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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Related Studies

Ontology: Delayed Puberty (C0034012)

Definition (NCI) Unusually late sexual maturity.
Definition (NCI_CTCAE) A disorder characterized by unusually late sexual maturity.
Definition (MSH) The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.
Concepts Pathologic Function (T046)
MSH D011628
ICD10 E30.0
SnomedCT 267487003, 154715005, 123526007, 400003000, 39760001
English Puberty, Delayed, delayed puberty (diagnosis), delayed puberty, Delayed Puberty, Puberty, Delayed [Disease/Finding], puberty delayed, Delayed;puberty, delay puberty, Delayed pubertal development, Delayed puberty (& [NOS]), Puberty - delayed, Delayed puberty (& [NOS]) (disorder), Delayed puberty NOS, Sexual development retarded, Delayed puberty, Delayed sexual development, Delay in sexual development AND/OR puberty (disorder), Delay in sexual development AND/OR puberty, Delayed puberty (disorder), delayed; development, sexual, delayed; puberty, development; delayed, sexual, puberty; delayed, puberty; delay, sexual; development delayed, Delay in sexual development AND/OR puberty (finding)
Italian Pubertà ritardata, Ritardo puberale
Japanese ｼｼｭﾝｷﾁﾊﾂｼｮｳ, 思春期遅発症, 性発育不全, 性発育遅延, 性的晩熟, 性的遅熟, 晩発思春期, 遅発思春期, 遅発症-思春期
Czech puberta opožděná, Opožděná puberta
Finnish Viivästynyt murrosikä
Russian POLOVOGO RAZVITIIA ZADERZHKA, ПОЛОВОГО РАЗВИТИЯ ЗАДЕРЖКА
German Verzoegerte Pubertaet [Pubertas tarda], verzoegerte Pubertaet, Pubertas tarda, Pubertät, verspätete
Korean 사춘기 지연
Croatian PUBERTET, ZAKAŠNJELI
Swedish Pubertet, fördröjd
Hungarian Késői pubertas
Polish Dojrzewanie płciowe opóźnione, Pokwitanie opóźnione, Opóźnione dojrzewanie płciowe
Norwegian Pubertet, forsinket, Forsinket kjønnsutvikling, Pubertas tarda, Forsinket pubertet
Dutch ontwikkeling; vertraagd, seksueel, puberteit; vertraagd, puberteit; vertraging, seksueel; ontwikkeling vertraagd, vertraagd; ontwikkeling, seksueel, vertraagd; puberteit, vertraagde puberteit, Puberteit (ontwikkelingstoestand); vertraagd, Vertraagde puberteit
Spanish pubertad tardía (hallazgo), pubertad tardía (trastorno), pubertad tardía, retraso del desarrollo sexual Y/O puberal (trastorno), retraso del desarrollo sexual Y/O puberal, Pubertad retardada, Pubertad Tardía
Portuguese Puberdade atrasada, Puberdade Tardia
French Puberté tardive, Retard pubertaire, Puberté retardée, Retard de la puberté
Derived from the NIH UMLS (Unified Medical Language System)

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