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Pubertal DelayAka: Delayed Puberty

Definition
1. Delayed Adolescence in Phenotypic Male or Female
2. Girls:
  1. Delayed breast development
    1. No breast development by age 14 years
    2. No breast development 5 years after Menarche
  2. No Menses by age 16 years (Primary Amenorrhea)
3. Boys:
  1. Testicular length under 2.5 cm by age 14 years
  2. Genital growth not complete five years from start
Differential Diagnosis
Labs (See Evaluation below)
1. Follicle Stimulating Hormone (FSH)
2. Luteinizing hormone (LH)
3. Estradiol Level (in girls)
4. Testosterone Level (in boys)
5. Consider GnRH Stimulation Test (Step 2a below)
6. Consider Chromosome Analysis (Step 2b below)
Radiology (See Evaluation below)
1. Left wrist radiograph for bone age
2. Consider Head MRI (step 2a below)
Evaluation Step 1: Initial Evaluation
1. Clinical history and physical
2. Evaluate Pubertal Milestones (See Tanner Staging)
3. Evaluate growth chart
4. Obtain Left Wrist XRay for bone age
Evaluation Step 2a: Unremarkable Evaluation in Step 1
1. Findings
  1. Unremarkable exam except Delayed Puberty
  2. Patient has not yet experienced growth spurt
  3. Bone age less than chronological age
2. Differential Diagnosis
  1. Constitutional delay
  2. See Hypogonadotropic Causes of Delayed Puberty
  3. Primary gonadal failure
  4. Serious athletic training
3. Further evaluation
  1. Observation
  2. Laboratory testing as above
  3. Radiology evaluation as above
4. Management
  1. Counseling and reassurance
  2. Consider sex Hormone Replacement for some patients
Evaluation Step 2b: Suspect Chromosomal Abnormality
1. Findings
  1. Abnormal exam suggests chromosomal abnormality
  2. Bone age may be less than chronological age
2. Diagnosis
  1. Girls: Turner's Syndrome
  2. Boys: Klinefelter's Syndrome
  3. Noonan's Syndrome
3. Further evaluation
  1. Chromosome analysis
4. Management
  1. Counseling
  2. Sex Hormone Replacement
  3. Oophorectomy in Turner's Syndrome (malignancy risk)
Evaluation Step 2c: Suspect Chronic Disease in Step 1
1. Findings suggestive of chronic disease
  1. Overt chronic illness signs or symptoms
  2. Short stature
  3. Slow growth rate
  4. Bone age less than chronological age
2. Differential Diagnosis
  1. Anorexia Nervosa
  2. Malnutrition
  3. Kallmann's Syndrome
    1. Hypopituitarism
    2. Anosmia or Hyposmia
    3. Hypogonadotropic Hypogonadism
  4. Iatrogenic
  5. Hypopituitarism
    1. Findings
      1. Growth failure
      2. Hypothyroidism
      3. Adrenal Insufficiency
      4. Diabetes Insipidus
      5. Delayed Puberty
    2. Causes
      1. Intracranial lesion (esp. involving pituitary)
      2. Infection of pituitary gland (e.g. Tuberculosis)
      3. Head Injury
  6. Chronic Systemic Illness
    1. Malignancy
    2. Chronic infection
    3. Chronic metabolic disease
3. Further evaluation
  1. Work-up suspected underlying chronic disease
References

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This page was written by Scott Moses, MD, and was last revised 1/26/2008. Please send comments and questions to the editor. Contact information may be found on the page About the Family Practice Notebook. These pages are best viewed with Microsoft Internet Explorer 5.0.