Isolated adrenocorticotropic hormone deficiency presenting as an acute neurologic emergency in a peripubertal girl

Journal of Pediatric Endocrinology and Metabolism

Volumn 21, Issue 8, 2008, Pages 799-803

  Bremer, Andrew A ^a   Ranadive, Sayali ^b   Conrad, Susan C ^c   Vallette Kasic, Sophie ^d   Rosenthal, Stephen M ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c CHILDREN S HOSPITAL OAKLAND   (United States)

^d CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

Author keywords

Adrenal insufficiency; Isolated ACTH deficiency; TPIT gene

Indexed keywords

ADRENALIN; CEFTRIAXONE; CORTICOTROPIN; DOPAMINE; GONADOTROPIN; HYDROCORTISONE; MIDAZOLAM; PHENOBARBITAL; PHENYLEPHRINE; PHENYTOIN; TETRACOSACTIDE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TPIT; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL FEATURE; CORTICOTROPIN DEFICIENCY; CORTICOTROPIN TEST; DRUG DOSE REDUCTION; DRUG MEGADOSE; ENDOCRINE FUNCTION TEST; FEMALE; FEVER; FOLLOW UP; HUMAN; HYPOTENSION; LUNG INFILTRATE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; SCHOOL CHILD; THORAX RADIOGRAPHY; TONIC CLONIC SEIZURE;

EID: 52649146416     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2008.21.8.799     Document Type: Article

References (26)

1. Andrioli M, Giraldi FP, Cavagnini F. Isolated corticotrophin deficiency. Pituitary 2006; 9: 289-295.
2. Lamolet B, Pulichino AM, Lanionerie T, Gauthier Y, Brue T, Enjalbert A, Drouin J. A pituitary cell-restricted T-box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins. Cell 2001; 104: 849-859.
3. Pulichino A-M, Vallette-Kasic S, Couture C, Gauthier Y, Brue T, David M, Malpuech G, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, Drouin J. Human and mouse TPIT gene mutations cause early onset pituitary ACTH deficiency. Genes Dev 2003; 17: 711-716.
4. Metherell LA, Savage MO, Dattani M, Walker J, Clayton PE, Farooqi IS, Clark AJ. TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency. Eur J Endocrinol 2004; 151: 463-465.
5. Vallette-Kasic S, Brue T, Pulichino A-M, Gueydan M, Barlier A, David M, Nicolino M, Malpuech G, Déchelotte P, Deal C, Van Vliet G, De Vroede M, Riepe FG, Partsch CJ, Sippell WG, Berberoglu M, Atasay B, de Zegher F, Beckers D, Kyllo J, Donohoue P, Fassnacht M, Hahner S, Allolio B, Noordam C, Dunkel L, Hero M, Pigeon B, Weill J, Yigit S, Brauner R, Heinrich JJ, Cummings E, Riddell C, Enja!bert A, Drouin J. Congenital isolated adrenocorticotropin deficiency: an underestimated cause of neonatal death, explained by TPIT gene mutations. J Clin Endocrinol Metab 2005; 90: 1323-1331.
6. Drouin J, Bilodeau S, Vallette S. Of old and new diseases: genetics of pituitary ACTH excess (Cushing) and deficiency. Clin Genet 2007; 72: 175-182.
7. Asteria C. T-box and isolated ACTH deficiency. Eur J Endocrinol 2002; 146: 463-465.
8. Odagaki T, Noguchi Y, Fukui T. Flexion contractures of the legs as the initial manifestation of adrenocortical insufficiency. Intern Med 2003; 42: 710-713.
9. Tamaya S, Ihara C, Tsuji K, Nanno M, Maekawa N, Matsuirioto S, Imai T. [Isolated ACTH deficiency with severe muscle atrophy]. Nippon Naika Gakkai Zasshi 2000; 89: 983-985.
10. Pecori Giraldi F, Fatti LM, Cavagnini F. Isolated corticotrophin deficiency presenting with pericardial effusion. J Endocrinol Invest 2005; 28: 831-833.
11. Mayinger B, Harsch IA, Axelos D, Hahn EG. [Isolated ACTH deficiency as a rare cause of recurrent syncope and hypoglycemia]. Med Klin (Munich) 2000; 95: 701-705.
12. Otsuka F, Yamamoto K, Shimada N, Kageyama J, Ogura T, Makino H. Cholestatic jaundice: an unusual symptom of isolated adrenocorticotropin deficiency in adults. J Endocrinol Invest 2004; 27: 404-405.
13. Atkin SL, Masson EA, White MC. Isolated adrenocorticotropin deficiency presenting as primary infertility. J Endocrinol Invest 1995; 18: 456-459.
14. Kalambokis G, Vassiliou V, Vergos T, Christou L, Tsatsoulis A, Tsianos EV. Isolated ACTH deficiency associated with Crohn's disease. J Endocrinol Invest 2004; 27: 961-964.
15. Corcuff JB, Lafranque P, Henry P, Roger P. Isolated corticotroph insufficiency associated to myasthenia gravis. J Endocrinol Invest 1997; 20: 669-671.
16. Yonemura K, Yasuda H, Fujigaki Y, Oki Y, Hishida A. Adrenal insufficiency due to isolated adrenocorticotropin deficiency complicated by autosomal recessive polycystic kidney disease. Ren Fail 2003; 25: 485492.
17. Ogawa K, Suzuki Y, Oishi M, Mizutani T, Nakayama T. [A case of spinocerebellar ataxia type 3 (SCA3) associated with isolated ACTH deficiency]. Rinsho Shinkeigaku 2002; 42: 149-153.
18. Aanderud S, Jorde R. ACTH deficiency, hyperprolactinemia and benign intracranial hypertension. A case report. Acta Endocrinol (Copenh) 1988; 118: 346-350.
19. Karavitaki N, Wass J, Henderson Slater JD, Wade D. A case of post-traumatic isolated ACTH deficiency with spontaneous recovery 9 months after the event. J Neurol Neurosurg Psychiatry 2006; 77: 276-277.
20. Nemoto K, Kawanishi Y, Suzuki H, Mizukami K, Asada T. Isolated adrenocorticotropic hormone deficiency presenting with delirium. Am J Psychiatry 2007; 164: 1440.
21. Hiraiwa T, Furutama D, Sakane S, Ito M, Imagawa A, Kimura F, Hanafusa T. Isolated adrenocorticotropic hormone deficiency with transient thyroiditis inducing an adrenal crisis. Med Princ Pract 2007; 16: 230-233.
22. Nozue H, Kamoda T, Imai H, Aoki T, Ichikawa K. Isolated adrenocorticotropic hormone deficiency presenting with psychomotor retardation. Pediatr Int 2007; 49: 522-525.
23. Krude H, Biebermann H, Luck W, Horn R, Babant G, Grifters A. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 1998; 19: 155-157.
24. Jackson RS, Creemers JW, Ohagi S, Raffin-Sanson ML, Sanders L, Montague CT, Hutton JC, O'Rahilly S. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 1997; 16: 303-306.
25. Kajantie E, Otonkoski T, Kivirikko S, Somer M. A syndrome with multiple malformations, mental retardation, and ACTH deficiency. Am J Med Genet 2004; 126: 313-318.
26. Grossmann M, Fuller P, Hunter A, Teede H. Isolated ACTH deficiency presenting as severe hypercalcaemia. Clin Endocrinol (Oxf) 2007; 66: 603-604.