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Updated: Jan 18, 2026

Fecal Glucocorticoid Analysis: Non-invasive Adrenal Monitoring in Equids

Fecal Glucocorticoid Analysis: Non-invasive Adrenal Monitoring in Equids

Published on: April 25, 2016

Descubrimiento de la Deficiencia Aislada de Glucocorticoides: Perspectivas Clínicas de 2 Casos

Ayushi Singhal¹, Jayakrishnan C Menon^1,2, Subhash Chandra Yadav¹

¹Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh 226014, India.

JCEM case reports

|January 16, 2026

Resumen

La deficiencia familiar de glucocorticoides (FGD) es un trastorno raro de insuficiencia suprarrenal primaria. Las pruebas genéticas identificaron variantes novedosas en los genes AFF2, MC2R y CYP11A1, lo que amplía las causas genéticas conocidas de la FGD.

Área de la Ciencia:

Endocrinología; Genética; Enfermedades Raras

Sus antecedentes:

La deficiencia familiar de glucocorticoides (FGD) es un trastorno autosómico recesivo raro.; Se caracteriza por la falta de respuesta a la adrenocorticotropina (ACTH) con preservación de la secreción de mineralocorticoides.

Objetivo del estudio:

Describir dos pacientes con FGD.; Identificar los fundamentos genéticos de la FGD en estos pacientes.

Principales métodos:

Presentación clínica e investigaciones de laboratorio, incluidos los niveles hormonales.; Secuenciación del exoma completo (WES) para identificar variantes genéticas.; Exclusión de causas comunes de insuficiencia suprarrenal primaria (PAI).

Principales resultados:

Paciente 1: FGD con retraso global del desarrollo, convulsiones, hipotiroidismo subclínico, cortisol bajo, ACTH alta. El WES reveló una deleción del gen AFF2 y una variante del gen MC2R.; Paciente 2: Deficiencia aislada de glucocorticoides con hiponatremia y convulsiones. El WES identificó variantes heterocigotas compuestas en el gen CYP11A1.; Ambos pacientes respondieron bien a la terapia de reemplazo de glucocorticoides.

Conclusiones:

Se debe sospechar FGD en personas jóvenes con insuficiencia suprarrenal primaria.; Las anomalías genéticas en genes como AFF2, MC2R y CYP11A1 pueden causar FGD.; El diagnóstico temprano y el reemplazo de glucocorticoides son cruciales para el manejo de la FGD.

Palabras clave:

mutación del gen CYP11A1 (enzima de escisión de cadena lateral de citocromo P450)mutación del gen MC2R (receptor de melanocortina 2)resistencia a la adrenocorticotropina insuficiencia suprarrenal familiar deficiencia aislada de glucocorticoides trastornos suprarrenales monogénicos

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