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
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
Factores de riesgo
- no existen factores de riesgo conocidos
Pruebas diagnósticas
Primeras pruebas diagnósticas para solicitar
- cariotipo
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
Algoritmo de tratamiento
todas las pacientes: al momento del diagnóstico
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.
Diferenciales
- Retraso constitucional del crecimiento y el desarrollo
- Síndrome de Noonan
- Disgenesia gonadal 46,XX
Más DiferencialesGuías 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
Inicie sesión o suscríbase para acceder a todo el BMJ Best Practice
El uso de este contenido está sujeto a nuestra cláusula de exención de responsabilidad