Delayed or Absent Puberty

Certainly. Here's the detailed information on Delayed or Absent Puberty, presented in the same format:

Introduction to Delayed or Absent Puberty

Delayed puberty is defined as the absence of secondary sexual characteristics by age 13 in girls and age 14 in boys. Absent puberty, also known as pubertal failure, refers to the complete lack of pubertal development by age 18. These conditions represent significant deviations from normal pubertal timing and can have substantial physical and psychological impacts on affected individuals.

Key points to consider:

  • Delayed puberty can be classified as constitutional delay of growth and puberty (CDGP) or pathological delay
  • CDGP is the most common cause, especially in boys
  • Early diagnosis and management are crucial to prevent complications and optimize adult outcomes
  • Treatment aims to initiate pubertal development and optimize final adult height

Etiology of Delayed or Absent Puberty

1. Constitutional Delay of Growth and Puberty (CDGP)

  • Most common cause (60-70% of cases)
  • Normal variant of pubertal timing
  • Often familial

2. Hypogonadotropic Hypogonadism (HH)

  • Congenital causes:
    • Kallmann syndrome
    • Isolated GnRH deficiency
    • CHARGE syndrome
    • Prader-Willi syndrome
  • Acquired causes:
    • CNS tumors (e.g., craniopharyngioma, germinoma)
    • Infiltrative diseases (e.g., histiocytosis, sarcoidosis)
    • Head trauma
    • Radiation therapy

3. Hypergonadotropic Hypogonadism

  • Turner syndrome (girls)
  • Klinefelter syndrome (boys)
  • Gonadal dysgenesis
  • Chemotherapy or radiation-induced gonadal damage
  • Autoimmune ovarian failure

4. Functional Hypogonadotropic Hypogonadism

  • Chronic illnesses:
    • Inflammatory bowel disease
    • Cystic fibrosis
    • Celiac disease
  • Eating disorders
  • Excessive exercise
  • Psychological stress

5. Endocrine Disorders

  • Hypothyroidism
  • Hyperprolactinemia
  • Cushing's syndrome
  • Growth hormone deficiency

Clinical Presentation of Delayed or Absent Puberty

1. General Signs

  • Lack of secondary sexual characteristics at expected age
  • Short stature or decreased growth velocity
  • Delayed bone age

2. Signs in Girls

  • Absence of breast development by age 13
  • Lack of menarche by age 15 or within 3 years of breast development
  • Primary amenorrhea
  • Absent or sparse pubic and axillary hair

3. Signs in Boys

  • Testicular volume <4 mL by age 14
  • Lack of penile enlargement
  • Absent or sparse pubic and axillary hair
  • Lack of voice deepening
  • Poor muscle development

4. Associated Symptoms

  • Fatigue
  • Decreased libido (in older adolescents)
  • Emotional distress or low self-esteem
  • Symptoms related to underlying conditions (e.g., anosmia in Kallmann syndrome)

Diagnosis of Delayed or Absent Puberty

1. Initial Evaluation

  • Detailed history:
    • Family history of pubertal timing
    • Chronic illnesses
    • Nutritional status and eating habits
    • Exercise patterns
    • Medications
  • Physical examination:
    • Height, weight, and BMI
    • Tanner staging
    • Assessment for dysmorphic features
    • 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)
    • Prolactin
    • TSH, free T4
    • IGF-1
  • GnRH stimulation test (to differentiate HH from delayed puberty)
  • Karyotype analysis (especially in girls with primary amenorrhea)
  • AMH and inhibin B (to assess gonadal reserve)

3. Imaging Studies

  • Brain and pituitary MRI (if central cause suspected)
  • Pelvic ultrasound (girls)
  • Testicular ultrasound (boys)
  • Bone densitometry (DEXA scan)

4. Additional Tests

  • Genetic testing (for suspected genetic syndromes)
  • Olfactory testing (for suspected Kallmann syndrome)
  • Celiac disease screening
  • Assessment for other chronic diseases based on clinical suspicion

Treatment of Delayed or Absent Puberty

1. Constitutional Delay of Growth and Puberty (CDGP)

  • Reassurance and observation
  • Short-term sex steroid therapy to initiate puberty:
    • Boys: Low-dose testosterone
    • Girls: Low-dose estrogen

2. Hypogonadotropic Hypogonadism (HH)

  • Sex hormone replacement therapy:
    • Boys: Testosterone replacement (various formulations)
    • Girls: Estrogen replacement, followed by cyclic progestins
  • Gonadotropin therapy (for fertility induction)
  • Treatment of underlying causes (e.g., surgical removal of tumors)

3. Hypergonadotropic Hypogonadism

  • Sex hormone replacement therapy (as in HH)
  • Management of associated conditions (e.g., Turner syndrome, Klinefelter syndrome)

4. Functional Hypogonadotropic Hypogonadism

  • Treatment of underlying condition (e.g., nutritional support, management of chronic diseases)
  • Temporary sex hormone replacement if needed

5. Endocrine Disorders

  • Specific treatment based on the underlying condition:
    • Thyroid hormone replacement for hypothyroidism
    • Dopamine agonists for hyperprolactinemia
    • Management of Cushing's syndrome

6. Psychosocial Support

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

Prognosis and Follow-up of Delayed or Absent Puberty

1. Prognosis

  • Generally good for CDGP with catch-up growth and development
  • Variable for other causes, depending on underlying etiology and treatment response
  • Potential long-term effects:
    • Reduced final adult height
    • Decreased bone mineral density
    • Psychological impacts
    • Fertility issues in some cases

2. Follow-up

  • Regular monitoring of pubertal progression:
    • Physical examination and Tanner staging
    • Growth velocity assessment
    • Bone age X-rays
  • Periodic hormone level measurements
  • Monitoring of bone health (DEXA scans)
  • Adjustment of hormone replacement therapy as needed
  • Fertility counseling and management in adulthood

3. Long-term Considerations

  • Ongoing hormone replacement therapy for permanent hypogonadism
  • Monitoring for potential complications:
    • Osteoporosis
    • Cardiovascular risk factors
    • Metabolic syndrome
  • Psychosocial support and counseling
  • Genetic counseling for hereditary forms

4. Transition to Adult Care

  • Education about long-term health implications
  • Guidance on reproductive health and fertility options
  • Continued psychological support if needed
  • Coordination with adult endocrinologists for ongoing care
External Links for Further Reading
Tags:

Powered by Blogger.