The DOI matches its Crossref record; 136 of the 141 references it cites were found in a registry or an index.
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency
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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“The most frequently identified mutations associated with MPHD are in PROP1 [27, 34-37].”
From 2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism (2018) · cites this paper as [35]
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Krude, H., Biebermann, H., Luck, W., Horn, R., Brabant, G. E., & Grüters, A. (1998) · Nature Genetics · doi:10.1038/509 · Cited by 1,769
Molecular and Cellular Endocrinology
Rainey, W. E., & Rodgers, R. J. (2004) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2004.10.007 · Cited by 1,340
Li, S., Crenshaw, E. B., Rawson, E. J., Simmons, D. M., Swanson, L. W., & Rosenfeld, M. G. (1990) · Nature · doi:10.1038/347528a0 · Cited by 1,196
Sornson, M. W., Wu, W., Dasen, J. S., Flynn, S. E., Norman, D. J., O’Connell, S. M., Gukovsky, I., Carrière, C., Ryan, A. K., Miller, A. P., et al. (1996) · Nature · doi:10.1038/384327a0 · Cited by 786
Simmons, D. M., Voss, J. W., Ingraham, H. A., Holloway, J. M., Broide, R. S., Rosenfeld, M. G., & Swanson, L. W. (1990) · Genes & Development · doi:10.1101/gad.4.5.695 · Cited by 628
Mutations in PROP1 cause familial combined pituitary hormone deficiency
Wu, W., Cogan, J. D., Pfäffle, R. W., Dasen, J. S., Frisch, H., O’Connell, S. M., Flynn, S. E., Brown, M. R., Mullis, P. E., Parks, J. S., et al. (1998) · Nature Genetics · doi:10.1038/ng0298-147 · Cited by 562
Self-citationLamolet, B., Pulichino, A.-M., Lamonerie, T., Gauthier, Y., Brue, T. C., Enjalbert, A., & Drouin, J. (2001) · Cell · doi:10.1016/s0092-8674(01)00282-3 · Cited by 541
Genetic Regulation of Pituitary Gland Development in Human and Mouse
Kelberman, D., Rizzoti, K., Lovell-Badge, R. H., Robinson, I. C. A. F., & Dattani, M. (2009) · Endocrine Reviews · doi:10.1210/er.2009-0008 · Cited by 471
LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons.
Sharma, K., Sheng, H. Z., Lettieri, K., Li, H., Karavanov, A., Potter, S., Westphal, H., & Pfaff, S. (1998) · Cell · doi:10.1016/s0092-8674(00)81704-3 · Cited by 461
Specification of Pituitary Cell Lineages by the LIM Homeobox Gene Lhx3
SHENG, H. Z., Zhadanov, A. B., Mosinger, B. J., Fujii, T., Bertuzzi, S., Grinberg, A., Lee, E. J., Huang, S.-P., Mahon, K. A., & Westphal, H. (1996) · Science · doi:10.1126/science.272.5264.1004 · Cited by 456
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Krankheiten von Hypophyse und Hypothalamus bei Kindern und Jugendlichen
Pfäffle, R. W. (2015) · Springer eBooks · doi:10.1007/978-3-642-54671-6_87-1
Self-citationRohayem, J., Partsch, C., & Nieschlag, E. (2021) · Springer Reference Medizin · doi:10.1007/978-3-662-61904-9_13-1
Gergics, P., Smith, C., Bando, H., Jorge, A. A. L., Rockstroh, D., Vishnopolska, S. A., Castinetti, F., Maksutova, M., Carvalho, L. R. S., Hoppmann, J., et al. (2022) · Yearbook of pediatric endocrinology · doi:10.1530/ey.19.1.6
Rohayem, J., Partsch, C., & Nieschlag, E. (2023) · Springer Reference Medizin · doi:10.1007/978-3-662-61901-8_13
เหมวงศ์, น., โชติเลอศักดิ์, ว., & ศุภปีติพร, ก. (2018) · doi:10.58837/chula.the.2018.1082
Rohayem, J., Partsch, C., & Nieschlag, E. (2023) · Springer eBooks · doi:10.1007/978-3-031-31574-9_13
Familial Combined Pituitary Hormone Deficiency by a Mutation in PROP1 – a Case Report
Ahel, I. B., Severinski, S., & Čače, I. B. (2023) · The Central European Journal of Paediatrics · doi:10.5457/p2005-114.350
Exploring the Pituitary Gland Pathology, Anatomy, and Treatment Modalities: A Literature Review
Yahya, F. A., Novida, H., Wahyuhadi, J., & Prajitno, J. H. (2023) · International Journal of Research Publications · doi:10.47119/ijrp1001401120245971
Marques, J. M., Chang, C. V., Trigueiro, N. S. D. S., Araujo, R. V., Cerqueira, C. D. S., Russo, L. C., Azevedo, B., Mendonca, B. B., Hoch, N. C., & Carvalho, L. R. S. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.02.26.582133
Genetic Polymorphisms of Prokineticins and Prokineticin Receptors Associated with Human Disease
Lattanzi, R., & Miele, R. (2024) · Life · doi:10.3390/life14101254
Normal Thyroid Development and Function in the Fetus and Neonate
Lawrence, S. E., Oettingen, J. E. V., & Deladoëy, J. (2020) · Elsevier eBooks · doi:10.1016/b978-0-443-23940-3.00039-9
Pigni, S., Marsan, G., Caputo, M., Mele, C., Iftimie, M. E., Rossi, G., Pasin, R., Marzullo, P., Aimaretti, G., & Prodam, F. (2025) · Pituitary · doi:10.1007/s11102-025-01606-0
Persani, L., Casiraghi, A., & Bonomi, M. (2026) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00352-6
Çetin, S. K., Dikmen, İ., Özsu, E., Aycan, Z., Berberoğlu, M., & Şıklar, Z. (2026) · Clinical Endocrinology · doi:10.1111/cen.70198
Metadata
- Authors
- Pfäffle, R., & Klammt, J.
- Affiliations
- Leipzig University (DE)
- Corresponding author
- Pfäffle, R.
- 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)
- 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
- 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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