Pubertal Delay

Aka: Pubertal Delay, Delayed Puberty

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II. Definition

  1. Delayed Adolescence in Phenotypic Male or Female
  2. Girls:
    1. Delayed Breast development
      1. No Breast development by age 13 years
      2. No Breast development 5 years after Menarche
    2. No Menses by age 15 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

III. History

  1. Timing of secondary sexual characteristics
    1. Body odor
    2. Breast Development or Testicular Development
    3. Pubic and axillary hair
    4. Acne
  2. Exposures
    1. Chemotherapy or Radiation Exposure (Hypogonadism)
    2. Head Trauma
  3. Conditions
    1. Cryptorchidism (Hypogonadism)
    2. Turner Syndrome (Webbed Neck, Short Stature)
    3. Family History of Delayed Puberty
  4. Symptoms
    1. Abdominal Pain (gastrointestinal disorders)
    2. Anosmia (Kallmann Syndrome)
    3. Galactorrhea (Hyperprolactinemia)
    4. Headache or Vision changes (intracranial pathology)
    5. Hyperthyroidism or Hypothyroidism symptoms
    6. Vasomotor symptoms in girls, such as Hot Flushes (ovarian insufficiency)
    7. Weight loss, decreased Caloric Intake, excessive Exercise (e.g. Eating Disorder)

IV. 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. Growth Delay (Eating Disorder, systemic disease, Malnutrition)
      2. Short Stature (Turner stature)
      3. Tall Stature (Klienfelter syndrome)
  2. Head and Neck
    1. Thyromegaly (Hypogonadism)
  3. Genitourinary
    1. Sexual maturity staging (Tanner Stage) with delayed findings
    2. Asymmetric Testes (Orchitis, e.g. mumps)
    3. Small, firm Testes (Klinefelter Syndrome)
    4. Vagina
      1. Thin, red instead of dull pink mucosa due to lack of Estrogen exposure (Hypogonadism)
  4. Musculoskeletal
    1. Joint Pain (inflammatory condition)
  5. Neurologic
    1. Focal neurologic deficits (intracranial pathology)

V. Differential Diagnosis

  1. See Hypogonadism
  2. Hypogonadotropic Causes of Delayed Puberty
  3. Hypergonadotropic Causes of Delayed Puberty
  4. Eugonadotropic Causes of Delayed Puberty

VI. Labs (See Evaluation below)

  1. Follicle Stimulating Hormone (FSH)
  2. Luteinizing Hormone (LH)
  3. Estradiol Level (in girls)
  4. Testosterone Level (in boys)
  5. Labs for abnormal Growth Velocity
    1. Serum Thyroid Stimulating Hormone (TSH)
    2. Serum Prolactin
    3. Insulinlike Growth Factor I
  6. Labs for suspected chromosomal abnormalities (Step 2b below)
    1. Consider Chromosome Analysis
  7. Labs for suspected Hypogonadotropic Causes of Delayed Puberty
    1. Consider GnRH Stimulation Test (Step 2a below)

VII. Imaging (See Evaluation below)

  1. Left wrist radiograph for Bone Age
  2. Consider Head MRI (step 2a below)

VIII. 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

IX. Evaluation: Step 2 - Follicle Stimulating Hormone (FSH) and Luteinizing Hormone (LH) interpretation

  1. Above Prepubertal range LH or FSH
    1. Hypergonadotropic Hypogonadism (5-10% of boys, 25% of girls)
    2. Repeat FSH and LH
    3. Obtain karyotype
    4. Refer to pediatric endocrinology
  2. Pubertal range LH or FSH
    1. Constitutional delay of growth and Puberty (see above)
    2. Repeat measurements in 1-3 months
  3. Prepubertal range LH or FSH
    1. Persistent Hypogonadotropic Hypogonadism (10% of boys, 20% of girls)
      1. Dysmorphic features (e.g. Turner Syndrome)
      2. Radiation Exposure
      3. Head Trauma
      4. Brain Tumor
    2. Constitutional delay of growth and Puberty (60% of boys, 30% of girls)
      1. Most common cause of Delayed Puberty (diagnosis of exclusion)
      2. Consistent findings
        1. Delayed Bone Age
        2. Family History of Delayed Puberty (75% have parental Pubertal Delay)
      3. Consider Jump Start Therapy
        1. Indications
          1. Girls over age 13 years and boys over 14 years
          2. No spontaneous Puberty after 6 months of observation
        2. Example protocol for boys
          1. Testosterone cypionate or enanthate 50 -100 mg IM per month
        3. Example protocol for girls
          1. Estradiol 6.2 mcg (25% of 25 mcg patch) applied to skin overnight for 3-6 months
      4. Consider referral to pediatric endocrinology
        1. No pubertal progression after 4-6 months after jump start therapy
    3. Functional Hypogonadotropic Hypogonadism (20% of boys, 20% of girls)
      1. Malnutrition or chronic disease (e.g. Celiac Disease, Diabetes Mellitus, Thyroid disease)

X. Evaluation: Step 3a - 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. Imaging evaluation as above
  4. Management
    1. Counseling and reassurance
    2. Consider sex Hormone Replacement for some patients

XI. Evaluation: Step 3b - 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)

XII. Evaluation: Step 3c - 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

XIII. References

  1. Blondell (1999) Am Fam Physician 60:209-24 [PubMed]
  2. Foster (1992) Obstet Gynecol Clin North Am 19:59-70 [PubMed]
  3. Klein (2017) Am Fam Physician 96(9): 590-99 [PubMed]
  4. Styne (1997) Pediatr Clin North Am 44(2):505-29 [PubMed]

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