Last reviewed: February 2020
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

1st investigations to order

  • non-dominant wrist x-ray
  • basal follicle-stimulating hormone and luteinising hormone
More 1st investigations to order

Investigations to consider

  • luteinising hormone-releasing hormone stimulation test
  • human chorionic gonadotrophin stimulation test
  • MRI brain
  • karyotype
  • ultrasound pelvis and abdomen
  • echocardiogram
  • serum ovarian autoantibodies
  • assessment of olfaction
  • thyroid function tests
  • serum prolactin
  • other pituitary hormone investigations
More investigations to consider

Emerging tests

  • overnight gonadotrophin profile
More emerging tests

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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