1. Orth DN, Kovacs WJ. The adrenal cortex. In Williams Textbook of Endocrinology, ed. JD Wilson, DW Foster, HM Kronenberg, PR Larson, pp. 517-664. Philadelphia: W.B. Saunders Company.

2. Tsigos C, Chrousos GP. Physiology of the hypothalamic-pituitary adrenal axis in health and dysregulation in psychiatric and autoimmune disorders. Endocrinol Metab Clin N Am 1994;23:451-466.

3. Tsigos C. Isolated glucocorticoid deficiency and ACTH receptor mutations. Arch Med Res 1999;30:475-480.

4. Clark AJ, Weber A. Adrenocorticotropin insensitivity syndromes. Endocr Rev 1998;19:828-843.

5. Tsigos C, Chrousos GP. ACTH Resistance Syndromes. In: Spiegel AM, editor. G Proteins, Receptors and Disease. Totowa, New Jersey: Humana Press; 1998, p, 261-269.

6. Sheppard TH, Landing BE, Mason DG. Familial Addison's disease. Case report of two sisters with corticoid deficiency unassociated with hypoaldosteronism. J Dis Child 1959;97:154-162.

7. Migeon CJ, Kenny FM, Kowarski A, Snipes CA, Spaulding JS, Finkelstein JW, Blizzard RM. The syndrome of congenital unresponsiveness to ACTH. Report of six cases. Pediat Res 1968;2:501-513.

8. Thistletwaite D, Darling JAB, Fraser R, Mason PA, Rees LH, Harkness RA. Familial glucocorticoid deficiency. Studies of diagnosis and pathogenesis. Arch Dis Child 1975;50:291-297.

9. Spark RF, Etzkorn JR. Absent aldosterone response to ACTH in familial glucocorticoid deficiency. N Engl J Med 1977;297:917-920.

10. Mountjoy KG, Robbins LS, Mortrud MT, Cone RD. The cloning of a family of genes that encode the melanocortin receptors. Science 1992;257:1248-1251.

11. Cone RD, Lu D, Koppula S et al. The melanocortin receptors: agonists, antagonists, and the hormonal control of pigmentation. Recent Prog Horm Res 1996;51:287-317.

12. Vamvakopoulos NC, Durkin S, Nierman W, Chrousos GP. Mapping of the human adrenocorticotropin hormone receptor (ACTH-R) gene to the small arm of chromosome 18 (18p. 11.21-pter.). Genomics 1993;18:454-455.

13. Naville D, Penhoat A, Durand P, Begeot M. Three steroidogenic factor-1 binding elements are required for constitutive and cAMP-regulated expression of the human adrenocorticotropin receptor gene. Bioch Biophys Res Commun 1999;255:28-33.

14. Tsigos C, Arai K, Latronico AC, Weber E, Chrousos GP. Receptors for melanocortin peptides in the hypothalamic-pituitary-adrenal axis and skin. Ann NY Acad Sci 1995;771:352-363.

15. Tsigos C, Arai K, Hung W, Chrousos GP. Hereditary isoalated glucocorticoid deficiency associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 1993;92:2458-2461.

16. Tsigos C, Arai K, Latronico AC, DiGeorge AM, Rapaport R, Chrousos GP. A novel mutation of the adrenocorticotropin receptor (ACTH-R) gene in a family with the syndrome of isolated glucocorticoid deficiency, but no ACTH-R abnormalities in two families with the triple A syndrome. J Clin Endocrinol Metab 1995;80:875-877.

17. Clark AJL, McLoughlin L, Grossman A. Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor. Lancet 1993;341:461-462.

18. Weber A, Toppari J, Harvey RD, Klann RC, Shaw NJ, Ricker AT, Nanto-Salonen K, Bevan JS, Clark AJL. Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families. J Clin Endocrinol Metab 1995;80:65-71.

19. Elias LLK, Klann R, Prarasam G, Pullinger G, Canas TA, Clark AJL. Severe ACTH insensitivity results from a novel compound heterozygote mutation of the ACTH receptor. 79th Annual Meeting of the Endocrine Society, Minneapolis (Abstract): 1997;P2-506.

20. Penhoat A, Naville D, El Mourabit H, Durand P, Begeot M. Novel mutations of the ACTH receptor gene are responsible of the syndrome isolated familial glucocorticoid deficiency (FGD) in three independent families. 81st Annual Meeting of the Endocrine Society, San Diego (Abstract): 1999;P2-288.

21. Ishii T, Ogata T, Sasaki G, Sato S, Kinoshita EI, Matsuo N. Novel mutations of the ACTH receptor gene in a female adult patient with adrenal unresponsiveness to ACTH.
Clin Endocrinol (Oxf). 2000;53:389-92.

22. Wu SM, Stratakis CA, Chan CHY, Hallermeier KM, Bourdony CJ, Rennert OM, Chan WY. Genetic heterogeneity of adrenocorticotropin (ACTH) resistance syndromes: identification of a novel mutation of the ACTH receptor gene. Mol Genet Metab 1998;64:256-265.

23. Tsigos C, Tsiotra P, Garibaldi LR, Stavridis JC, Chrousos GP, Raptis SA. Mutations of the ACTH receptor gene in a new family with isolated glucocorticoid deficiency. Mol Genet Metab. 2000;71:646-50.

24. Naville D, Barjhoux L, Jaillard C, Fauty D, Despert F, Esteva B, Durand P, Saez JM, Begeot M. Demonstration by tranfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency. J Clin Endocrinol Metab 1996;81:1442-1448.

25. Weber A, Clark AJL. Mutations of the ACTH receptor gene are only one cause of familial glucocorticoid deficiency. Hum Mol Genet 1993;58:5-588.

26. Allgrove J, Clayden GS, Grant BD, Macaulay JC. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production. Lancet 1978;1:1284-1286.

27. Geffner ME, Lippe BM, Kaplan SA, Berquist WE, Bateman JB, Paterno VI, Seegan R. Selective ACTH insensitivity, achalasia, and alacrima: a multi-system disorder presenting in childhood. Pediatr Res 1983;17:532-536.

28. Moore PSJ, Couch RM, Perry YS, Shuckett EP, Winter JSD. Allgrove syndrome: an autosomal recessive syndrome of ACTH insensitivity, achalasia and alacrima. Clin Endocrinol 1991;34:107-114.

29. Grant DB, Barnes ND, Dumic M, Ginalska-Malinowska M, Milla PJ, Petrykowski W, Rowlatt RJ, Steendijk R, Wales JHK, Werder E. Neurological and adrenal dysfunction in the adrenal insufficiency/alacrima/achalasia (3A) syndrome. Arch Dis Child 1993;68:779-782.

30. Heinrichs C, Tsigos C, Deschepper J, Dugardeyn C, Goyens P, Ganem G, Bosson D, Van Vliet G. Clinical and physiological heterogeneity in two siblings with hereditary resistance to adrenocorticotropin: biochemical and molecular studies. Eur J Paed 1995;154:191-196.

31. Weber A, Wienker TF, Jung M, et al. Linkage of the gene for the triple A syndrome to chromosome 12q13 near the type II keratin gene cluster. Hum Mol Gen 1996;12:2061-2066.

32. Pelet-Tullio A, Salomon R, Hadj-Rabia S, et al. Mutant WD-repeat protein in triple A syndrome. Nat Gen 2000;26:332-335.

33. Hanschug K, Sperling S, Yoon KS-J, Hennig S, Clark AJL, Huebner A. Triple A syndrome id caused by mutations in AAAS, a new WD-repeat protein gene. Hum Mol Genet 2001;10:283-290.

34. Sandrini F, Farmakidis C, Kirschner LS, et al. Spectrum of mutations of the AAAS gene in Allgrove syndrome: Lack of mutations in six kindrends with isolated resistance to corticotropin. J Clin Endocrinol Metab 2001;86:5433-5437.

35. Mucatelli F, Strom TM, Walker AP, et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadoropic hypogonadism. Nature 1994;372:672-676.

36. Zanaria E, Muscatelli F, Bardoni B, et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. Nature 1994;372:635-641.

37. Guo W, Burris TP, McCabe ERB. Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/gonadal axis. Biochem Mol Med 1995;56:8-13.

38. Aschermann JC, Meeks JJ, Jameson JL. Phenotypic spectrum of mutations in DAX-1 and SF-1. Mol Cell Endocrinol 2001;185:17-25.

39. Reutens AT, Achermann JC, Ito M, et al. Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab 1999;84:504-511.

40. Peter M, Viemman M, Partsch CJ, Sippell WG. Congenital adrenal hypoplasia: clinical spectrum, experience with hormonal diagnosis and report on new point mutations of the DAX-1 gene. J Clin Endocrinol Metab 1998;83:2666-2674.

41. Mantovani G, Ozisik G, Aschermann JC, et al. Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita. J Clin Endocrinol Metab 2002;87:44-48.

42. Habiby RL, Boepple P, Nachtigall L, Sluss PM, Crowley JrWF, Jameson JL. Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalamic and pituitary defects in gonadotropin production. J Clin Invest 1996;98:1055-1062.

43. Seminara SB, Aschermann JC, Genel M, Jameson JL, Crowley Jr WF. X-linked adrenal hypoplasia congenita: a mutation in DAX-1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 1999;84:4501-4509.

44. Tabarin A, Aschermann JC, Recan D, et al. A novel mutation in DAX-1 causes delayed onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism. J Clin Invest 2000;105:321-328.

45. Merke DP, Tajima T, Baron J, Cutler Jr GB. Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX-1 gene. N Engl J Med 1999;340:1248-1252.

46. Wong M, Ramayya MS, Chrousos GP, Driggers PH, Parker KL. Cloning and sequencing analysis of the human gene encoding steroidogenic factor 1. J Mol Endocrinol 1996; 17:139-147.

47. Luo X, Ikeda Y, Lala D, Rice D, Wong M, Parker KL. Steroidogenic factor I (SF-1) is essential for endocrine development and function. J Steroid Biochem Mol Biol 1999;69:13-18.

48. Ramayya MS, Zhou J, Kino T, Segars JH, Bondy CA, Chrousos GP. Steroidogenic factor-1 (hSF-1) mRNA expression in steroidogenic and non-steroidogenic human tissues: Noerhtern blot and in situ hybridization studies. J Clin Endocrinol Metab 1997;82:1799-1806.

49. Aschermann JC, Ito M, Hindmarsch PC, Jameson JL. A mutation in the gene encoding steroidogenic factor-1 causes XY sex-reversal and adrenal failure in humans. Nat Genet 1999;22:125-126.

50. Biason-Lauber A, Schoenle EJ. Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1(NRA1/SF-1) and adrenocortical insufficiency. Am J Hum Genet 2000;67:1563-1568.