nighthawk Posted July 5, 2021 Report Share Posted July 5, 2021 From the abstract (appearing in JCEM Feb 2021): PATIENT We present the case of a 10-year-old child who presented with CS at an early age due to bilateral adrenocortical hyperplasia (BAH). The patient was placed on low-dose ketoconazole (KZL), which controlled hypercortisolemia and CS-related signs. Discontinuation of KZL for even 6 weeks led to recurrent CS. CONCLUSIONS We present a pediatric patient with CS due to BAH and a germline defect in KCNJ5. Molecular investigations of this KCNJ5 variant failed to show a definite cause of her CS. However, this KCNJ5 variant differed in its function from KCNJ5 defects leading to PA. We speculate that GIRK4 (Kir3.4) may play a role in early human adrenocortical development and zonation and participate in the pathogenesis of pediatric BAH. Official: Cushing Syndrome in a Pediatric Patient With a KCNJ5 Variant and Successful Treatment With Low-dose Ketoconazole Pre-print (pdf): https://www.researchgate.net/publication/349635365_Cushing_Syndrome_in_a_Pediatric_Patient_With_a_KCNJ5_Variant_and_Successful_Treatment_With_Low-dose_Ketoconazole 1 Quote Link to comment Share on other sites More sharing options...
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