Familial Glucocorticoid Deficiency Differential Diagnoses

  • Author: Andrea Haqq, MD; Chief Editor: Stephen Kemp, MD, PhD   more...
 
Updated: Nov 29, 2011
 
 

Differential Diagnoses

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Contributor Information and Disclosures
Author

Andrea Haqq, MD  Assistant Professor, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Duke University Medical Center

Andrea Haqq, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Coauthor(s)

Bruce A Boston, MD  Chief, Division of Pediatric Endocrinology, Director, Pediatric Endocrine Training Program, Associate Professor, Department of Pediatrics, Division of Pediatric Endocrinology, Oregon Health Sciences University and Doernbecher Children's Hospital

Bruce A Boston, MD is a member of the following medical societies: Alpha Omega Alpha, American Diabetes Association, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Thomas A Wilson, MD  Professor of Clinical Pediatrics, Chief and Program Director, Division of Pediatric Endocrinology, Department of Pediatrics, The School of Medicine at Stony Brook University Medical Center

Thomas A Wilson, MD is a member of the following medical societies: Endocrine Society, Pediatric Endocrine Society, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London)  Professor and Chair, First Department of Pediatrics, Athens University Medical School, Aghia Sophia Children's Hospital, Greece; UNESCO Chair on Adolescent Health Care, University of Athens, Greece

George P Chrousos, MD, FAAP, MACP, MACE, FRCP(London) is a member of the following medical societies: American Academy of Pediatrics, American College of Endocrinology, American College of Physicians, American Pediatric Society, American Society for Clinical Investigation, Association of American Physicians, Endocrine Society, Pediatric Endocrine Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Merrily P M Poth, MD  Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences

Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Pediatric Endocrine Society

Disclosure: Nothing to disclose.

Chief Editor

Stephen Kemp, MD, PhD  Professor, Department of Pediatrics, Section of Pediatric Endocrinology, University of Arkansas for Medical Sciences College of Medicine, Arkansas Children's Hospital

Stephen Kemp, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Association of Clinical Endocrinologists, American Pediatric Society, Endocrine Society, Phi Beta Kappa, Southern Medical Association, and Southern Society for Pediatric Research

Disclosure: Nothing to disclose.

References

  1. Shepard TH, Landing BH, Mason DG. Familial Addison's disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism. AMA J Dis Child. Feb 1959;97(2):154-62. [Medline].

  2. Migeon CJ, Kenny EM, Kowarski A, et al. The syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six cases. Pediatr Res. Nov 1968;2(6):501-13. [Medline].

  3. Kelch RP, Kaplan SL, Biglieri EG, et al. Hereditary adrenocortical unresponsiveness to adrenocorticotropic hormone. The J of Pediatrics. 1972;81:726-736. [Medline].

  4. Moshang T Jr, Rosenfield RL, Bongiovanni AM, Parks JS, Amrhein JA. Familial glucocorticoid insufficiency. J Pediatr. May 1973;82(5):821-6. [Medline].

  5. Thistlethwaite D, Darling JA, Fraser R, et al. Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis. Arch Dis Child. Apr 1975;50(4):291-7. [Medline].

  6. Spark RF, Etzkorn JR. Absent aldosterone response to ACTH in familial glucocorticoid deficiency. N Engl J Med. Oct 27 1977;297(17):917-20. [Medline].

  7. Jain V, Metherell LA, David A, Sharma R, Sharma PK, Clark AJ, et al. Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein. Eur J Endocrinol. Dec 2011;165(6):987-91. [Medline]. [Full Text].

  8. Aza-Carmona M, Barreda-Bonis AC, Guerrero-Fernández J, González-Casado I, Gracia R, Heath KE. Familial glucocorticoid deficiency due to compound heterozygosity of two novel MC2R mutations. J Pediatr Endocrinol Metab. 2011;24(5-6):395-7. [Medline].

  9. Mountjoy KG, Robbins LS, Mortrud MT, Cone RD. The cloning of a family of genes that encode the melanocortin receptors. Science. Aug 28 1992;257(5074):1248-51. [Medline].

  10. Clark AJ, McLoughlin L, Grossman A. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet. Feb 20 1993;341(8843):461-2. [Medline].

  11. Metherell LA, Chapple JP, Cooray S, et al. Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. Nat Genet. Feb 2005;37(2):166-70. [Medline].

  12. Metherell LA, Cooray S, Huebner A, et al. Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2. Endocr Res. Nov 2004;30(4):889-90. [Medline].

  13. Allgrove J, Clayden GS, Grant DB, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet. Jun 17 1978;1(8077):1284-6. [Medline].

  14. Nihoul-Fekete C, Bawab F, Lortat-Jacob S, Arhan P. Achalasia of the esophagus in childhood. Surgical treatment in 35 cases, with special reference to familial cases and glucocorticoid deficiency association. Hepatogastroenterology. Dec 1991;38(6):510-3. [Medline].

  15. Allolio B, Reincke M. Adrenocorticotropin receptor and adrenal disorders. Horm Res. 1997;47(4-6):273-8. [Medline].

  16. Artigas RA, Gonzalez A, Riquelme E, et al. A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency. J Clin Endocrinol Metab. Aug 2008;93(8):3097-105. [Medline].

  17. Chan LF, Clark AJ, Metherell LA. Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. Horm Res. 2008;69(2):75-82. [Medline].

  18. Clark AJ, Cammas FM, Watt A, Kapas S, Weber A. Familial glucocorticoid deficiency: one syndrome, but more than one gene. J Mol Med. Jun 1997;75(6):394-9. [Medline].

  19. Elias LL, Huebner A, Metherell LA, et al. Tall stature in familial glucocorticoid deficiency. Clin Endocrinol (Oxf). Oct 2000;53(4):423-30. [Medline].

  20. Elias LL, Huebner A, Pullinger GD, Mirtella A, Clark AJ. Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype. J Clin Endocrinol Metab. Aug 1999;84(8):2766-70. [Medline].

  21. Grant DB, Dunger DB, Smith I, Hyland K. Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia. Eur J Pediatr. Feb 1992;151(2):85-9. [Medline].

  22. Heinrichs C, Tsigos C, Deschepper J, et al. Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity. Eur J Pediatr. Mar 1995;154(3):191-6. [Medline].

  23. Houlden H, Smith S, De Carvalho M, et al. Clinical and genetic characterization of families with triple A (Allgrove) syndrome. Brain. Dec 2002;125:2681-90. [Medline]. [Full Text].

  24. Huebner A, Elias LL, Clark AJ. ACTH resistance syndromes. J Pediatr Endocrinol Metab. Apr 1999;12 Suppl 1:277-93. [Medline].

  25. Imamine H, Mizuno H, Sugiyama Y, et al. Possible relationship between elevated plasma ACTH and tall stature in familial glucocorticoid deficiency. Tohoku J Exp Med. Feb 2005;205(2):123-31. [Medline].

  26. Kershnar AK, Roe TF, Kogut MD. Adrenocorticotropic hormone unresponsiveness: report of a girl with excessive growth and review of 16 reported cases. J Pediatr. Apr 1972;80(4):610-9. [Medline].

  27. Matsuura H, Shiohara M, Yamano M, Kurata K, Arai F, Koike K. Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency. J Pediatr Endocrinol Metab. Sep 2006;19(9):1167-70. [Medline].

  28. Metherell LA, Chan LF, Clark AJ. The genetics of ACTH resistance syndromes. Best Pract Res Clin Endocrinol Metab. Dec 2006;20(4):547-60. [Medline].

  29. Modan-Moses D, Ben-Zeev B, Hoffmann C, et al. Unusual presentation of familial glucocorticoid deficiency with a novel MRAP mutation. J Clin Endocrinol Metab. Oct 2006;91(10):3713-7. [Medline].

  30. Moshang T Jr. Familial glucocorticoid deficiency. N Engl J Med. Feb 2 1978;298(5):282-3. [Medline].

  31. Naville D, Barjhoux L, Jaillard C, et al. Stable expression of normal and mutant human ACTH receptor: study of ACTH binding and coupling to adenylate cyclase. Mol Cell Endocrinol. Apr 25 1997;129(1):83-90. [Medline].

  32. Naville D, Weber A, Genin E, et al. Exclusion of the adrenocorticotropin (ACTH) receptor (MC2R) locus in some families with ACTH resistance but no mutations of the MC2R coding sequence (familial glucocorticoid deficiency type 2). J Clin Endocrinol Metab. Oct 1998;83(10):3592-6. [Medline]. [Full Text].

  33. New MI, Rapaport R, Sperling MA. Adrenal insufficiency. In: Pediatric Endocrinology. WB Saunders; 1996:301-305.

  34. O'Riordan SM, Lynch SA, Hindmarsh PC, Chan LF, Clark AJ, Costigan C. A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population. J Clin Endocrinol Metab. Jul 2008;93(7):2896-9. [Medline].

  35. Ramachandran P, Penhoat A, Naville D, et al. Familial glucocorticoid deficiency type 2 in two neonates. J Perinatol. Jan 2003;23(1):62-6. [Medline].

  36. Selva KA, LaFranchi SH, Boston B. A novel presentation of Familial Glucocorticoid Deficiency (FGD) and current literature review. J Pediatr Endocrinol Metab. 2004;17:85-92. [Medline].

  37. Shah BR, Fiordalisi I, Sheinbaum K, Finberg L. Familial glucocorticoid deficiency in a girl with familial hypophosphatemic rickets. Am J Dis Child. Aug 1988;142(8):900-3. [Medline].

  38. Slavotinek AM, Hurst JA, Dunger D, Wilkie AO. ACTH receptor mutation in a girl with familial glucocorticoid deficiency. Clin Genet. Jan 1998;53(1):57-62. [Medline].

  39. Stempfel RS, Engel FL. A congenital familial syndrome of adrenocortical insufficiency without hypoaldosteronism. J Pediatr. 1960;57:443-451. [Full Text].

  40. Tanae A, Aoyama M, Egi S, Imai M, Yoshihara S. Familial Addison's disease. Clinical studies on three cases of the same family. Acta Paediatr Jpn. Dec 1971;13(2):1-12. [Medline].

  41. Tsigos C, Arai K, Hung W, Chrousos GP. Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest. Nov 1993;92(5):2458-61. [Medline]. [Full Text].

  42. Tullio-Pelet A, Salomon R, Hadj-Rabia S, et al. Mutant WD-repeat protein in triple-A syndrome. Nat Genet. Nov 2000;26(3):332-5. [Medline].

  43. Weber A, Clark AJ. Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. Hum Mol Genet. Apr 1994;3(4):585-8. [Medline].

  44. Weber A, Kapas S, Hinson J, et al. Functional characterization of the cloned human ACTH receptor: impaired responsiveness of a mutant receptor in familial glucocorticoid deficiency. Biochem Biophys Res Commun. Nov 30 1993;197(1):172-8. [Medline].

  45. Weber A, Toppari J, Harvey RD, et al. Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metab. Jan 1995;80(1):65-71. [Medline].

 
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