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  Delayed puberty
 
Authors: Claude Migeon, M.D., Amy Wisniewski, Ph.D. Last modified: October 15, 2001
DIAGNOSTIC CRITERIA

  EPIDEMIOLOGY

  • Delayed puberty in boys can result from either hypogonadotropic hypogonadism or hypergonadotropic hypogonadism.
  • In cases of hypogonadotropic hypogonadism the most common presentation is constitutional delay. In these boys testicular function, and thus sexual maturation, will come normally with time.
  • In cases of hypogonadotropic hypogonadism not associated with constitutional delay, the etiology can be temporary hypopituitarism due to malnutrition, systemic disease or psychosocial dwarfism.
  • Hypogonadotropic hypogonadism not associated with constitutional delay can also be due to permanent hypopituitarism resulting from constitutional abnormalities, tumors, lesions or trauma of the CNS.
  • Delayed puberty due to hypergonadotropic hypogonadism can result from chromosomal abnormalities or primary testicular failure.
  • Chromosomal abnormalities include Klinefelter syndrome (47,XXY or variants), 46,XX males, 47,XYY and Mixed Gonadal Dysgenesis (45,X0/46,XY).
  • Primary testicular failure can be due to anorchia, Noonan's Syndrome, Partial Gonadal Dysgenesis, auto-immune disease, radiation/chemotherapy, and bilateral gonadal tumors or trauma.

  RISK FACTORS

  • A family history of constitutional delay.
  • Malnutrition and other forms of stress.
  • Auto-immune disease.
  • Radiation/chemotherapy.
  • Systemic disease.
  • CNS insult.
  • Septo-optic dysplasia.
  • Bilateral gonadal tumors or trauma.
  • Kallmann syndrome.
  • Noonan syndrome.
  • Prader-Willi syndrome.
  • Klinefelter syndrome.

  SIGNS AND SYMPTOMS

  • Normal male puberty starts with enlargement of the testes, appearance of pubic hair followed by axillary and facial hair (Tanner Stges II to V), increased penile length and spermatogenesis.
  • If signs of puberty are not evident in boys by 14 years of age, a work-up for delayed puberty is warranted.
  • If 5 or more years lapse between the onset of puberty and subsequent signs of maturation, pubertal arrest should be considered.

  DIFFERENTIAL DIAGNOSIS

  • Hypergonadotropic hypogonadism versus hypogonadotropic hypogonadism.
  • In cases of hypogonadotropic hypogonadism, distinguish constitutional delay from hypothalamic or pituitary hormone deficiency.
  • In cases of hypothalamic or pituitary hormone deficiency, identify temporary versus permanent deficiency with pituitary function tests.
  • In cases of hypergonadotropic hypogonadism, obtain a karyotype.

  LABORATORY FINDINGS

  • LH and FSH levels differentiate between hypergonadotropic hypogonadism and hypogonadotropic hypogonadism. Blood must be obtained at 8 a.m. as these are secreted during early morning at early puberty.
  • In cases of hypergonadotropic hypogonadism, history will reveal some causes for primary testicular failure such as familial auto-immune disease, radiation/chemotherapy or bilateral gonadal trauma.
  • Physical exam will reveal small or absent testes resulting from anorchia, Noonan\'s syndrome or other testicular disorders.
  • A karyotype will reveal chromosomal abnormalities such as Klinefelter syndrome, 46,XX males, 45,X0/46,XY Mixed Gonadal Dysgenesis and 47,XYY.
  • In cases of hypogonadotropic hypogonadism, temporary hypothalamic or pituitary deficiency related to malnutrition or stress can be discovered with examination of a growth chart and physical exam.
  • Permanent hypothalamic or pituitary deficiency is screened with an MRI of the head and study of all pituitary hormones.
  • Constitutional delay is a diagnosis of exclusion; it can be suggested by family history of constitutional delay.
 
TREATMENT
ENDOCRINE TREATMENT OF CONSTITUTIONAL DELAY
  • Although boys with constitutional delay will eventually complete sexual maturation without treatment, small doses of testosterone can be administered for the psychosocial benefit to patients.
  • In cases of constitutional delay, 4 to 6 I.M. injections of testosterone enanthate or cypprionate (100 mg) spaced 3 to 4 weeks apart is appropriate.
ENDOCRINE TREATMENT OF HYPERGONADOTROPIC HYPOGONADISM AND PERMANENT HYPOPITUITARISM
  • In cases of hypergonadotropic hypogonadism and permanent hypogonadotropic hypopituitarism, life-long testosterone treatment is needed.
  • Treatment is initiated at a small dose (50-100 mg I.M.) every 3-4 weeks at the appropriate psychosocial stage in development.
  • With final height taken into consideration, the adult testosterone replacement is 300 mg I.M. every 3 weeks. Patches can be used, but are more expensive.
  • In cases of pan-hypopituitarism, replacement of several hormones is needed (thyroxine, growth hormone, cortisol, posterior pituitary hormones).
 
IMPORTANT POINTS/RECOMMENDATIONS
  • The most common cause of delayed puberty is constitutional delay. Unfortunately this is a diagnosis of exclusion that requires ruling out elevated LH/FSH and other causes of hypogonadism.
 
REFERENCES
  1. Lee P.A. ;  Disorders of Puberty ;  In (F. Lifshitz, Ed.) Pediatric Endocrinology: A Clinical Guide, 2nd Ed. Marcel Dekker Inc., NY, 1990.

  2. Lee P.A. ;  Normal ages of pubertal events among American males and females. ;  J. Adolesc. Health Care 1:26-29, 1980.

  3. Tanner J.M. ;  Growth at Adolescence. ;  11th Ed. Blackwell Scientific, Oxford, 1962.

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