Hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa. Presentación de dos casos. Congenital adrenal hyperplasia related to hydroxilase-21 deficiency. A two-case report

Authors

  • José Rafael Hernández Gómez Especialista de I Grado en Endocrinología. Asistente. Hospital Pediátrico "Pepe Portilla". Pinar del Río.
  • Charlia Preciado Delgado Especialista de I Grado en Pediatría. Instructora. Hospital Pediátrico "Pepe Portilla". Pinar del Río.
  • Olga Lidia Pérez Álvarez Especialista de I Grado en Pediatría. Instructora. Hospital Pediátrico "Pepe Portilla". Pinar del Río.
  • Jesús Juan Rodríguez Especialista de II Grado en Pediatría y Genética Clínica. Asistente. Hospital Pediátrico "Pepe Portilla". Pinar del Río.

Abstract

Se presentan dos recién nacidos con Hiperplasia Suprarrenal Congénita por déficit de 21-hidroxilasa clásica, diagnosticadas en el Servicio de Endocrinología del Hospital Pediátrico Provincial Docente "Pepe Portilla" de Pinar del Río, Cuba.Se exponen las diferencias clínicas entre los niños afectados en relación con el sexo,evidenciando dificultades diagnósticas en el varón, que lo expone a complicaciones graves por los desequilibrios hidroelectrolíticos que pueden sufrir con elevado riesgo para su vida. Se presenta información sobre la entidad, revisando la genética de la misma y algunos adelantos en su diagnóstico precoz.

Palabras clave: Hiperplasia SUPRARRENAL congénita-ambigüedad genital-Pérdida salina - diagnóstico NEONATAL.

ABSTRACT

Two infants presenting congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency were diagnosed in Endocrinology Service belonging to "Pepe Portilla" Pediatric Teaching Provincial Hospital, Pinar del Río, Cuba. Clinical differences among the infants affected in relation to sex were showed, making evident diagnostic difficulties in male infant, which increase the risk of severe electrolyte imbalance complications for life. Information about the entity was presented, revising its genetics and some advances for its early diagnosis.

Key words: CONGENITAL ADRENAL HYPERPLASIA, GENITAL AMBIGUITY, SALT DEPLETION, NEONATAL DIAGNOSIS.

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How to Cite

1.
Hernández Gómez JR, Preciado Delgado C, Pérez Álvarez OL, Juan Rodríguez J. Hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa. Presentación de dos casos. Congenital adrenal hyperplasia related to hydroxilase-21 deficiency. A two-case report. Rev Ciencias Médicas [Internet]. 2012 Oct. 9 [cited 2025 Aug. 30];10(3):101-10. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/276

Issue

Vol. 10 No. 3 (2006)

Section

CASE REPORTS

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