When viewing this topic in a different language, you may notice some differences in the way the content is structured, but it still reflects the latest evidence-based guidance.

Last reviewed: 21 Nov 2024
Last updated: 23 May 2023

Summary

Definition

History and exam

Key diagnostic factors

  • presence of risk factors
  • boys: testes <4 mL
  • girls: absent breast development
  • absent pubic/axillary hair
  • absence of menarche >3 years from breast budding
  • absent growth spurt
  • anosmia
Full details

Other diagnostic factors

  • short stature
  • dysmorphic features
Full details

Risk factors

  • family history of delayed puberty
  • congenital pituitary structural abnormalities
  • gene mutations
  • chromosomal disorders
  • syndromic diagnosis
  • restrictive eating
  • 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)
Full details

Diagnostic investigations

1st investigations to order

  • Tanner staging
  • measurement of testicular size
  • non-dominant wrist x-ray
  • basal follicle-stimulating hormone (FSH) and luteinising hormone (LH)
Full details

Investigations to consider

  • luteinising hormone-releasing hormone stimulation test (LHRH)
  • inhibin B
  • anti-Mullerian hormone (AMH)
  • human chorionic gonadotrophin (hCG)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
Full details

Emerging tests

  • overnight gonadotrophin profile
  • genetic sequencing
  • measurement of LH following stimulation with kisspeptin

Treatment algorithm

ACUTE

constitutional delay

organic (permanent) cause: boys

organic (permanent) cause: girls

chronic illness or malnutrition

ONGOING

persistent hypogonadism post-puberty

Contributors

Authors

​Talat Mushtaq, ​BSc, MBCHB, MRCPCH, MD

Paediatric Endocrinology Consultant

Leeds Teaching Hospitals NHS Trust

Leeds

UK

Disclosures

TM has received support from Novo Nordisk and Pfizer to attend overseas conferences. He has also received honoraria from Kyowa Kirin for lectures and educational events.

Sasha Howard, MBBS, MRCPCH, MSc, PhD

Senior Lecturer and Honorary Consultant in Paediatric Endocrinology

Queen Mary University of London

Barts Health NHS Trust

London

UK

Disclosures

SH has received speaking honoraria from Sandoz and Novo Nordisk.

Acknowledgements

Dr Talat Mushtaq and Dr Sasha Howard would like to gratefully acknowledge Dr Ameeta Mehta and Professor Peter Hindmarsh, previous contributors to this topic.

Disclosures

AM and PH are authors of several references cited in this topic.

Peer reviewers

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.

Sara DiVall , MD

Associate Professor of Pediatrics

University of Washington

Seattle

WA

Disclosures

SD declares that she has no competing interests.

  • Delayed puberty images
  • Differentials

    • Premature ovarian failure
    • Premature testicular failure
    • Hypogonadotropic Hypogonadism
    More Differentials
  • Guidelines

    • Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency
    • Hormone supplementation for pubertal induction in girls
    More Guidelines
  • Patient information

    Osteoporosis

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

Use of this content is subject to our disclaimer