Linked Life Data

16789632

Source:http://linkedlifedata.com/resource/pubmed/id/16789632

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2006-6-22
pubmed:abstractText
Heterozygous inactivating mutations in the Gs alpha gene cause Albright's hereditary osteo-dystrophy (AHO). Consistent with the observation that only maternally inherited mutations lead to resistance to hormone action (pseudohypoparathyroidism type Ia [PHP-Ia), recent studies have provided evidence for a predominant maternal origin of Gs alpha transcripts in endocrine organs, such as thyroid, gonad and pituitary. Accordingly, patients with PHP-Ia display variable degrees of resistance to parathyroid hormone (PTH), thyroid stimulating hormone (TSH), gonadotropins and growth hormone (GH) releasing hormone (GHRH). Although the incidence and the clinical and biochemical characteristics of PTH and TSH resistance have been widely investigated and described, the cause and significance of the reproductive dysfunction in AHO is still poorly understood. The clinical finding of alterations of GH secretion in these patients was described for the first time only 2 years ago. The present report briefly reviews the literature focusing on the actual knowledge about these last two subjects.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0334-018X
pubmed:author
pubmed:issnType
Print
pubmed:volume
19 Suppl 2
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
663-70
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Resistance to growth hormone releasing hormone and gonadotropins in Albright's hereditary osteodystrophy.
pubmed:affiliation
Institute of Endocrine Sciences, University of Milan, Ospedale Maggiore IRCCS, Milan, Italy.
pubmed:publicationType
Journal Article, Review