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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Bibliographic Details
Published in:Journal of endocrinological investigation Vol. 38; no. 1; pp. 1 - 12
Main Authors: Castinetti, F., Reynaud, R., Quentien, M.-H., Jullien, N., Marquant, E., Rochette, C., Herman, J.-P., Saveanu, A., Barlier, A., Enjalbert, A., Brue, T.
Format: Journal Article
Language:English
Published: Cham Springer International Publishing 01.01.2015
Subjects:
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
Online Access:Get full text
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Summary: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.
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ISSN:1720-8386
1720-8386
DOI:10.1007/s40618-014-0141-2