Last reviewed:December 2019
Last updated:January  2020

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • boys: testes <3 mL
  • girls: absent breast development
  • absent pubic/axillary hair
  • absence of menarche
  • absent growth spurt
  • anosmia

Other diagnostic factors

  • short stature
  • dysmorphic features

Risk factors

  • family history of delayed puberty
  • congenital pituitary structural abnormalities
  • gene mutations
  • chromosomal disorders
  • syndromic diagnosis
  • eating disorders
  • chronic systemic illness
  • malnutrition
  • intense exercise
  • congenital testicular abnormalities
  • acquired gonadal abnormalities
  • pituitary surgery
  • adrenal hypoplasia
  • chemotherapy
  • radiotherapy
  • histiocytosis
  • sickle cell disease
  • iron overload (associated with transfusion)

Diagnostic investigations

Treatment algorithm

Contributors

Ameeta Mehta

Paediatric Endocrinologist

London

UK

Disclosures

AM is an author of several articles cited in this topic.

Professor of Paediatric Endocrinology

University College London

London

UK

Disclosures

PH is an author of several articles cited within this topic.

Peer reviewersVIEW ALL

Assistant Professor of Pediatrics

University of Chicago

Chicago

IL

Disclosures

DD declares that she has no competing interests.

Consultant Paediatric Endocrinologist

Chelsea and Westminster Hospital

Honorary Senior Lecturer

Imperial College School of Medicine

London

UK

Disclosures

NB declares that she has no competing interests.

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