Key result
Bilateral adrenalectomy successfully resolved clinical features of Cushing's syndrome in two male siblings with rare familial isolated primary pigmented nodular adrenocortical disease, with no Carney complex features developing over 10 years of follow-up.
Case Report (n=2)
Isolated familial PPNAD without Carney complex is a rare cause of Cushing's syndrome that can be successfully treated with bilateral adrenalectomy and has a better prognosis than PPNAD with Carney complex.
Supports bilateral adrenalectomy for Cushing's in isolated familial PPNAD; leaves open validation and prognosis comparisons in larger cohorts.
Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of familial Cushing's syndrome. It is characterized by bilateral adrenocortical hyperplasia with small to normal-sized adrenal glands containing multiple small adrenal cortical pigmented nodules [1,2]. PPNAD may occur in an isolated form or as familial PPNAD. Familial cases of PPNAD are usually associated with Carney complex in which Cushing’s syndrome is the most common endocrine manifestation [3]. Familial cases of PPNAD without associated Carney complex are very rare. Only a few cases of familial isolated PPNAD have been reported in the literature, mostly in females [4]. Isolated familial PPNAD has got a better prognosis than familial PPNAD associated with Carney Complex. This observation has important consequences for clinical management, follow-up and genetic counselling of such patients. Familial cases of PPNAD are rare and mostly present in females with associated Carney complex. We herein report a case of familial Cushing’s syndrome in male siblings due to PPNAD without associated Carney complex.
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Pandey et al. (2013) conducted a case report in Familial primary pigmented nodular adrenocortical disease (PPNAD) without Carney complex (n=2). Bilateral adrenalectomy was evaluated on Resolution of clinical features of Cushing's syndrome. Bilateral adrenalectomy successfully resolved clinical features of Cushing's syndrome in two male siblings with rare familial isolated primary pigmented nodular adrenocortical disease, with no Carney complex features developing over 10 years of follow-up.
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