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
- hipertensión en extremidades superiores
- uñas hiperconvexas o distróficas
Pruebas diagnósticas
Pruebas diagnósticas que deben considerarse
- pruebas audiológicas
- 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
- PFH/gamma glutamil transferasa
- glucosa en ayunas y HbA1c
- lípidos séricos
- nivel de IgA e IgA transglutaminasa tisular
Algoritmo de tratamiento
Colaboradores
Autores
Patricia Y. Fechner, MD
Medical Director
Differences of Sex Development Program
Medical Co-Director Turner Syndrome Clinic
Seattle Children’s Hospital
Professor of Pediatrics
University of Washington
Seattle
WA
Divulgaciones
PYF is a member of the advisory board and a consultant for Neurocrine BioSciences. She has also conducted contract research from Neurocrine BioSciences, Pfizer, and Ascenda. 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.
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