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Delayed puberty

Last reviewed: 24 Mar 2025
Last updated: 21 Feb 2025

Summary

Definition

Anamnesis y examen

Principales factores de diagnóstico

  • boys: testes <4 mL
  • girls: absent breast development
  • absent pubic/axillary hair
  • absence of menarche >3 years from breast budding
  • absent growth spurt
  • anosmia
Todos los datos

Otros factores de diagnóstico

  • short stature
  • dysmorphic features
Todos los datos

Factores de riesgo

  • 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)
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

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

Pruebas diagnósticas que deben considerarse

  • 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
Todos los datos

Pruebas emergentes

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

Algoritmo de tratamiento

Agudo

constitutional delay

organic (permanent) cause: boys

organic (permanent) cause: girls

chronic illness or malnutrition

En curso

persistent hypogonadism postpuberty

Colaboradores

Autores

Talat Mushtaq, ​BSc, MBCHB, MRCPCH, MD

Paediatric Endocrinology Consultant

Leeds Teaching Hospitals NHS Trust

Leeds

UK

Divulgaciones

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

Divulgaciones

SH has received speaking honoraria from Sandoz and Novo Nordisk.

Agradecimientos

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

Divulgaciones

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

Revisores por pares

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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