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Deficiencia de la proteína StAR en la práctica clínica: una serie de casos de Arabia Saudita
Abeer Alabduljabbar1, Dania Farooq2, Sara Abid2
1Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, kfshrc.edu.sa.
Case reports in endocrinology
|January 8, 2026
Resumen
La deficiencia de la proteína reguladora aguda esteroidogénica (StAR) causa hiperplasia suprarrenal congénita y problemas de desarrollo sexual. Este estudio detalla los hallazgos clínicos y genéticos en siete pacientes saudíes, destacando diversas presentaciones y la necesidad de un diagnóstico temprano.
Área de la Ciencia:
- Endocrinología
- Genética
- Pediatría
Sus antecedentes:
- La deficiencia de la proteína reguladora aguda esteroidogénica (StAR) es un trastorno autosómico recesivo raro que afecta la síntesis de hormonas esteroides.
- Provoca hiperplasia suprarrenal congénita (CAH) y trastornos del desarrollo sexual (DSD).
- Existen datos limitados sobre la deficiencia de StAR para la población de Arabia Saudita.
Objetivo del estudio:
- Describir las características clínicas y genéticas de siete pacientes saudíes diagnosticados con deficiencia de StAR.
- Mejorar la comprensión de la deficiencia de StAR en una población consanguínea.
Principales métodos:
- Se utilizó un enfoque de serie de casos.
- Se recopilaron datos de pacientes tratados en el King Faisal Specialist Hospital and Research Centre, Riyadh.
- Se analizaron datos clínicos y genéticos, incluidas las variantes de STAR.
Principales resultados:
- Siete pacientes saudíes, todos de familias consanguíneas, fueron estudiados.
- Todos presentaron CAH y un fenotipo femenino a pesar del sexo cromosómico (cinco 46,XY; dos 46,XX).
- Los hallazgos comunes incluyeron alteraciones electrolíticas, pérdida de sal y, en dos casos, ictericia colestásica neonatal.
- Se confirmaron variantes patógenas homocigotas de STAR.
Conclusiones:
- La deficiencia de StAR presenta un espectro clínico diverso, que incluye crisis suprarrenal, DSD y colestasis.
- El diagnóstico genético temprano y el asesoramiento son cruciales, especialmente en comunidades consanguíneas.
- Se necesita más investigación para explorar las complejidades clínicas y moleculares de la deficiencia de StAR.
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