Long-term follow-up of a pseudohypoparathyroidism type 1a patient with missense mutation (pro115ser) in exon 5

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dc.contributor.authorErdeve S.S.
dc.contributor.authorBerberoğlu M.
dc.contributor.authorŞiklar Z.
dc.contributor.authorEvliyaoğlu O.
dc.contributor.authorHiort O.
dc.contributor.authorÖcal G.
dc.date.accessioned2020-06-25T15:14:32Z
dc.date.available2020-06-25T15:14:32Z
dc.date.issued2010
dc.departmentKırıkkale Üniversitesi
dc.description.abstractPseudohypoparathyroidism (PHP) refers to end-organ resistance that primarily impairs the renal actions of parathyroid hormone (PTH). The patients with PHP type Ia (PHP-Ia), one of the 4 types of PHP, show resistance to other peptide hormones as well as clinical features of Albright hereditary osteodystrophy (AHO), a constellation of short stature, obesity, brachydactyly, ectopic ossifications, and/or mental retardation. Here we report clinical follow-up for a long-term period in a PHP-Ia case who had a missense mutation leading to the substitution of proline by serine (Prol115Ser) in exon 5 which has been reported previously in only two patients. An 11-year-old boy applied for hand spasm to our hospital. On physical examination, he had short stature, round-shaped face and brachydactly. Laboratory evaluation revealed PTH and TSH resistance. Molecular genetic analysis of the GNAS gene revealed a P115S substitution. The patient was followed up for 13 years. Normocalcaemia was achieved with reduced doses of calcitriol (0.25 ?g/day) and calcium supplements (40 mg/kg/day). Daily requirement for levothyroxine supplementation was still high (2.3 ?g/kg) to achieve euthyroidism. His pubertal development was Tanner stage V and he has no gonadotropin resistance. To our knowledge, this is the first report concerning long-term follow-up of this rare mutation. We believe that despite the genetic heterogeneity of AHO, phenotype/genotype correlations of this kind of rare mutations may help to understand progress of the disease. © Journal of Clinical Research in Pediatric Endocrinology.en_US
dc.identifier.doi10.4274/jcrpe.v2i2.85
dc.identifier.endpage88en_US
dc.identifier.issn13085727
dc.identifier.issue2en_US
dc.identifier.pmid21274345
dc.identifier.scopus2-s2.0-77954725882
dc.identifier.scopusqualityQ2
dc.identifier.startpage85en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.v2i2.85
dc.identifier.urihttps://hdl.handle.net/20.500.12587/2135
dc.identifier.volume2en_US
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.relation.ispartofJCRPE Journal of Clinical Research in Pediatric Endocrinology
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectAlbright's hereditary osteodystrophyen_US
dc.subjectMutationen_US
dc.subjectPseudohypoparathyroidism type laen_US
dc.titleLong-term follow-up of a pseudohypoparathyroidism type 1a patient with missense mutation (pro115ser) in exon 5en_US
dc.typeArticle

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