Abstract
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.
Highlights
Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with corticotrophin (ACTH)independent Cushing’s syndrome (CS) and is characterized by small to normal-sized adrenal glands containing multiple small cortical pigmented nodules [1,2]
PPNAD may occur in an isolated form or be associated with the multiple neoplasia syndrome, a complex of spotty skin pigmentation, myxomas, and endocrine overactivity, or Carney complex, in which Cushing’s syndrome is the most common endocrine manifestation [3]
PPNAD forms part of a wider clinical spectrum of an autosomal dominant multiple endocrine neoplasia syndrome known as Carney complex characterised by complex of myxomas, spotty pigmentation and endocrine overactivity [9]
Summary
Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with corticotrophin (ACTH)independent Cushing’s syndrome (CS) and is characterized by small to normal-sized adrenal glands containing multiple small cortical pigmented nodules [1,2]. PPNAD may occur in an isolated form or be associated with the multiple neoplasia syndrome, a complex of spotty skin pigmentation, myxomas, and endocrine overactivity, or Carney complex, in which Cushing’s syndrome is the most common endocrine manifestation [3]. Familial cases of isolated PPNAD have been reported, most commonly in females [4]. We report a case of familial Cushing’s syndrome in male siblings due to PPNAD without associated Carney complex
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
