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Delayed puberty

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

Summary

Definition

History and exam

Key diagnostic 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
  • radiation therapy
  • histiocytosis
  • sickle cell disease
  • iron overload (associated with transfusion)
Full details

Diagnostic tests

1st tests to order

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

Tests to consider

  • luteinizing hormone-releasing hormone stimulation test (LHRH)
  • inhibin B
  • anti-Mullerian hormone (AMH)
  • human chorionic gonadotropin (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 gonadotropin 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 postpuberty

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.

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