated in elevated Serum DHEA, 17-Hydroxyprogesterone or Total Testosterone in girls
  5. Testicular Ultrasound
    1. Indicated in asymmetric Testes

X. Evaluation: Step 1 - Initial Evaluation

  1. Clinical history and physical
  2. Exogenous Sex Hormone sources
    1. Androgens and Anabolic Steroids in boys
    2. Oral Contraceptive use in girls
    3. Estrogen or placental containing hair products
      1. Common use in African American girls
      2. Associated with Breast or pubic hair development
  3. Evaluate Pubertal Milestones (See Tanner Staging)
  4. Evaluate growth chart
  5. Obtain Left Wrist XRay for Bone Age

XI. Evaluation: Step 2a - Unremarkable Evaluation in Step 1 (Constitutional or Idiopathic Precocious Puberty)

  1. Findings
    1. Early, but normal Puberty
      1. Girls: Breasts enlarge early
      2. Boys: Testicles enlarge early
    2. Bone Age is GREATER than Chronological Age (key distinction from step 2b below)
      1. Early growth spurt and initially taller than peers
      2. Early epiphyseal closure and short in adulthood
  2. Diagnosis
    1. Constitutional or Idiopathic Precocious Puberty
  3. Further evaluation
    1. Observation
    2. Consider further diagnostic testing (see above)
      1. All labs at pubertal levels
      2. All imaging studies normal
  4. Management
    1. Counseling and reassurance
    2. Consider GnRH analog to suppress FSH and LH
      1. Leuprolide (Lupron) long acting injectable
      2. Nafarelin (Synarel) short acting intranasal

XII. Evaluation: Step 2b - Normal Variation in Step 1 (Benign Variations of Early Puberty)

  1. Findings
    1. Early, but normal Puberty
    2. Bone Age consistent with Chronological Age
  2. Diagnosis: Common Benign Variations of Early Puberty
    1. Girls
      1. Fatty Breast tissue (Lipomastia)
      2. Benign Premature Thelarche
        1. Glandular Breast tissue
        2. Indications to refer to pediatric endocrinology (based on serial exams every 3-6 months)
          1. Progressive Breast development
          2. See general referral indications below
      3. Benign premature Menarche
        1. Prepubertal Vaginal Bleeding
        2. Evaluate for secondary causes
          1. Hypothyroidism
          2. McCune-Albright Syndrome
          3. Genital Trauma
          4. Vaginal foreign body
          5. Pelvic mass
          6. Vaginal or Pelvic infection
        3. Consider pediatric endocrinology referral for Menorrhagia, continuous or recurrent bleeding
      4. Benign Premature Adrenarche
        1. Pubic and axillary hair, body odor or acne
        2. Distinguish from Congenital Adrenal Hyperplasia, Cortisol excess, adrenal tumor (see step 2c)
        3. Indications for pediatric endocrinology
          1. Pathologic adrenal causes suspected (esp. age <6 years)
          2. Virilization
          3. See general referral indications below
    2. Boys
      1. Benign Gynecomastia of Adolescence
      2. Familial Gynecomastia
      3. Consider evaluation for alternative causes of persistent Gynecomastia for >18-24 months
        1. Testicular Cancer
        2. Adrenal Adenoma
        3. Performance enhancing drugs
        4. Hypogonadism (e.g. Klinefelter Syndrome)
    3. Infants
      1. Isolated Pubic Hair in Infancy
        1. Evaluate for exgenous exposure to Hormones (Testosterone gel, Estrogen Creams)
        2. Evaluate for endocrine disruptors (e.g. Pesticides, BPA, phthalates, flame retardants)
        3. Evaluate for red flag findings (e.g. other signs of Puberty)
        4. Isolated pubic hair of infancy typically resolves by age 6-24 months
      2. Minipuberty of infancy
        1. Transient activation of hypothalamic-pituitary axis after birth
          1. Onset day of life 1 week with peak at 2-3 months of age
          2. Resolves by age 6 months in males and 2-4 years in females
        2. Transient elevation of sex Hormones (Estradiol, Testosterone)
          1. Acne
          2. Males with mild, self-limited Penile Growth
          3. Females with small Breast development, uterine enlargement or Vaginal Bleeding
        3. Evaluation
          1. Benign and resolves without treatment
          2. Evaluate for other associated abnormalities suggesting endocrinopathy
          3. Consider labs (FSH, LH and sex Hormones)
  3. Further evaluation
    1. Observation over 3-6 months
    2. General pediatric endocrinology referral indications (in addition to specific indications above)
      1. Associated other signs of pubertal development
      2. Increased Growth Velocity
      3. Advanced Bone Age
    3. Consider further laboratory testing and pediatric endocrinology referral for progressive symptoms
      1. See diagnostics above and Step 2c below
  4. Management
    1. Counseling and reassurance

XIII. Evaluation: Step 2c - Abnormal Evaluation in Step 1

  1. Findings
    1. Abnormal Pubertal Milestone sequence
    2. Bone Age variable
      1. May be consistent with Chronological Age
  2. Differential Diagnosis (pathologic cause suspected)
    1. See Precocious Puberty Causes
    2. Central Precocious Puberty due to idiopathic or CNS Lesion (pubertal LH and gonad size)
      1. Features
        1. Despite Precocious Puberty, otherwise normal development
        2. More common in girls than boys (by 10 fold)
        3. Typically idiopathic in girls, but more likely to be pathologic in boys (e.g. Head Trauma, Brain Tumor)
      2. Consider Gonadotropin Releasing Hormone (GnRH) therapy (e.g. Lupron)
        1. Early initiation before epiphyseal closure preserves height potential
      3. Brain MRI indications
        1. Boys with Precocious Puberty (age <9 years)
        2. Girls under age 6 years old
        3. Neurologic findings (Headache, Seizure, Vision changes)
    3. Peripheral Precocious Puberty (prepubertal LH and gonad size)
      1. Congenital Adrenal Hyperplasia, Cortisol excess, adrenal tumor
        1. Consider Corticotropin Stimulation Test, adrenal imaging, Cushing Syndrome
        2. Endocrinology referral
      2. Exogenous sex steroid exposure
      3. Hypothyroidism
      4. Ovarian tumor
        1. Elevated Estradiol level and low LH level seen with Estrogen-Secreting tumors
      5. Testicular Tumor
      6. McCune-Albright Syndrome
      7. Neurofibromatosis
  3. Further evaluation
    1. Further laboratory testing (see above)
    2. Additional lab testing (esp. Virilization, hyperandrogenic effects in girls)
      1. Total Testosterone
      2. 17-Hydroxyprogesterone
      3. Serum Dehydroepiandrosterone (Serum DHEA)
    3. Additional imaging (suspect peripheral cause)
      1. Pelvic Ultrasound of Ovaries
      2. Consider MRI Abdomen and Pelvis (including adrenal MRI)
  4. Management
    1. Assess for exogenous sex steroid exposure
    2. Treat based on underlying cause

XIV. References

  1. Blondell (1999) Am Fam Physician 60:209-24 [PubMed]
  2. Brown (2025) Am Fam Physician 112(5): 513-21 [PubMed]
  3. Fahmy (2000) Br J Radiol 73(869):560-7 [PubMed]
  4. Foster (1992) Obstet Gynecol Clin North Am 19:59-70 [PubMed]
  5. Klein (2017) Am Fam Physician 96(9): 590-99 [PubMed]
  6. Styne (1997) Pediatr Clin North Am 44(2):505-29 [PubMed]
  7. Tiwary (1998) Clin Pediatr 37(12):733-9 [PubMed]
  8. Walvoord (1999) Pediatrics 104(4):1010-4 [PubMed]

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