Delayed puberty

Last reviewed: 4 Sep 2022
Last updated: 09 Jan 2020

Summary

Definition

History and exam

Key diagnostic 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
  • radiation therapy
  • histiocytosis
  • sickle cell disease
  • iron overload (associated with transfusion)
More risk factors

Diagnostic investigations

1st investigations to order

  • nondominant wrist x-ray
  • basal follicle-stimulating hormone and luteinizing hormone
More 1st investigations to order

Investigations to consider

  • luteinizing hormone-releasing hormone stimulation test
  • human chorionic gonadotropin 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 gonadotropin profile

Treatment algorithm

ACUTE

constitutional delay

organic (permanent) cause: boys

organic (permanent) cause: girls

chronic illness or malnutrition

ONGOING

persistent hypogonadism postpuberty

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
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  • Guidelines

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    • Clinical practice guidelines for the care of girls and women with Turner syndrome
    More Guidelines
  • Patient leaflets

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