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Delayed puberty

Last reviewed: 10 Dec 2025
Last updated: 21 Feb 2025

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

Declarações

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

Declarações

SH has received speaking honoraria from Sandoz and Novo Nordisk.

Agradecimentos

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

Declarações

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

Revisores

Nicola Bridges, DM, MRCP, FRCPCH

Consultant Paediatric Endocrinologist

Chelsea and Westminster Hospital

Honorary Senior Lecturer

Imperial College School of Medicine

London

UK

Declarações

NB declares that she has no competing interests.

Sara DiVall , MD

Associate Professor of Pediatrics

University of Washington

Seattle

WA

Declarações

SD declares that she has no competing interests.

Créditos aos pareceristas

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Referências

Nossas equipes internas de editoria e de evidências trabalham em conjunto com colaboradores internacionais especializados e pares revisores para garantir que forneçamos acesso às informações o mais clinicamente relevantes possível.

Principais artigos

Palmert MR, Dunkel L. Clinical practice. Delayed puberty. N Engl J Med. 2012 Feb 2;366(5):443-53. Resumo

Howard SR, Dunkel L. The genetic basis of delayed puberty. Neuroendocrinology. 2018;106(3):283-91.Texto completo  Resumo

Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Arch Dis Child. 1969 Jun;44(235):291-303.Texto completo  Resumo

Marshall WA, Tanner JM. Variations in the pattern of pubertal changes in boys. Arch Dis Child. 1970 Feb;45(239):13-23.Texto completo  Resumo

Artigos de referência

Uma lista completa das fontes referenciadas neste tópico está disponível para os usuários com acesso total ao BMJ Best Practice.
  • Delayed puberty images
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    • Premature testicular failure
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    • Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency
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