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Selected Publication:
SHR Neuro Cancer Cardio Lipid Metab Microb
Urban, C; Weinhäusel, A; Fritsch, P; Sovinz, P; Weinhandl, G; Lackner, H; Moritz, A; Haas, OA.
Primary pigmented nodular adrenocortical disease (PPNAD) and pituitary adenoma in a boy with sporadic Carney complex due to a novel, de novo paternal PRKAR1A mutation (R96X).
J Pediatr Endocrinol Metab. 2007; 20(2): 247-252.
Doi: 10.1515/JPEM.2007.20.2.247
(- Case Report)
Web of Science
PubMed
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- Leading authors Med Uni Graz
- Urban Ernst-Christian
- Co-authors Med Uni Graz
- Fritsch Peter
- Lackner Herwig
- Ritter-Sovinz Petra
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- Abstract:
- We report the sporadic case of a 9 year-old boy with Carney syndrome, who presented with precocious puberty due to the endocrinological effects of primary pigmented nodular adrenocortical disease (PPNAD) and a synchronous pituitary adenoma. The adrenal tumor was removed surgically. Following unsuccessful treatment with bromocriptine the pituitary adenoma was also resected and a residual tumor irradiated. Thirty months after diagnosis the boy is free of symptoms. Mutation screening of the entire coding region of the PRKAR1A gene identified five single nucleotide exchanges, four of which were either heterozygous or homozygous polymorphic variants that were also present in his parents. However, the hitherto unreported disease-relevant mutation R96X in exon 3 had occurred de novo on the paternal allele.
- Find related publications in this database (using NLM MeSH Indexing)
- Adenoma - diagnosis
- Adrenal Cortex Diseases - diagnosis
- Alleles - diagnosis
- Child - diagnosis
- Cyclic AMP-Dependent Protein Kinase RIalpha Subunit - diagnosis
- Cyclic AMP-Dependent Protein Kinases - genetics
- Germ-Line Mutation - genetics
- Humans - genetics
- Male - genetics
- Multiple Endocrine Neoplasia - diagnosis
- Myxoma - diagnosis
- Pigmentation Disorders - diagnosis
- Pituitary Neoplasms - diagnosis
- Polymorphism, Single Nucleotide - genetics
- Soft Tissue Neoplasms - diagnosis
- Syndrome - diagnosis
- Find related publications in this database (Keywords)
- Carney complex
- myxoma
- Cushing's syndrome
- PPNAD
- pituitary adenoma
- skin pigmentation
- PRKAR1A mutation