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Delayed puberty.

Gary Butler1, Preetha Purushothaman2,3

  • 1Department of Pediatric and Adolescent Endocrinology, University College London Hospital, London, UK - gary.butler@ucl.ac.uk.

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Summary

Delayed puberty, affecting normal development, requires medical evaluation to distinguish causes like hypogonadotropic hypogonadism from constitutional delay. Treatment involves hormone therapy and supportive counseling for adolescents.

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Area of Science:

  • Pediatrics
  • Endocrinology
  • Genetics

Background:

  • Puberty onset and completion have defined age ranges, with delays impacting adolescent development.
  • Delayed puberty necessitates excluding medical, psychological, and gonadal etiologies.

Purpose of the Study:

  • To outline the diagnostic and management strategies for delayed puberty in adolescents.
  • To differentiate between central (hypogonadotropic hypogonadism) and gonadal (hypergonadotropic hypogonadism) causes.
  • To highlight the role of genetics in distinguishing conditions like constitutional delay of growth and puberty (CDGP).

Main Methods:

  • Detailed patient history and clinical examination to identify pubertal signs.
  • Targeted investigations to rule out medical causes and determine the type of hypogonadism.
  • Genetic profiling to differentiate CDGP from congenital hypogonadotropic hypogonadism.

Main Results:

  • Delayed puberty can stem from central gonadotropin deficiency or gonadal disorders.
  • Constitutional delay of growth and puberty (CDGP) is a diagnosis of exclusion, more common in boys.
  • Distinct genetic profiles exist for CDGP and congenital hypogonadotropic hypogonadism.

Conclusions:

  • Accurate diagnosis of delayed puberty requires a comprehensive approach, including genetic analysis.
  • Treatment involves sex steroid replacement therapy, mimicking natural pubertal progression.
  • Psychological support and counseling are crucial components in managing adolescents with delayed puberty.