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Last reviewed: 8 Dec 2025
Last updated: 21 Feb 2025

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

Algoritmo de tratamento

AGUDA

constitutional delay

organic (permanent) cause: boys

organic (permanent) cause: girls

chronic illness or malnutrition

CONTÍNUA

persistent hypogonadism post-puberty

Colaboradores

Autores

​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

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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
  • Diagnósticos diferenciais

    • Premature ovarian failure
    • Premature testicular failure
    • Hypogonadotropic Hypogonadism
    Mais Diagnósticos diferenciais
  • Diretrizes

    • ACR-ACOG-AIUM-SPR-SRU practice parameter for the performance of ultrasound of the female pelvis
    • Pubertal induction and transition to adult sex hormone replacement in patients with congenital pituitary or gonadal reproductive hormone deficiency
    Mais Diretrizes
  • Folhetos informativos para os pacientes

    Osteoporosis

    Mais Folhetos informativos para os pacientes
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