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Turner syndrome

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  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Evidencia revisada por última vez: 1 May 2026
Tema actualizado por última vez: 03 Jun 2025

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • poor growth
  • short stature
  • delayed/absent pubertal development
  • primary amenorrhea
  • congenital heart defects
  • skeletal abnormalities
  • webbed neck
  • peripheral lymphedema
Todos los datos

Otros factores de diagnóstico

  • dysmorphic features
  • secondary amenorrhea
  • multiple melanocytic nevi
  • recurrent/severe otitis media
  • systolic ejection murmur and/or click
  • poor social skills
  • eye abnormalities
  • upper extremity hypertension
  • dystrophic and/or hyperconvex nails
Todos los datos

Factores de riesgo

  • there are no known risk factors
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • karyotype
Todos los datos

Pruebas diagnósticas que deben considerarse

  • audiology testing
  • ophthalmological examination
  • bone age
  • echocardiogram
  • cardiac MRI
  • serum follicle-stimulating hormone and anti-Müllerian hormone
  • skeletal survey
  • pelvic ultrasound
  • renal ultrasound
  • thyroid function tests
  • antithyroid antibodies
  • LFTs/gamma glutamyl transferase/alkaline phosphatase
  • fasting glucose and HbA1c
  • serum lipids
  • IgA level and tissue transglutaminase IgA
  • vitamin D levels
Todos los datos

Algoritmo de tratamiento

Agudo

all patients: at diagnosis

En curso

all patients: after establishment of cyclical bleeding

Colaboradores

Autores

Patricia Y. Fechner, MD

Medical Director

Differences of Sex Development Program

Medical Director Congenital Adrenal Hyperplasia (CAH) Center of Excellence

Medical Co-Director Turner Syndrome Clinic

Seattle Children’s Hospital

Professor of Pediatrics

University of Washington

Seattle

WA

Divulgaciones

PYF is currently considering research using growth hormone in Turner syndrome sponsored by industry but no contract has been signed. She has been invited to participate in the 2023 updated Guidelines for Turner Syndrome in June 2023. She has also conducted contract research from Neurocrine BioSciences, Pfizer, Spruce Biosciences, and Ascendis Pharma. PYF has stock in Abbott Laboratories and AbbVie. She declares that these activities do not relate to the topic. PYF participated in Meet the Professor for the Endocrine Society 2019 Annual Meeting and is an author of references cited in this topic.

Agradecimientos

Dr Patricia Y. Fechner would like to gratefully acknowledge Dr Carolyn A. Bondy, a previous contributor to this topic.

Divulgaciones

CAB is an author of references cited in this topic.

Revisores por pares

Gerard Conway, MD

Consultant Endocrinologist

University College London Hospitals

London

UK

Divulgaciones

GC declares that he has no competing interests.

Peter Hindmarsh, MD

Professor

Developmental Endocrinology Research Unit

Institute of Child Health

London

UK

Divulgaciones

PH declares that he has no competing interests.

Vaneeta Bamba, MD

Associate Professor of Pediatrics

Children’s Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania

Philadelphia

PA

Divulgaciones

VB declares that in Nov 2020, she was part of a Genetic Short Stature Advisory Board sponsored by NovoNordisk. VB is a member of the Turner Syndrome Society Scientific Advisory Board- this is not compensated. VB has no known upcoming financial interests or relationships.

Agradecimiento de los revisores por pares

Los temas de BMJ Best Practice se actualizan de forma continua de acuerdo con los desarrollos en la evidencia y en las guías. Los revisores por pares listados aquí han revisado el contenido al menos una vez durante la historia del tema.

Divulgaciones

Las afiliaciones y divulgaciones de los revisores por pares se refieren al momento de la revisión.

Referencias

Nuestros equipos internos de evidencia y editoriales colaboran con colaboradores expertos internacionales y revisores pares para garantizar que brindemos acceso a la información más clínicamente relevante posible.

Artículos principales

Gravholt CH, Andersen NH, Conway GS; International Turner Syndrome Consensus Group. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177:G1-G70.Texto completo  Resumen

Bondy CA. Heart disease in Turner syndrome. Minerva Endocrinol. 2007;32:245-261. Resumen

Silberbach M, Roos-Hesselink JW, Andersen NH, et al. Cardiovascular health in Turner syndrome: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2018 Oct;11(10):e000048.Texto completo  Resumen

Canadian Growth Hormone Advisory Committee. Impact of growth hormone supplementation on adult height in Turner syndrome: results of the Canadian randomized controlled trial. J Clin Endocrinol Metab. 2005;90:3360-3366.Texto completo  Resumen

Matura LA, Ho VB, Rosing DR, et al. Aortic dilatation and dissection in Turner syndrome. Circulation. 2007;116:1663-1670.Texto completo  Resumen

Artículos de referencia

Una lista completa de las fuentes a las que se hace referencia en este tema está disponible para los usuarios con acceso a todo BMJ Best Practice.
  • Turner syndrome images

  • Diferenciales

    • Constitutional delay of growth and development
    • Noonan syndrome
    • 46,XX gonadal dysgenesis
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  • Guías de práctica clínica

    • Cardiovascular health in Turner syndrome
    • Clinical practice guidelines for the care of girls and women with Turner syndrome
    Más Guías de práctica clínica
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