Disorders of Sex Development (DSD) include a wide range of anomalies among the chromosomal, gonadal, and phenotypic (genital) characteristics that define sexual differentiation. At present, a definition as Different Sexual Development (DSD) is currently preferred. They originate in the pre-natal stage, are classified according to the sex chromosomes present in the karyotype. The known genetic causes are numerous and heterogeneous, although, in some cases, they may be secondary to maternal factors and/or exposure to endocrine-disrupting chemicals (EDCs). The diagnosis and treatment of DSD always requires multidisciplinary medical and psychosocial care. An aetiological diagnosis needs the interaction of clinical, biochemical (hormonal), genetic, imaging and, sometimes, surgical examinations. The treatment should deal with sex assignment, the possible need for hormone replacement therapy (adrenal if adrenal function is impaired, and with sex steroids from pubertal age if gonadal function is impaired), as well as the need for surgery on genital structures (currently deferred when possible) and/or on gonads (depending on the risk of malignancy), the need of psychosocial support and, finally, an adequate organisation of the transition to adult medical specialties. Patient Support Groups have a fundamental role in the support of families, as well as the interaction with professional and social media. The use of Registries and the collaboration between professionals in Working Groups of national and international medical societies are crucial for improving the diagnostic and therapeutic tools required for the care of patients with DSD.

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Resumen El manejo de la diabetes tipo 1 en la infancia y adolescencia ha evolucionado en los últimos años, como consecuencia de la intensificación del tratamiento insulínico y la aceptación de nuevos objetivos en el tratamiento. La nutrición y el ejercicio se consideran elementos básicos para el control glucémico, y el autocontrol es la clave para una terapia exitosa. Para conseguir un manejo adecuado de la enfermedad es esencial una educación diabetológica apropiada, así como una motivación continua. El pediatra de Atención Primaria puede ayudar a los pacientes y sus familias en estos aspectos, y jugar un papel esencial en la detección precoz de la enfermedad. Asimismo, el personal de Atención Primaria debe estar preparado para hacer frente a situaciones comunes en la vida del pacientes con diabetes como las hipoglucemias y las infecciones, y prestar atención a los aspectos psicológicos en el cuidado de los pacientes y sus familias.

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