Puberty Disorders

Precocious puberty is defined as the onset of secondary sexual characteristics before the age of 8 in females and before the age of 9 in males.

1. Central (True) Precocious Puberty:
   • Also known as Gonadotropin-Dependent Precocious Puberty.
   • Isosexual (development of secondary sexual characteristics typical of the child's sex).
   • Results from the early activation of the Hypothalamic-Pituitary-Gonadal (HPG) axis.
2. Peripheral (Pseudo) Precocious Puberty:
   • Also known as Gonadotropin-Independent Precocious Puberty.
   • Can be Isosexual (same sex characteristics) or Heterosexual (opposite sex characteristics).
   • Results from the excessive secretion of sex hormones (estrogen or testosterone) independent of the HPG axis.

Causes of Gonadotropin-Dependent Precocious Puberty (GDPP)

1. Organic Brain Lesions:
   • Hypothalamic hamartomas
   • Brain tumors
   • Hydrocephalus
   • Head injury
   • Myelomeningocele
   • Neurofibromatosis
   • Hypothyroidism
2. Idiopathic:
   • Accounts for about 90% of cases in females and 10% in males.

Causes of Gonadotropin-Independent Precocious Puberty (GIPP)

• In Females:
  • McCune-Albright syndrome
  • Ovarian cysts and tumors
  • Congenital Adrenal Hyperplasia (CAH) (virilizing form)
  • Adrenal tumors
  • Exogenous androgens or estrogens
• In Males:
  • Congenital Adrenal Hyperplasia (CAH)
  • McCune-Albright syndrome
  • Testicular tumors
  • Adrenal tumors
  • Mediastinal tumors
  • Hepatoblastoma
  • Familial cases
  • Exogenous estrogens or androgens

Clinical Manifestations of Gonadotropin-Dependent Precocious Puberty (GDPP)

• Sexual Development: Begins and follows the usual sequence, with a potential risk of early pregnancy.
• Growth and Maturity: Affected children have advanced height, weight, and bone maturity, which may lead to short stature (SS) in adulthood due to early closure of growth plates.
• Mental Age and Behavior: Mental age is consistent with chronological age, but children may experience emotional upheavals and mood swings.
• Neurologic Disorders: Other manifestations may include symptoms related to an underlying neurologic disorder.

• Rapidly Progressive: Quick advancement of secondary sexual characteristics.
• Slowly Progressive: Gradual development of sexual characteristics over time.
• Regressive: Symptoms may spontaneously resolve or diminish over time.

Incomplete Forms

• Premature Thelarche: Early breast development without other signs of puberty.
• Premature Adrenarche: Early development of pubic or axillary hair without other puberty signs.
• Premature Menarche: Isolated early menstruation, which is very rare. It is important to rule out sexual abuse in these cases.

• Physical Measurements: Weight, height, and BMI assessment.
• Examination for Secondary Sexual Characteristics: Checking for pubertal signs and hyperpigmentation.
• Pelvic Ultrasound (USS): To assess the uterus and ovaries.
• Cranial Imaging: CT or MRI to rule out central causes.
• Hormonal Testing: LH, estrogen, and testosterone levels.

• GDPP: Treated with GnRH (Gonadotropin-Releasing Hormone) analogues to halt further premature development.
• GIPP: Treatment focuses on addressing the underlying cause, such as removal of tumors or discontinuation of exogenous hormones.

Delayed puberty is defined as the absence of any sign of pubertal development by age 13 in girls and age 14 in boys.

1. Constitutional Delay: A common cause where puberty occurs later than average but eventually progresses normally.
2. Chronic Illness:
   • Sickle Cell Disease (SCD)
   • Diabetes Mellitus
3. Nutritional Factors:
   • Malnutrition, including conditions such as Anorexia Nervosa
   • Female athletes (due to low body fat)
4. Endocrine Disorders:
   • Cushing's Syndrome
   • Hyperprolactinemia

• Hypogonadotropic Hypogonadism: Low levels of gonadotropins (LH and FSH), leading to reduced stimulation of the gonads.
  • Causes include:
    • Kallmann Syndrome: A genetic disorder characterized by anosmia and delayed puberty.
    • CNS abnormalities: Tumors, radiation exposure, congenital malformations.
    • Hypopituitarism: Decreased pituitary function.
• Hypergonadotropic Hypogonadism: High levels of gonadotropins due to primary failure of the gonads.
  • Causes include:
    • Ovarian failure: E.g., Turner Syndrome, radiation, chemotherapy.
    • Testicular failure: E.g., Klinefelter Syndrome, mumps orchitis, undescended testes.

1. History (Hx):
   • Assess for chronic illnesses (e.g., diabetes, sickle cell disease).
   • Evaluate nutritional status (e.g., anorexia nervosa, malnutrition).
   • Obtain family history of pubertal timing (e.g., constitutional delay).
2. Physical Examination (PE):
   • Look for absence of secondary sexual characteristics.
   • Identify any dysmorphic features (e.g., Turner Syndrome, Klinefelter Syndrome).
3. Investigations:
   • Measure gonadotropins (LH, FSH) and sex hormones (estrogen, testosterone).
   • Imaging studies: CT, MRI to assess for CNS abnormalities.
   • Determine bone age (X-ray of the hand/wrist) to assess skeletal maturity.

1. Constitutional Delay:
   • Reassurance: Provide reassurance to the patient and family; puberty is delayed but will eventually progress normally.
2. Hormonal Therapy:
   • Girls: Start with low-dose estrogen therapy; later combine with progesterone once breast development has started.
   • Boys: Administer testosterone to initiate the development of secondary sexual characteristics.