This Article Full Text Full Text (PDF) Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Request Copyright Permission Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Clark, A. J. L. Articles by Weber, A. Search for Related Content PubMed PubMed Citation Articles by Clark, A. J. L. Articles by Weber, A.

Adrenocorticotropin Insensitivity Syndromes

Departments of Endocrinology (A.J.L.C.), St. Bartholomew’s and the Royal London School of Medicine and Dentistry, West Smithfield, London EC1A 7BE, United Kingdom; and Children’s Hospital (A.W.), Technical University Dresden, D-01307 Dresden, Germany

I. Introduction

II. Familial Glucocorticoid Deficiency

A. Clinical presentation

B. Investigation

C. Treatment

D. Pathogenesis

III. Triple A Syndrome

A. Clinical features

B. Treatment

C. Pathogenesis

D. Mapping of triple A syndrome gene

E. Candidate genes

IV. Acquired ACTH Resistance

V. Conclusions

This article has been cited by other articles:

				C. V. A. Collares, J. Antunes-Rodrigues, A. C. Moreira, S. N. Franca, L. A. Pereira, M. M. S. Soares, J. Elias Junior, A. J Clark, M. de Castro, and L. L. K. Elias Heterogeneity in the molecular basis of ACTH resistance syndrome. Eur. J. Endocrinol., July 1, 2008; 159(1): 61 - 68. [Abstract] [Full Text] [PDF]

				S. M. P. O'Riordan, S. A. Lynch, P. C. Hindmarsh, L. F. Chan, A. J. L. Clark, and C. Costigan A Novel Variant of Familial Glucocorticoid Deficiency Prevalent among the Irish Traveler Population J. Clin. Endocrinol. Metab., July 1, 2008; 93(7): 2896 - 2899. [Abstract] [Full Text] [PDF]

				M. E. Janes, K. M. E. Chu, A. J. L. Clark, and P. J. King Mechanisms of Adrenocorticotropin-Induced Activation of Extracellularly Regulated Kinase 1/2 Mitogen-Activated Protein Kinase in the Human H295R Adrenal Cell Line Endocrinology, April 1, 2008; 149(4): 1898 - 1905. [Abstract] [Full Text] [PDF]

				D. Chida, S. Nakagawa, S. Nagai, H. Sagara, H. Katsumata, T. Imaki, H. Suzuki, F. Mitani, T. Ogishima, C. Shimizu, et al. Melanocortin 2 receptor is required for adrenal gland development, steroidogenesis, and neonatal gluconeogenesis PNAS, November 13, 2007; 104(46): 18205 - 18210. [Abstract] [Full Text] [PDF]

				H Rumie, L A Metherell, A J L Clark, V Beauloye, and M Maes Clinical and biological phenotype of a patient with familial glucocorticoid deficiency type 2 caused by a mutation of melanocortin 2 receptor accessory protein Eur. J. Endocrinol., October 1, 2007; 157(4): 539 - 542. [Abstract] [Full Text] [PDF]

				J. K Yeh, J. F Evans, Q.-T. Niu, and J. F Aloia A possible role for melanocortin peptides in longitudinal growth J. Endocrinol., December 1, 2006; 191(3): 677 - 686. [Abstract] [Full Text] [PDF]

				D. Modan-Moses, B. Ben-Zeev, C. Hoffmann, T. C. Falik-Zaccai, Y. A. Bental, O. Pinhas-Hamiel, and Y. Anikster Unusual Presentation of Familial Glucocorticoid Deficiency with a Novel MRAP Mutation J. Clin. Endocrinol. Metab., October 1, 2006; 91(10): 3713 - 3717. [Abstract] [Full Text] [PDF]

				A. Huebner, P. Mann, E. Rohde, A. M. Kaindl, M. Witt, P. Verkade, S. Jakubiczka, M. Menschikowski, G. Stoltenburg-Didinger, and K. Koehler Mice Lacking the Nuclear Pore Complex Protein ALADIN Show Female Infertility but Fail To Develop a Phenotype Resembling Human Triple A Syndrome. Mol. Cell. Biol., March 1, 2006; 26(5): 1879 - 1887. [Abstract] [Full Text] [PDF]

				O. Zwermann, D. M Schulte, M. Reincke, and F. Beuschlein ACTH 1-24 inhibits proliferation of adrenocortical tumors in vivo Eur. J. Endocrinol., September 1, 2005; 153(3): 435 - 444. [Abstract] [Full Text] [PDF]

				J. F. Evans, C.-L Shen, S. Pollack, J. F. Aloia, and J. K. Yeh Adrenocorticotropin Evokes Transient Elevations in Intracellular Free Calcium ([Ca2+]i) and Increases Basal [Ca2+]i in Resting Chondrocytes through a Phospholipase C-Dependent Mechanism Endocrinology, July 1, 2005; 146(7): 3123 - 3132. [Abstract] [Full Text] [PDF]

				J. Karpac, D. Ostwald, S. Bui, P. Hunnewell, M. Shankar, and U. Hochgeschwender Development, Maintenance, and Function of the Adrenal Gland in Early Postnatal Proopiomelanocortin-Null Mutant Mice Endocrinology, June 1, 2005; 146(6): 2555 - 2562. [Abstract] [Full Text] [PDF]

				G. D. Hammer, K. L. Parker, and B. P. Schimmer Minireview: Transcriptional Regulation of Adrenocortical Development Endocrinology, March 1, 2005; 146(3): 1018 - 1024. [Abstract] [Full Text] [PDF]

				A. P. Coll, B. G. Challis, G. S. H. Yeo, K. Snell, S. J. Piper, D. Halsall, R. R. Thresher, and S. O'Rahilly The Effects of Proopiomelanocortin Deficiency on Murine Adrenal Development and Responsiveness to Adrenocorticotropin Endocrinology, October 1, 2004; 145(10): 4721 - 4727. [Abstract] [Full Text] [PDF]

				W. J. Kovacs Editorial: Toward Understanding Variation in Responsiveness to Hormones J. Clin. Endocrinol. Metab., July 1, 2004; 89(7): 3129 - 3130. [Full Text] [PDF]

				H. Krude, H. Biebermann, D. Schnabel, M. Z. Tansek, P. Theunissen, P. E. Mullis, and A. Gruters Obesity Due to Proopiomelanocortin Deficiency: Three New Cases and Treatment Trials with Thyroid Hormone and ACTH4-10 J. Clin. Endocrinol. Metab., October 1, 2003; 88(10): 4633 - 4640. [Abstract] [Full Text] [PDF]

				J. M. Cronshaw and M. J. Matunis The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome PNAS, May 13, 2003; 100(10): 5823 - 5827. [Abstract] [Full Text] [PDF]

				M. Fassnacht, S. Hahner, I. A. Hansen, T. Kreutzberger, M. Zink, K. Adermann, F. Jakob, J. Troppmair, and B. Allolio N-Terminal Proopiomelanocortin Acts as a Mitogen in Adrenocortical Tumor Cells and Decreases Adrenal Steroidogenesis J. Clin. Endocrinol. Metab., May 1, 2003; 88(5): 2171 - 2179. [Abstract] [Full Text] [PDF]

				H. Houlden, S. Smith, M. de Carvalho, J. Blake, C. Mathias, N. W. Wood, and M. M. Reilly Clinical and genetic characterization of families with triple A (Allgrove) syndrome Brain, December 1, 2002; 125(12): 2681 - 2690. [Abstract] [Full Text] [PDF]

				F. M. Swords, A. Baig, D. M. Malchoff, C. D. Malchoff, M. O. Thorner, P. J. King, L. Hunyady, and A. J. L. Clark Impaired Desensitization of a Mutant Adrenocorticotropin Receptor Associated with Apparent Constitutive Activity Mol. Endocrinol., December 1, 2002; 16(12): 2746 - 2753. [Abstract] [Full Text] [PDF]

				C. E. Fluck, J. W. M. Martens, F. A. Conte, and W. L. Miller Clinical, Genetic, and Functional Characterization of Adrenocorticotropin Receptor Mutations Using a Novel Receptor Assay J. Clin. Endocrinol. Metab., September 1, 2002; 87(9): 4318 - 4323. [Abstract] [Full Text] [PDF]

				R. W. Orrell and A. J.L. Clark ALADIN, but where's the Genie? Neurology, March 26, 2002; 58(6): 847 - 848. [Full Text] [PDF]

				F. Sandrini, C. Farmakidis, L. S. Kirschner, S.-M. Wu, A. Tullio-Pelet, S. Lyonnet, D. L. Metzger, C. J. Bourdony, D. Tiosano, W.-Y. Chan, et al. Spectrum of Mutations of the AAAS Gene in Allgrove Syndrome: Lack of Mutations in Six Kindreds with Isolated Resistance to Corticotropin J. Clin. Endocrinol. Metab., November 1, 2001; 86(11): 5433 - 5437. [Abstract] [Full Text] [PDF]

				K. Handschug, S. Sperling, S.-J. K. Yoon, S. Hennig, A. J.L. Clark, and A. Huebner Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene Hum. Mol. Genet., February 1, 2001; 10(3): 283 - 290. [Abstract] [Full Text] [PDF]

				L. L. K. Elias, A. Huebner, G. D. Pullinger, A. Mirtella, and A. J. L. Clark Functional Characterization of Naturally Occurring Mutations of the Human Adrenocorticotropin Receptor: Poor Correlation of Phenotype and Genotype J. Clin. Endocrinol. Metab., August 1, 1999; 84(8): 2766 - 2770. [Abstract] [Full Text]