{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T19:07:13Z","timestamp":1788030433106,"version":"build-2784847793"},"reference-count":16,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T00:00:00Z","timestamp":1741564800000},"content-version":"vor","delay-in-days":28,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,2,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Primary pigmented nodular adrenocortical disease (PPNAD) is a rare but important cause of adrenocorticotropic hormone (ACTH)-independent Cushing syndrome (CS). It usually presents as cyclical CS in young adults. Childhood onset of PPNAD is exceedingly rare. About 90% of cases of PPNAD are associated with Carney complex (CNC). Both PPNAD and CNC are linked to diverse pathogenic variants of the PRKAR1A gene, which encodes the regulatory subunit type 1 alpha of protein kinase A (PKA). Pathogenic variants of PRKACA gene, which encodes the catalytic subunit alpha of PKA, are extremely rare in PPNAD. We report a case of a female child, aged 8 years and 3 months, who presented with features suggestive of CS, including obesity, short stature, hypertension, moon facies, acne, and facial plethora but without classical striae or signs of CNC. Hormonal evaluation confirmed ACTH-independent CS. However, abdominal imaging revealed normal adrenal morphology. Genetic analysis identified a duplication of the PRKACA gene on chromosome 19p, which is linked to PPNAD. The patient underwent bilateral laparoscopic adrenalectomy, and histopathological study confirmed the PPNAD diagnosis. Postoperative follow-up showed resolution of cushingoid features and hypertension. To our knowledge, this is the first reported case of a female child with PRKACA duplication presenting as CS due to PPNAD.<\/jats:p>","DOI":"10.1210\/jcemcr\/luaf035","type":"journal-article","created":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T07:40:07Z","timestamp":1741592407000},"source":"Crossref","is-referenced-by-count":1,"title":["A Rare Case of <i>PRKACA<\/i> Duplication\u2013Associated Childhood-Onset Primary Pigmented Nodular Adrenocortical Disease"],"prefix":"10.1210","volume":"3","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8339-6770","authenticated-orcid":false,"given":"Padala","family":"Ravi Kumar","sequence":"first","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College and Hospital , Berhampur, Odisha 760004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bandana","family":"Dash","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College and Hospital , Berhampur, Odisha 760004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deepak Kumar","family":"Dash","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College and Hospital , Berhampur, Odisha 760004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debasish","family":"Patro","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College and Hospital , Berhampur, Odisha 760004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jatin Kumar","family":"Majhi","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College and Hospital , Berhampur, Odisha 760004 ,","place":["India"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhabani Sankar","family":"Dhal","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, MKCG Medical College and 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