Phenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistance

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dc.contributor.authorLaspa, E.en
dc.contributor.authorBastepe, M.en
dc.contributor.authorJuppner, H.en
dc.contributor.authorTsatsoulis, A.en
dc.date.accessioned2015-11-24T18:58:44Z
dc.date.available2015-11-24T18:58:44Z
dc.identifier.issn0021-972X-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19307
dc.rightsDefault Licence-
dc.subjectAdulten
dc.subjectChromosomes, Human, Pair 20en
dc.subjectDrug Resistanceen
dc.subjectGTP-Binding Protein alpha Subunits, Gs/geneticsen
dc.subjectGenetic Linkageen
dc.subjectGreeceen
dc.subjectHumansen
dc.subjectMaleen
dc.subject*Molecular Biologyen
dc.subjectParathyroid Hormone/*metabolismen
dc.subjectPedigreeen
dc.subject*Phenotypeen
dc.subjectPseudohypoparathyroidism/blood/*genetics/physiopathology/urineen
dc.subjectUric Acid/blood/*urineen
dc.subjectVitamin D/*analogs & derivatives/urineen
dc.titlePhenotypic and molecular genetic aspects of pseudohypoparathyroidism type Ib in a Greek kindred: evidence for enhanced uric acid excretion due to parathyroid hormone resistanceen
heal.abstractThe predominant feature of pseudohypoparathyroidism (PHP) is renal resistance to PTH. Pseudohypoparathyroidism type Ia (PHP-Ia) is caused by maternally inherited heterozygous mutations in the GNAS exons encoding the alpha-subunit of the stimulatory G protein (Gsalpha). Besides PTH resistance, PHP-Ia patients have Albright's hereditary osteodystrophy and often display resistance to additional hormones. Patients with PHP-Ib lack features of Albright's hereditary osteodystrophy, and PTH resistance is associated with loss of methylation at the maternal GNAS exon A/B. Most individuals with the autosomal dominant form of PHP-Ib have a 3-kb microdeletion within STX16 approximately 220 kb upstream of exon A/B. Here we report on the clinical and genetic aspects of a Greek PHP-Ib kindred with four affected members and three obligate carriers, who had the 3-kb deletion within STX16. Symptomatic hypocalcemia was present only in the proband, but PTH was elevated in all members who had inherited the 3-kb deletion maternally. In all affected family members, urinary phosphate excretion was normal, but 1,25-dihydroxyvitamin D levels were diminished. These findings confirm previous data regarding patient to patient variation in disease severity for autosomal dominant PHP-Ib. Furthermore, affected individuals displayed hypouricemia with increased fractional excretion of uric acid, suggesting possible involvement of PTH in the renal handling of this metabolite.en
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1210/jc.2004-0249-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/15579741-
heal.identifier.secondaryhttp://jcem.endojournals.org/content/89/12/5942.full.pdf-
heal.journalNameJ Clin Endocrinol Metaben
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2004-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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