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Aparente clitoromegalia en un recién nacido: un caso de hiperplasia suprarrenal congénita

Mariam Svanadze¹, Tinatin Gagua², Tamar Svanadze¹

¹Obstetrics and Gynaecology, Gagua Clinic, Tbilisi, GEO.

|September 5, 2025

Resumen

Este informe de caso detalla el diagnóstico rápido de hiperplasia suprarrenal congénita (CAH) en una hembra recién nacida que presentaba clitoromegalia. La identificación temprana y el tratamiento de este trastorno del desarrollo sexual (DSD) son cruciales para los bebés afectados.

Área de la Ciencia:

Endocrinología pediátrica
Medicina de la reproducción
La genética médica

Sus antecedentes:

La hiperplasia suprarrenal congénita (HCA) es un grupo de trastornos genéticos que afectan a las glándulas suprarrenales.
Los trastornos del desarrollo sexual (DSD) abarcan una serie de afecciones en las que el desarrollo típico del sexo cromosómico, gonadal o anatómico es atípico.
La clitoromegalia en un recién nacido hembra requiere una investigación exhaustiva para descartar anomalías endocrinas o genéticas subyacentes.

Objetivo del estudio:

Para describir el proceso de diagnóstico de una mujer recién nacida con clitoromegalia aparente.
Para resaltar la identificación exitosa y el tratamiento inicial de la hiperplasia suprarrenal congénita (CAH).
Hacer hincapié en la importancia de una evaluación rápida de los trastornos del desarrollo sexual (DSD).

Principales métodos:

Examen clínico con medición y clasificación precisas de la clitorregia.
Trabajo de diagnóstico inicial que incluye ultrasonidos abdominales y pélvicos.
Las investigaciones de laboratorio se centran en el eje pituitario-adrenal, a pesar del cariotipo retrasado.

Principales resultados:

El paciente fue diagnosticado con un 46 (XX) trastorno del desarrollo sexual (DSD), específicamente hiperplasia suprarrenal congénita (CAH).
A pesar del alto costo del cariotipo, el proceso de diagnóstico no se vio obstaculizado.
La remisión inmediata a la endocrinología pediátrica aseguró el manejo especializado.

Conclusiones:

El reconocimiento temprano y la evaluación diagnóstica integral son vitales para los recién nacidos que presentan genitales ambiguos.
La hiperplasia suprarrenal congénita (HCA) debe considerarse en el diagnóstico diferencial de la clitorregia neonatal.
El manejo multidisciplinario que involucra a la endocrinología pediátrica es esencial para obtener resultados óptimos en los casos de DSD.

Palabras clave:

Mejora del clítoris Hiperplasia suprarrenal congénita Anomalía congénita Trastorno del desarrollo sexual (DSD)Endocrinología Ginecología recién nacido pediatría

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