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8-Year-Old Makes History with Rare Medical Condition

3/14/2025

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Summary

Story summary

An 8-year-old girl in India has made medical history as the first child diagnosed with primary pigmented nodular adrenocortical disease (PPNAD) linked to a PRKACA gene duplication. After experiencing symptoms of Cushing’s syndrome, she bravely underwent adrenal surgery and is now thriving, with her blood pressure normalized and growth significantly improved.

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Story summary

An 8-year-old girl in India has made medical history as the first child diagnosed with primary pigmented nodular adrenocortical disease (PPNAD) linked to a PRKACA gene duplication. After experiencing symptoms of Cushing’s syndrome, she bravely underwent adrenal surgery and is now thriving, with her blood pressure normalized and growth significantly improved.