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A. Precocious Puberty [1]

  1. Defined as sexual maturation before age 8 in a girl, age 10 in a boy
    1. True Precocious Puberty - elevated pituitary hormones (LH, FSH, or GnRH)
    2. Pseudoprecocious Puberty - elevated androgens or estrogens, reduced pituitary hormones
    3. In the latter form, high sex steroid levels suppress pituitary hormone levels
  2. Normal variant
  3. Causes of True Precocious Puberty
    1. Occurs ~4 times more frequently in girls than in boys
    2. Pituitary Tumors - usually adenoma
    3. Hypothalamic Hamartomas (both sexes) and Non-CNS Hamartomas (usually in girls)
    4. Neurofibromatosis
    5. Pineal Gland Tumors
  4. Pseudoprecocious Puberty
    1. Hyperandrogenism (adrenal mass, others) - virilizing in most patients
    2. Congenital Adrenal Hyperplasia (CAH) - elevated androgens
    3. Males: HCG secreting (testicular) tumors, pineal gland tumors
    4. Females: ovarian cysts, ovarian cell tumors, rare feminizing adrenal tumors
    5. McCune Albright Syndrome - polyostotic fibrous dysplasia, cafe-au-lait spots

B. Delayed Puberty [2]

  1. Defined as lack of secondary sex characteristics in both sexes by age 13
    1. Girls: lack of breast development by age 13 and/or
    2. Girls: period >5 years between initial breast development and menarche
    3. Boys: lack of testicular enlargement by age 13 and/or
    4. Boys: period >5 years between initial and complete growth of genetalia
    5. Associated in both sexes with stunted growth
  2. Normal variant
  3. Genetic Abnormalities [4]
    1. Often associated with hypogonadism and infertility
    2. Turner Syndrome (XO) - ovarian dysfunction
    3. Kleinfelder Syndrome (XXY) - testicular dysfunction
    4. Kallman's Syndrome (KAL gene mutations)
    5. X-linked Adrenal Hypoplasia (Dax-1 gene mutations)
    6. FSH ß-subunit mutation [3]
    7. Other rare conditions including galactosemia
  4. Pituitary Dysfunction
    1. Pituitary Tumor - adenoma, craniopharyngioma, histiocytic infiltration
    2. Ischemia or Infarction (unusual)
    3. Idiopathic pituitary insufficiency
    4. Abnormal hypothalamic function
  5. Chronic Illnesses
    1. Diabets Mellitus
    2. Chronic Renal Failure
    3. Cardiac Disease
  6. Extreme Excercise and lack of body fat in women

References

  1. Elders MJ, Scott CR, Frindik JP, Kemp SF. 1997. Lancet. 350:457 abstract
  2. Kulin HE. 1996. Clin Endocrinol Metab. 81(10):3460 abstract
  3. Layman LC, Lee EJ, Peak DB, et al. 1997. NEJM. 337(9):607 abstract
  4. Adashi EY and Hennebold JD. 1999. NEJM. 340(9):709 abstract