Children with Cushing's syndrome: primary pigmented nodular adrenocortical disease should always be suspected

Children with Cushing's syndrome: primary pigmented nodular adrenocortical disease should always be suspected

Author Goncalves da Silva, Renata Marques Autor UNIFESP Google Scholar
Pinto, Emilia Google Scholar
Goldman, Suzan M. Autor UNIFESP Google Scholar
Andreoni, Cassio Autor UNIFESP Google Scholar
Vieira, Teresa C. Autor UNIFESP Google Scholar
Abucham, Julio Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
Abstract Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare form of bilateral adrenocortical hyperplasia that is inherited in an autosomal dominant manner and leads to ACTH-independent Cushing's syndrome (CS). PPNAD may be isolated or associated with Carney Complex (CNC). for the diagnosis of PPNAD and CNC, in addition to the hormonal and imaging tests, searching for PRKAR1A mutations may be recommended. the aims of the present study are to discuss the clinical and molecular findings of two Brazilian patients with ACTH-independent CS due to PPNAD and to show the diagnostic challenge CS represents in childhood. Description of two patients with CS and the many sequential steps for the diagnosis of PPNAD is provided. Sequencing analysis of all coding exons of PRKAR1A in the blood, frozen adrenal nodules (patients 1 and 2) and testicular tumor (patient 1) is performed. After several clinical and laboratory drawbacks that misled the diagnostic investigation in both patients, the diagnosis of PPNAD was finally established and confirmed through pathology and molecular studies. in patient 1, sequencing of PRKAR1A gene revealed a novel heterozygous 10-bp deletion in exon 3, present in his blood, adrenal gland and testicular tumor. the etiologic diagnosis of endogenous CS in children is a challenge that requires expertise and a multidisciplinary collaboration for its prompt and correct management. Although rare, PPNAD should always be considered among the possible etiologies of CS, due to the high prevalence of this disease in this age group.
Keywords Cushing's syndrome
PPNAD
Carney complex
PRKAR1A mutation
ACTH-independent CS
Language English
Date 2011-03-01
Published in Pituitary. New York: Springer, v. 14, n. 1, p. 61-67, 2011.
ISSN 1386-341X (Sherpa/Romeo, impact factor)
Publisher Springer
Extent 61-67
Origin http://dx.doi.org/10.1007/s11102-010-0260-5
Access rights Closed access
Type Article
Web of Science ID WOS:000287453200009
URI http://repositorio.unifesp.br/handle/11600/33515

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