Molecular Basis of Combined Pituitary Hormone Deficiencies
Laurie E. Cohen and
Sally Radovick
Division of Endocrinology (L.E.C.), Childrens Hospital and Harvard Medical School, Boston, Massachusetts 02115; and Division of Pediatric Endocrinology (S.R.), University of Chicago, Chicago, Illinois 60637
Correspondence: Address all correspondence and requests for reprints to: Sally Radovick, M.D., Department of Pediatrics, University of Chicago, 5841 South Maryland Avenue, MC5053, Chicago, Illinois 60637. E-mail: sradovic{at}peds.bsd.uchicago.edu
Pituitary gland commitment from oral ectoderm occurs in responseto inductive signals from the neuroepithelium of the ventraldiencephalon. Invagination of the oral ectoderm leads to thecreation of Rathkes pouch. Intensified cell proliferationwithin Rathkes pouch results in formation of the anteriorpituitary lobe. Subsequently, highly differentiated cell typesarise sequentially due to overlapping, but distinct, spatialand temporal patterns of signaling molecules and transcriptionfactors. Mutations in some of the pituitary-specific transcriptionfactors have been identified in patients with hypopituitarism,confirming the role of these factors in pituitary development.
This article has been cited by other articles:
S. Dateki, K. Kosaka, K. Hasegawa, H. Tanaka, N. Azuma, S. Yokoya, K. Muroya, M. Adachi, T. Tajima, K. Motomura, et al. Heterozygous Orthodenticle Homeobox 2 Mutations Are Associated with Variable Pituitary Phenotype
J. Clin. Endocrinol. Metab.,
February 1, 2010;
95(2):
756 - 764.
[Abstract][Full Text][PDF]
D. Gautam, J. Jeon, M. F. Starost, S.-J. Han, F. F. Hamdan, Y. Cui, A. F. Parlow, O. Gavrilova, I. Szalayova, E. Mezey, et al. Neuronal M3 muscarinic acetylcholine receptors are essential for somatotroph proliferation and normal somatic growth
PNAS,
April 14, 2009;
106(15):
6398 - 6403.
[Abstract][Full Text][PDF]
Y. Kashiwabara, S. Sasaki, A. Matsushita, K. Nagayama, K. Ohba, H. Iwaki, H. Matsunaga, S. Suzuki, H. Misawa, K. Ishizuka, et al. Functions of PIT1 in GATA2-dependent transactivation of the thyrotropin {beta} promoter
J. Mol. Endocrinol.,
March 1, 2009;
42(3):
225 - 237.
[Abstract][Full Text][PDF]
T. Tajima, A. Ohtake, M. Hoshino, S. Amemiya, N. Sasaki, K. Ishizu, and K. Fujieda OTX2 Loss of Function Mutation Causes Anophthalmia and Combined Pituitary Hormone Deficiency with a Small Anterior and Ectopic Posterior Pituitary
J. Clin. Endocrinol. Metab.,
January 1, 2009;
94(1):
314 - 319.
[Abstract][Full Text][PDF]
E. M Delemarre, B. Felius, and H. A Delemarre-van de Waal Inducing puberty
Eur. J. Endocrinol.,
December 1, 2008;
159(suppl_1):
S9 - S15.
[Abstract][Full Text][PDF]
D. Kelberman and M. T. Dattani Hypothalamic and pituitary development: novel insights into the aetiology
Eur. J. Endocrinol.,
August 1, 2007;
157(suppl_1):
S3 - S14.
[Abstract][Full Text][PDF]
T. Wells Redefining Ancestral Relationships in Pituitary Cell Genealogy
Endocrinology,
May 1, 2007;
148(5):
1943 - 1945.
[Full Text][PDF]
A. Matsushita, S. Sasaki, Y. Kashiwabara, K. Nagayama, K. Ohba, H. Iwaki, H. Misawa, K. Ishizuka, and H. Nakamura Essential Role of GATA2 in the Negative Regulation of Thyrotropin {beta} Gene by Thyroid Hormone and Its Receptors
Mol. Endocrinol.,
April 1, 2007;
21(4):
865 - 884.
[Abstract][Full Text][PDF]
I. A. Demarco, T. C. Voss, C. F. Booker, and R. N. Day Dynamic Interactions between Pit-1 and C/EBP{alpha} in the Pituitary Cell Nucleus
Mol. Cell. Biol.,
November 1, 2006;
26(21):
8087 - 8098.
[Abstract][Full Text][PDF]
M. E. Molitch, D. R. Clemmons, S. Malozowski, G. R. Merriam, S. M. Shalet, M. L. Vance, and for The Endocrine Society's Clinical Guidelines Su Evaluation and Treatment of Adult Growth Hormone Deficiency: An Endocrine Society Clinical Practice Guideline
J. Clin. Endocrinol. Metab.,
May 1, 2006;
91(5):
1621 - 1634.
[Abstract][Full Text][PDF]
Y. Sun, F. Zhang, J. Gao, X. Gao, T. Guo, K. Zhang, Y. Shi, Z. Zheng, W. Tang, Y. Zheng, et al. Positive association between POU1F1 and mental retardation in young females in the Chinese Han population
Hum. Mol. Genet.,
April 1, 2006;
15(7):
1237 - 1243.
[Abstract][Full Text][PDF]
N. Weintrob, J. Drouin, S. Vallette-Kasic, E. Taub, D. Marom, Y. Lebenthal, G. Klinger, E. Bron-Harlev, and M. Shohat Low Estriol Levels in the Maternal Triple-Marker Screen as a Predictor of Isolated Adrenocorticotropic Hormone Deficiency Caused by a New Mutation in the TPIT Gene
Pediatrics,
February 1, 2006;
117(2):
e322 - e327.
[Abstract][Full Text][PDF]
R. N. Cohen, T. Brue, K. Naik, C. A. Houlihan, F. E. Wondisford, and S. Radovick The Role of CBP/p300 Interactions and Pit-1 Dimerization in the Pathophysiological Mechanism of Combined Pituitary Hormone Deficiency
J. Clin. Endocrinol. Metab.,
January 1, 2006;
91(1):
239 - 247.
[Abstract][Full Text][PDF]
I. Huerta-Ocampo, H. C. Christian, N. M. Thompson, M. M. El-Kasti, and T. Wells The Intermediate Lactotroph: A Morphologically Distinct, Ghrelin-Responsive Pituitary Cell in the Dwarf (dw/dw) Rat
Endocrinology,
November 1, 2005;
146(11):
5012 - 5023.
[Abstract][Full Text][PDF]
J. P. G. Turton, R. Reynaud, A. Mehta, J. Torpiano, A. Saveanu, K. S. Woods, A. Tiulpakov, V. Zdravkovic, J. Hamilton, S. Attard-Montalto, et al. Novel Mutations within the POU1F1 Gene Associated with Variable Combined Pituitary Hormone Deficiency
J. Clin. Endocrinol. Metab.,
August 1, 2005;
90(8):
4762 - 4770.
[Abstract][Full Text][PDF]
S. Vallette-Kasic, T. Brue, A.-M. Pulichino, M. Gueydan, A. Barlier, M. David, M. Nicolino, G. Malpuech, P. Dechelotte, C. Deal, et al. Congenital Isolated Adrenocorticotropin Deficiency: An Underestimated Cause of Neonatal Death, Explained by TPIT Gene Mutations
J. Clin. Endocrinol. Metab.,
March 1, 2005;
90(3):
1323 - 1331.
[Abstract][Full Text][PDF]
R. Reynaud, M. Chadli-Chaieb, S. Vallette-Kasic, A. Barlier, J. Sarles, I. Pellegrini-Bouiller, A. Enjalbert, L. Chaieb, and T. Brue A Familial Form of Congenital Hypopituitarism Due to a PROP1 Mutation in a Large Kindred: Phenotypic and in Vitro Functional Studies
J. Clin. Endocrinol. Metab.,
November 1, 2004;
89(11):
5779 - 5786.
[Abstract][Full Text][PDF]
A. Bottner, E. Keller, J. Kratzsch, H. Stobbe, J. F. W. Weigel, A. Keller, W. Hirsch, W. Kiess, W. F. Blum, and R. W. Pfaffle PROP1 Mutations Cause Progressive Deterioration of Anterior Pituitary Function including Adrenal Insufficiency: A Longitudinal Analysis
J. Clin. Endocrinol. Metab.,
October 1, 2004;
89(10):
5256 - 5265.
[Abstract][Full Text][PDF]
A. Voutetakis, M. Argyropoulou, A. Sertedaki, S. Livadas, P. Xekouki, M. Maniati-Christidi, I. Bossis, N. Thalassinos, N. Patronas, and C. Dacou-Voutetakis Pituitary Magnetic Resonance Imaging in 15 Patients with Prop1 Gene Mutations: Pituitary Enlargement May Originate from the Intermediate Lobe
J. Clin. Endocrinol. Metab.,
May 1, 2004;
89(5):
2200 - 2206.
[Abstract][Full Text][PDF]
A. Mehta, P. C. Hindmarsh, R. G. Stanhope, C. E. Brain, M. A. Preece, and M. T. Dattani Is the Thyrotropin-Releasing Hormone Test Necessary in the Diagnosis of Central Hypothyroidism in Children
J. Clin. Endocrinol. Metab.,
December 1, 2003;
88(12):
5696 - 5703.
[Abstract][Full Text][PDF]
R. N. Cohen, L. E. Cohen, D. Botero, C. Yu, A. Sagar, M. Jurkiewicz, and S. Radovick Enhanced Repression by HESX1 as a Cause of Hypopituitarism and Septooptic Dysplasia
J. Clin. Endocrinol. Metab.,
October 1, 2003;
88(10):
4832 - 4839.
[Abstract][Full Text][PDF]
N. de Roux, E. Genin, J.-C. Carel, F. Matsuda, J.-L. Chaussain, and E. Milgrom Hypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
PNAS,
September 16, 2003;
100(19):
10972 - 10976.
[Abstract][Full Text][PDF]
A.-M. Pulichino, S. Vallette-Kasic, C. Couture, Y. Gauthier, T. Brue, M. David, G. Malpuech, C. Deal, G. Van Vliet, M. De Vroede, et al. Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency
Genes & Dev.,
March 15, 2003;
17(6):
711 - 716.
[Abstract][Full Text][PDF]