Primary pigmented nodular adrenocortical disease

doi:10.16138/j.1673-6087.2023.04.003

Abstract

CLC Number:

R586

GU Yanyun, ZHOU Weiwei, WANG Weiqing, et al. Primary pigmented nodular adrenocortical disease[J]. Journal of Internal Medicine Concepts & Practice, 2023, 18(04): 230-233.

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References 20

[1]	Chute AL, Robinson GC, Donohue WL. Cushing’s syndrome in children[J]. J Pediatr, 1949, 34(1): 20-39. doi: 10.1016/S0022-3476(49)80195-8 URL
[2]	Shenoy BV, Carpenter PC, Carney JA, et al. Bilateral primary pigmented nodular adrenocortical disease[J]. Am J Surg Pathol, 1984, 8(5): 335-344. pmid: 6329005
[3]	Pitsava G, Maria AG, Faucz FR. Disorders of the adrenal cortex: genetic and molecular aspects[J]. Front Endoc-rinol (Lausanne), 2022, 13: 931389.
[4]	Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation[J]. J Clin Endocrinol Metab, 2001, 86(9): 4041-4046. doi: 10.1210/jcem.86.9.7903 URL
[5]	Sahut-Barnola I, de Joussineau C, Val P, et al. Cushing’s syndrome and fetal features resurgence in adrenal cortex-specific PRKAR1A knockout mice[J]. PLoS Genet, 2010, 6(6): e1000980. doi: 10.1371/journal.pgen.1000980 URL
[6]	Bertherat J, Horvath A, Groussin L, et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5’-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes[J]. J Clin Endocrinol Metab, 2009, 94(6): 2085-2091. doi: 10.1210/jc.2008-2333 pmid: 19293268
[7]	Berthon A, Bertherat J. Update of genetic and molecular causes of adrenocortical hyperplasias causing Cushing syndrome[J]. Horm Metab Res, 2020, 52(8): 598-606. doi: 10.1055/a-1061-7349 pmid: 32097969
[8]	Horvath A, Mericq V, Stratakis CA. Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia[J]. N Engl J Med, 2008, 358(7): 750-752. doi: 10.1056/NEJMc0706182 URL
[9]	Horvath A, Boikos S, Giatzakis C, et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia[J]. Nat Genet, 2006, 38(7): 794-800. doi: 10.1038/ng1809 pmid: 16767104
[10]	Leedman PJ, Cohen AK, Matz LR. et al. The complex of myxomas, spotty pigmentation and endocrine overactivity[J]. Clin Endocrinol (Oxf), 1986, 25(5): 527-534. doi: 10.1111/cen.1986.25.issue-5 URL
[11]	Bouys L, Bertherat J. Carney complex: clinical and genetic update 20 years after the identification of the CNC1(PRKAR1A) gene[J]. Eur J Endocrinol, 2021, 184(3): R99-R109. doi: 10.1530/EJE-20-1120 URL
[12]	Faucz FR, Maria AG, Stratakis CA. Molecular tools for diagnosing diseases of the adrenal cortex[J]. Curr Opin Endocrinol Diabetes Obes, 2023, 30(3): 154-160. doi: 10.1097/MED.0000000000000809 pmid: 37067987
[13]	Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type Ⅰ-alpha regulatory subunit in patients with the Carney complex[J]. Nat Genet, 2000, 26(1): 89-92. doi: 10.1038/79238 pmid: 10973256
[14]	顾燕云, 陈瑛, 宋怀东, 等. 一例家族性Camey综合征临床及分子生物学研究[J]. 中华内科杂志, 2004, 43(10): 764-768.
[15]	Forlino A, Vetro A, Garavelli L, et al. PRKACB and Carney complex[J]. N Engl J Med, 2014, 370(11): 1065-1067. doi: 10.1056/NEJMc1309730 URL
[16]	Bourdeau I, Lacroix A, Schürch W, et al. Primary pigmented nodular adrenocortical disease: paradoxical responses of cortisol secretion to dexamethasone occur in vitro and are associated with increased expression of the glucocorticoid receptor[J]. J Clin Endocrinol Metab, 2003, 88(8): 3931-3937. doi: 10.1210/jc.2002-022001 URL
[17]	Vezzosi D, Tenenbaum F, Cazabat L, et al. Hormonal, radiological, NP-59 scintigraphy, and pathological correlations in patients with Cushing’s syndrome due to primary pigmented nodular adrenocortical disease(PPNAD)[J]. J Clin Endocrinol Metab, 2015, 100(11): 4332-4338. doi: 10.1210/jc.2015-2174 URL
[18]	Mete O, Erickson LA, Juhlin CC, et al. Overview of the 2022 WHO classification of adrenal cortical tumors[J]. Endocr Pathol, 2022, 33(1): 155-196. doi: 10.1007/s12022-022-09710-8 pmid: 35288842
[19]	Espiard S, Vantyghem MC, Assié G, et al. Frequency and incidence of Carney complex manifestations[J]. J Clin Endocrinol Metab, 2020, 105(3): dgaa002.
[20]	Lodish M, Stratakis CA. A genetic and molecular update on adrenocortical causes of Cushing syndrome[J]. Nat Rev Endocrinol, 2016, 12(5): 255-262. doi: 10.1038/nrendo.2016.24 pmid: 26965378

项目	诊断标准
主要诊断标准
1	典型分布的斑点样色素沉着（唇、结膜、内外眦、阴道和阴茎黏膜）
2	黏液瘤（皮肤和黏膜）^*
3	心脏黏液瘤^*
4	乳腺黏液瘤病^*或脂肪抑制MRI表现提示该病变
5	PPNAD Liddle试验示尿皮质醇不能被地塞米松所抑制
6	生长激素瘤所致的肢端肥大症
7	年轻患者存在大细胞钙化性Sertoli细胞肿瘤（LCCSCT）^*或超声提示睾丸特征性钙化灶
8	甲状腺癌或青年患者甲状腺超声发现多发性低回声结节
9	沙砾体样色素性神经鞘膜瘤^*
10	蓝痣、多发性上皮样蓝痣^*
11	乳腺导管腺瘤（多发性）^*
12	骨软骨黏液瘤^*
补充诊断标准
1	一级亲缘关系有受累
2	存在PRKAR1A基因失活性突变

Primary pigmented nodular adrenocortical disease

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