Combined pituitary hormone deficiency: current and future status

Over the last two decades, the understanding of the mechanisms involved in pituitary ontogenesis has largely increased. Since the first description of POU1F1 human mutations responsible for a well-defined phenotype without extra-pituitary malformation, several other genetic defects of transcription...

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Vydáno v:	Journal of endocrinological investigation Ročník 38; číslo 1; s. 1 - 12
Hlavní autoři:	Castinetti, F., Reynaud, R., Quentien, M.-H., Jullien, N., Marquant, E., Rochette, C., Herman, J.-P., Saveanu, A., Barlier, A., Enjalbert, A., Brue, T.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Cham Springer International Publishing 01.01.2015
Témata:	Animals Endocrinology Forecasting Humans Hypopituitarism - diagnosis Hypopituitarism - etiology Hypopituitarism - genetics Medicine Medicine & Public Health Metabolic Diseases Mutation - genetics Phenotype Pituitary Gland - growth & development Pituitary Gland - secretion Pituitary Hormones - genetics Pituitary Hormones - secretion Review Corticotroph deficiency Pituitary development Gonadotroph deficiency Somatotroph deficiency Hypothalamus Transcription factor Thyrotroph deficiency
ISSN:	1720-8386, 1720-8386
On-line přístup:	Získat plný text
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Popis
Shrnutí:	Over the last two decades, the understanding of the mechanisms involved in pituitary ontogenesis has largely increased. Since the first description of POU1F1 human mutations responsible for a well-defined phenotype without extra-pituitary malformation, several other genetic defects of transcription factors have been reported with variable degrees of phenotype–genotype correlations. However, to date, despite the identification of an increased number of genetic causes of isolated or multiple pituitary deficiencies, the etiology of most (80–90 %) congenital cases of hypopituitarism remains unsolved. Identifying new etiologies is of importance as a post-natal diagnosis to better diagnose and treat the patients (delayed pituitary deficiencies, differential diagnosis of a pituitary mass on MRI, etc.), and as a prenatal diagnosis to decrease the risk of early death (undiagnosed corticotroph deficiency for instance). The aim of this review is to summarize the main etiologies and phenotypes of combined pituitary hormone deficiencies, associated or not with extra-pituitary anomalies, and to suggest how the identification of such etiologies could be improved in the near future.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 ObjectType-Review-3 content type line 23
ISSN:	1720-8386 1720-8386
DOI:	10.1007/s40618-014-0141-2