Delayed puberty

Last reviewed: 21 Apr 2022
Last updated: 09 Jan 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
More key diagnostic factors

Other diagnostic factors

  • short stature
  • dysmorphic features
Other diagnostic factors

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)
More risk factors

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

Treatment algorithm

ACUTE

constitutional delay

organic (permanent) cause: boys

organic (permanent) cause: girls

chronic illness or malnutrition

ONGOING

persistent hypogonadism post-puberty

Contributors

Authors

Ameeta Mehta, MBBS, DCH, DNBE, MSc, MRCP, MD
Ameeta Mehta

Paediatric Endocrinologist

London

UK

Disclosures

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

Peter Hindmarsh, BSc, MD, FRCP, FRCPCH

Professor of Paediatric Endocrinology

University College London

London

UK

Disclosures

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

Peer reviewers

Dianne Deplewski, MD

Assistant Professor of Pediatrics

University of Chicago

Chicago

IL

Disclosures

DD declares that she has no competing interests.

Nicola Bridges, DM MRCP FRCPCH

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.

  • Delayed puberty images
  • Differentials

    • Premature ovarian failure
    • Premature testicular failure
    • Hypothyroidism
    More Differentials
  • Guidelines

    • ACR-ACOG-AIUM-SPR-SRU practice parameter for the performance of ultrasound of the female pelvis
    • Testosterone therapy in infancy and adolescence
    More Guidelines
  • Patient leaflets

    Osteoporosis

    More Patient leaflets
  • padlock-lockedLog in or subscribe to access all of BMJ Best Practice

Use of this content is subject to our disclaimer