Cited by 115Pituitary Gland Disorders and TreatmentsGrowth Hormone and Insulin-like Growth FactorsHypothalamic control of reproductive hormones

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Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency

Pfäffle, R., Klammt, J.·2011·Best Practice & Research Clinical Endocrinology & Metabolism

DOI 10.1016/j.beem.2010.10.014

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Abstract

The somatotropic axis is the central postnatal regulator of longitudinal growth. One of its major components--growth hormone--is produced by the anterior lobe of the pituitary, which also expresses and secretes five additional hormones (prolactin, thyroid stimulating hormone, follicle stimulating hormone, luteinizing hormone, adrenocorticotropic hormone). Proper development of the pituitary assures the regulation of critical processes such as metabolic control, puberty and reproduction, stress response and lactation. Ontogeny of the adenohypophysis is orchestrated by inputs from neighbouring tissues, cellular signalling molecules and transcription factors. Perturbation of expression or function of these factors has been implicated in the aetiology of combined pituitary hormone deficiency (CPHD). Mutations within the genes encoding for the transcription factors LHX3, LHX4, PROP1, and POU1F1 (PIT1) that act at different stages of pituitary development result in unique patterns of hormonal deficiencies reflecting their differential expression during organogenesis. In the case of LHX3 and LHX4 the phenotype may include extra-pituitary manifestations due to the function of these genes/proteins outside the pituitary gland. The remarkable variability in the clinical presentation of affected patients indicates the influence of the genetic background, environmental factors and possibly stochastic events. However, in the majority of CPHD cases the aetiology of this heterogeneous disease remains unexplained, which further suggests the involvement of additional genes. Identification of these factors might also help to close the gaps in our understanding of pituitary development, maintenance and function.

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Authors: Pfäffle, R., & Klammt, J.
Affiliations: Leipzig University (DE)
Corresponding author: Pfäffle, R.
ORCID: Pfäffle, R.
Klammt, J.
Venue: Best Practice & Research Clinical Endocrinology & Metabolism
Publisher: Elsevier BV
Published: 2011-02
Volume: 25
Issue: 1
Pages: 43-60
ISSN: 1521-690X (ISSN-L)
DOI: 10.1016/j.beem.2010.10.014
OpenAlex: W2004740577
Cited by: 115
References: 141
Citations by year: 2026: 2 · 2025: 3 · 2024: 3 · 2023: 4 · 2022: 3 · 2021: 4 · 2020: 9 · 2019: 12 · 2018: 6 · 2017: 8 · 2016: 13 · 2015: 15 · 2014: 11 · 2013: 7 · 2012: 11
FWCI: 1.38
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Best Practice & Research Clinical Endocrinology & Metabolism (publishedVersion)
PubMed (publishedVersion)
Funders: Deutsche Forschungsgemeinschaft
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
Keywords: combined pituitary hormone deficiency, transcription factors, pituitary development, anterior pituitary, LHX3, LHX4, PROP1, Pit-1, growth hormone, somatotropic axis, genetic aetiology
MeSH terms: Amino Acid Sequence, Animals, Humans, Mutation, Pituitary Gland, Anterior, Pituitary Hormones, Transcription Factors, Homeodomain Proteins, Transcription Factor Pit-1, Mice, LIM-Homeodomain Proteins

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Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency

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