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Síndrome de Turner

Última revisión: 5 Oct 2024
Última actualización: 18 Sep 2023

Resumen

Definición

Anamnesis y examen

Principales factores de diagnóstico

  • crecimiento deficiente
  • estatura baja
  • desarrollo puberal retrasado/ausente
  • amenorrea primaria
  • defectos cardíacos congénitos
  • alteraciones esqueléticas
  • cuello alado
  • linfedema periférico
Todos los datos

Otros factores de diagnóstico

  • rasgos dismórficos
  • amenorrea secundaria
  • múltiples nevos melanocíticos
  • otitis media recurrente/grave
  • chasquido o soplo sistólico eyectivo
  • habilidades sociales deficientes
  • alteraciones oculares
  • hipertensión en extremidades superiores
  • uñas hiperconvexas o distróficas
Todos los datos

Factores de riesgo

  • no existen factores de riesgo conocidos
Todos los datos

Pruebas diagnósticas

Primeras pruebas diagnósticas para solicitar

  • cariotipo
Todos los datos

Pruebas diagnósticas que deben considerarse

  • pruebas audiológicas
  • examen oftalmológico
  • edad ósea
  • ecocardiograma
  • imagen por resonancia magnética cardíaca
  • hormona foliculoestimulante sérica y hormona antimülleriana
  • examen del esqueleto
  • ultrasonido pélvico
  • ultrasonido renal
  • pruebas de función tiroidea
  • anticuerpos antitiroideos
  • LFT/gamma glutamil transferasa/fosfatasa alcalina
  • glucosa en ayunas y HbA1c
  • lípidos séricos
  • nivel de IgA e IgA transglutaminasa tisular
  • niveles de la vitamina D
Todos los datos

Algoritmo de tratamiento

Agudo

todas las pacientes: al momento del diagnóstico

En curso

todas las pacientes: tras el establecimiento de sangrado cíclico

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.

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  • Guías de práctica clínica

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