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Primary pigmented nodular adrenocortical disease presenting with a unilateral adrenocortical nodule treated with bilateral laparoscopic adrenalectomy: a case report
George N Zografos, Theodora Pappa, Spiros Avlonitis, Athina Markou, Dimosthenis T Chrysikos, Gregory Kaltsas, Chrysanthi Aggeli, George Piaditis
Journal of Medical Case Reports , 2010, DOI: 10.1186/1752-1947-4-230
Abstract: A 27-year-old Caucasian woman was admitted to our Department with adrenocorticotropic hormone-independent Cushing's syndrome. Its cause was initially considered a left adrenocortical adenoma based on computer tomography imaging. The patient underwent left laparoscopic adrenalectomy and histological examination revealed pigmented micronodular adrenal hyperplasia. Evaluation for the presence of Carney complex was negative. Six months later recurrence of hypercortisolism was documented and a right laparoscopic adrenalectomy was performed further establishing the diagnosis of primary pigmented nodular adrenocortical disease. After a nine-year follow-up there is no evidence of residual disease.Even though primary pigmented nodular adrenocortical disease is a rare cause of Cushing's syndrome, it should be included in the differential diagnosis of adrenocorticotropic hormone-independent Cushing's syndrome, especially because adrenal imaging can be misleading mimicking other adrenocortical diseases. Bilateral laparoscopic adrenalectomy is the preferred treatment in these subjects.Primary pigmented nodular adrenocortical disease (PPNAD) and adrenocorticotropic hormone (ACTH)-independent macronodular adrenal hyperplasia (AIMAH) account for approximately 10% of ACTH-independent Cushing's syndrome (CS) [1-3].PPNAD is characterized by pigmented adrenocortical nodules ranging in size from sub-microscopic to 10 mm in diameter. The cortical nodules are unencapsulated and appear black and brown containing large, globular cells with pigment-laden, eosinophilic cytoplasm, whereas the inter-nodular cortex is usually atrophic [4-6].Half of PPNAD patients appear to be sporadic cases and the other half are familial, mostly associated with Carney complex (CNC) [4,7,8].PPNAD may manifest with typical signs of CS or present with sub-clinical or cyclic CS [4,8]. The treatment of choice in CS due to PPNAD is bilateral adrenalectomy.A 27-year-old Caucasian woman was referred to our Surgery Depa
Clinical and molecular genetics of primary pigmented nodular adrenocortical disease
Sandrini, Fabiano;Stratakis, Constantine;
Arquivos Brasileiros de Endocrinologia & Metabologia , 2004, DOI: 10.1590/S0004-27302004000500007
Abstract: carney complex (cnc) is a multiple endocrine neoplasia (men) syndrome associated with other, non-endocrine manifestations such as lentigines, cardiac myxomas and schwannomas. primary pigmented nodular adrenocortical disease (ppnad), leading to corticotrophin-independent cushing's syndrome is the most frequent endocrine lesion in cnc. the complex has been mapped to 2p16 and 17q22-24, although additional heterogeneity may exist. the gene coding for the protein kinase a (pka) type i-a regulatory subunit (ria), prkar1a, had been mapped to 17q. cloning of the prkar1a genomic structure and its sequencing showed mutations in cnc-, cnc with ppnad- and sporadic ppnad-patients. in cnc tumors, pka activity showed increased stimulation by camp, whereas pka activity ratio was decreased, and in cnc tumors, there is loh of the normal allele, suggesting that normal prkar1a may be a tumor suppressor in these tissues. cnc is the first human disease caused by mutations of one of the subunits of the pka enzyme, a critical component of the camp signaling system and a potential participant in many other signaling pathways.
Familial primary pigmented nodular adrenocortical disease without Carney complex (CNC): A case report and review of literature  [PDF]
Vaibhav Pandey, Vivek Srivastava, Anand kumar, Mumtaz Ansari, S. K. Singh
Case Reports in Clinical Medicine (CRCM) , 2013, DOI: 10.4236/crcm.2013.28119
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.
Primary pigmented nodular adrenocortical disease associated with Carney complex: case report and literature review
Gon?alves, Fabrícia Torres;Feibelmann, Taciana Carla Maia;Mendes, Cínthia Monteiro;Fernandes, Maria Luiza Mendon?a Pereira;Miranda, Geraldo Henrique Gouvêa de;Gouvêa, Agostinho Pinto;Jorge, Paulo Tannús;
Sao Paulo Medical Journal , 2006, DOI: 10.1590/S1516-31802006000600007
Abstract: context: carney complex (cnc), a familial multiple neoplasm syndrome with dominant autosomal transmission, is characterized by tumors of the heart, skin, endocrine and peripheral nervous system, and also cutaneous lentiginosis. this is a rare syndrome and its main endocrine manifestation, primary pigmented nodular adrenal disease (ppnad), is an uncommon cause of adrenocorticotropic hormone-independent cushing's syndrome. case report: we report the case of a 20-year-old patient with a history of weight gain, hirsutism, acne, secondary amenorrhea and facial lentiginosis. following the diagnosing of cnc and ppnad, the patient underwent laparoscopic bilateral adrenalectomy, and she evolved with decreasing hypercortisolism. screening was also performed for other tumors related to this syndrome. the diagnostic criteria, screening and follow-up for patients and affected family members are discussed.
Absence of PRKAR1A loss of heterozygosity in laser-captured microdissected pigmented nodular adrenocortical tissue from a patient with Carney complex caused by the novel nonsense mutation p.Y21X
Almeida, Madson Q.;Brito, Luciana Pinto;Domenice, Sorahia;Costa, Marcia Helena Soares;Pinto, Emilia Modolo;Osório, Cynthia A. Toledo;Latronico, Ana Claudia;Mendonca, Berenice B.;Fragoso, Maria Candida B. V.;
Arquivos Brasileiros de Endocrinologia & Metabologia , 2008, DOI: 10.1590/S0004-27302008000800009
Abstract: objective: primary pigmented nodular adrenocortical disease (ppnad) is the main endocrine manifestation of carney complex, a multiple neoplasia syndrome caused by prkar1a gene mutations. the presence of prkar1a loss of heterozygosity (loh) in adrenocortical tumorigenesis remains controversial. the aim of the present study is to investigate the presence of prkar1a loh in adrenocortical cells in a patient with carney complex. methods: the loh was investigated using a prkar1a informative intragenic marker by genescan software analysis in dna obtained from laser-captured microdissected cells of several adrenal nodules. patients: a young adult male patient with carney complex and his family were studied. results: a novel heterozygous mutation (p. y21x) was identified at prkar1a in blood dna of the male proband and his relatives. no prkar1a loh was evidenced in the laser-captured microdissected cells from ppnad tissue by different methodologies. conclusion: we identified a new prkar1a nonsense mutation and in addition we did not evidence prkar1a loh in laser-captured nodules cells, suggesting that adrenocortical tumorigenesis in ppnad may occurs apart from the second hit.
Cushing's Syndrome and Fetal Features Resurgence in Adrenal Cortex–Specific Prkar1a Knockout Mice  [PDF]
Isabelle Sahut-Barnola,Cyrille de Joussineau,Pierre Val,Sarah Lambert-Langlais,Christelle Damon,Anne-Marie Lefran?ois-Martinez,Jean-Christophe Pointud,Geoffroy Marceau,Vincent Sapin,Frédérique Tissier,Bruno Ragazzon,Jér?me Bertherat,Lawrence S. Kirschner,Constantine A. Stratakis,Antoine Martinez
PLOS Genetics , 2010, DOI: 10.1371/journal.pgen.1000980
Abstract: Carney complex (CNC) is an inherited neoplasia syndrome with endocrine overactivity. Its most frequent endocrine manifestation is primary pigmented nodular adrenocortical disease (PPNAD), a bilateral adrenocortical hyperplasia causing pituitary-independent Cushing's syndrome. Inactivating mutations in PRKAR1A, a gene encoding the type 1 α-regulatory subunit (R1α) of the cAMP–dependent protein kinase (PKA) have been found in 80% of CNC patients with Cushing's syndrome. To demonstrate the implication of R1α loss in the initiation and development of PPNAD, we generated mice lacking Prkar1a specifically in the adrenal cortex (AdKO). AdKO mice develop pituitary-independent Cushing's syndrome with increased PKA activity. This leads to autonomous steroidogenic genes expression and deregulated adreno-cortical cells differentiation, increased proliferation and resistance to apoptosis. Unexpectedly, R1α loss results in improper maintenance and centrifugal expansion of cortisol-producing fetal adrenocortical cells with concomitant regression of adult cortex. Our data provide the first in vivo evidence that loss of R1α is sufficient to induce autonomous adrenal hyper-activity and bilateral hyperplasia, both observed in human PPNAD. Furthermore, this model demonstrates that deregulated PKA activity favors the emergence of a new cell population potentially arising from the fetal adrenal, giving new insight into the mechanisms leading to PPNAD.
Clinical Characteristics of Endogenous Cushing’s Syndrome at a Medical Center in Southern Taiwan  [PDF]
Shih-Chen Tung,Pei-Wen Wang,Rue-Tsuan Liu,Jung-Fu Chen,Ching-Jung Hsieh,Ming-Chun Kuo,Joseph W. Yang,Wei-Ching Lee,Min-Hsiung Cheng,Tao-Chen Lee
International Journal of Endocrinology , 2013, DOI: 10.1155/2013/685375
Abstract: From January 1987 to December 2011, over a total of 25 years, 84 patients with Cushing’s syndrome (CS) were identified at a medical center in southern Taiwan. We observed a higher incidence of ACTH-independent CS (75%) than ACTH-dependent CS (25%). A higher incidence of adrenocortical adenoma (58.3%) than Cushing’s disease (CD, 21.4%) was also found. The sensitivity of the definitive diagnostic tests for CS, including loss of plasma cortisol circadian rhythm, a baseline 24?h urinary free cortisol (UFC) value >80?μg, and overnight and 2-day low-dose dexamethasone suppression test, was between 94.4% and 100%. For the 2-day high-dose dexamethasone suppression test for the differential diagnosis of CD, the sensitivity of 0800?h plasma cortisol and 24?h UFC was 44.4% and 85.7%, respectively. For the differential diagnosis of adrenal CS, the sensitivities of the 0800?h plasma cortisol and 24?h UFC were 95.5% and 88.9%, respectively. In patients with ACTH-independent CS and ACTH-dependent CS, the baseline plasma ACTH levels were all below 29?pg/mL and above 37?pg/mL, respectively. The postsurgical hospitalization stay following retroperitoneoscopic adrenalectomy was shorter than that observed for transabdominal adrenalectomy (4.3?±?1.6 versus 8.8?±?3.7 days, ). It was easy to develop retroperitoneal and peritoneal seeding of adrenocortical carcinoma via laparoscopic adrenalectomy. 1. Introduction The definitive diagnosis of endogenous Cushing’s syndrome (CS) is a challenge in clinical endocrinology. Biochemical confirmation of CS relies upon the measurement of urinary free cortisol (UFC) over a 24?h period, low dose dexamethasone suppression test (LDDST), and plasma cortisol circadian rhythm assessment [1, 2]. Biochemical tests for the differential diagnosis of CS include baseline plasma adrenocorticotropic hormone (ACTH) measurement, high-dose dexamethasone suppression test (HDDST), and corticotropin-releasing hormone (CRH) stimulation test [3–5]. CS is classified as either ACTH dependent or ACTH independent. In Caucasians, the most common form of the syndrome is ACTH dependent (80–85%). Cushing’s disease (CD, excessive secretion of corticotropin by pituitary corticotroph tumors), accounts for 60–80% of cases in most series [3, 5–7]. Ectopic ACTH CS represents approximately 12–16% of cases [5–7]. ACTH-independent CS (15–20%) results from excessive secretion of cortisol by adrenocortical tumors, classified as either adenoma (10%) or carcinoma (8%), by primary pigmented nodular adrenocortical disease (PPNAD, 1%) or by ACTH-independent bilateral macronodular
Analysis of glucose-dependent insulinotropic peptide receptor (GIPR) and luteinizing hormone receptor (LHCGR) expression in human adrenocortical hyperplasia
Costa, Marcia Helena Soares;Domenice, Sorahia;Latronico, Ana Claudia;Martin, Regina Matsunaga;Nishi, Mirian Yumie;Lucon, Antonio Marmo;Mendonca, Berenice Bilharinho;Fragoso, Maria Candida Barisson Villares;
Arquivos Brasileiros de Endocrinologia & Metabologia , 2009, DOI: 10.1590/S0004-27302009000300005
Abstract: objective: to analyze the aberrant expression of the gipr and lhcgr in different forms of adrenocortical hyperplasia: acth-independent macronodular adrenal hyperplasia (aimah), primary pigmented nodular adrenocortical disease (ppnad) and diffuse adrenal hyperplasia secondary to cushing's disease (dahcd). methods: we quantified gipr and lhcgr expressions using real time pcr in 20 patients with adrenocortical hyperplasia (seven with aimah, five with ppnad, and eight with dahcd). normal adrenals tissues were used as control and the relative expression was compared with β-actin. results: gipr and lhcgr expressions were demonstrated in all tissues studied. median gipr and lhcgr mrna levels were 1.6; 0.4; 0.5 and 1.3; 0.9; 1.0 in adrenocortical tissues from aimah, ppnad and dahcd respectively. there were no differences between gipr and lhcgr expressions in all tissues studied. conclusions: gipr and lhcgr overexpression were not identified in the studied cases, thus suggesting that this molecular mechanism is not involved in adrenocortical hyperplasia in our patients.
Complexo de Carney: relato de um caso e revis?o da literatura
Almeida, Madson Q. de;Villares, Maria C. B. F.;Mendon?a, Berenice B. de;
Arquivos Brasileiros de Endocrinologia & Metabologia , 2004, DOI: 10.1590/S0004-27302004000400016
Abstract: carney complex (cnc) is a familial multiple neoplasia syndrome associated with abnormal skin and mucosal pigmentation, primary pigmented nodular adrenocortical disease (ppnad), cardiac and cutaneous myxomas, gh and prl pituitary adenoma, testicular tumors, thyroid adenoma or carcinoma and ovarian cysts. cnc is inherited as an autosomal dominant trait and has some clinical similarities to mccune-albright syndrome. recently, genes related to stimulation of the camp signaling pathway have been considered candidates for causing cnc. we report a 17-yr-old man with ppnad, lentigines on the face and severe osteoporosis. in this article we aim at describing the clinical aspects and molecular genetics of cnc and also summarizing diagnostic criteria for cnc and recommendations for follow-up.
Pigmented villo nodular synovitis
Radha S,Afroz T,Vidya Sagar JVS
Indian Journal of Orthopaedics , 2006,
Abstract: Background: Pigmented villonodular synovitis is a rare disorder affecting joints. Methods : We reviewed 19 cases of pigmented villonodular synovitis out of 481 arthroscopic synovial biopsies over a period of ten years. A common presenting symptom was locking. Both diffuse and localized forms were diagnosed. Duration of symptoms varied from 5 months to3 years. We report our experience of patients treated by arthroscopic excision for localized villonodular synovitis and arthroscopic synovectomy for diffuse villonodular synovitis followed by intraarticular Yttrium. Results : In diffuse villonodular synovitis arthroscopic total synovectomy was done a using special angular and straight motorized shaver through different portals to reach all corners of the joint. Localized variety was treated by excising the pedicle attached to the synovium. In our series none of the patients with localized villonodular synovitis showed recurrence till date. Three cases of diffuse variety presented with effusion and swelling three to six months after treatment and were managed by arthoscopic synovial shaving. Two cases who showed recurrence after one year were subjected to intraarticular 90Y isotope injection. Conclusion : Arthroscopic synovectomy helps in reducing morbidity. Radiation and intraarticular Injection of 90 Y are alternative modes of treatment.
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