Leprechaunism in two Turkish patients

Turkish Journal of Pediatrics

Volumn 39, Issue 3, 1997, Pages 387-393

  Gürgey, Aytemiz ^a   Göǧüş, Safiye ^a   Saatçi, Ümit ^a   Bilginturan, Nihat ^a   Yordam, Nurşen ^a   Coşkun, Turgay ^a   Özkutlu, Süheyla ^a   Şahin, Nilüfer ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Donohue syndrome; Insulin resistance; Islet cell hyperplasia; Leprechaunism

Indexed keywords

INSULIN RECEPTOR;

ARTICLE; CASE REPORT; FEMALE; GENETICS; GROWTH DISORDER; HUMAN; INFANT; KIDNEY; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; OVARY; PATHOLOGY; SYNDROME;

ABNORMALITIES, MULTIPLE; FEMALE; GROWTH DISORDERS; HUMANS; INFANT; INFANT, NEWBORN; KIDNEY; MALE; OVARY; RECEPTOR, INSULIN; SYNDROME;

EID: 0031181983     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. Donohue WL. Dysendocrinism. J Pediatr 1948; 32: 739-748.
2. Donohue WL. Uchida I. Leprechaunism. A euphemism for a rare familial disorder. J Pediatr 1954; 45: 505-519.
3. Salmon MA, Weeb JN. Dystrophic changes associated with leprechaunism in a male infant. Arch Dis Child 1963; 38: 530-535.
4. Kallo A, Lakatos I, Szijarto I. Leprechaunism (Donohue's syndrome). J Pediatr 1965; 66: 372-379.
5. Summitt RL, Favora BE. Leprechaunism (Donohue's syndrome). A case report. J Pediatr 1969; 74: 601-610.
6. Ordway NK, Stout LC. Intrauterine growth retardation, jaundice and hypoglycemia in a neonate. J Pediatr 1973; 83: 867-874.
7. Hartdegen RG. Dogliotti M, Rabinoitz, Bartlett R. Leprechaunism. A case report in a black African child. Br J Dermatol 1975; 93: 587-591.
8. Rosenberg AM, Haworth JC, Degroot GW, et al. A case of leprechaunism with severe hyperinsulinemia. Am J Dis Child 1980; 134: 170-175.
9. Kashiwa H, Kawaguchi S, Takeda M, et al. Insulin resistance in an infant with leprechaunism. Acta Paediatr Scand 1984; 73: 701-704.
10. Patterson JH, Watkins WL. Leprechaunism in a male infant. J Pediatr 1992; 60: 730-739.
11. D'Ercole AJ, Underwood LE, Groelke J, et al. Leprechanunism: studies of the relationship among hyperinsulinism, insulin resistance, and growth retardation. J Clin Endocrinol Metab 1979; 48: 495-502.
12. Algazali LI, Khalil M, Devadas K. Syndrome of insulin resistance resembling leprechaunism in five sibs of consanguineous parents. J Med Genet 1993; 30: 470-475.
13. Geffner ME, Kaplan SA, Bersch N, et al. Leprechaunism: in vitro insulin action despite genetic insulin resistance. Pediatr Res 1987; 22: 286-291.
14. Grigorescu F, Herzberg V, King G, et al. Defects in insulin binding and autophosphorylation of erythrocyte insulin receptors in patients with syndromes of severe insulin resistance and their parents. J Clin Endocrinol Metab 1987; 64: 549-556.
15. Krook A, Brueton L, O'Rahilly S. Homozygous nonsense mutation in the insulin receptor gene in infant with leprechaunism. Lancet 1993; 342: 277-278.
16. Kuzuya H, Matsuura N, Sakamota M, et al. Trial of insulin-like growth factor 1 therapy for patients with extreme insulin resistance syndromes. Diabetes 1993; 42: 696-705.
17. Flier JS. Lilly Lecture: Syndromes of insulin resistance. From patient to gene and back again. Diabetes 1992; 41: 1207-1219.
18. Backeljauw PF, Alves C, Eidson M. et al. Effect of intravenous insulin-like growth factor 1 in two patients with leprechaunism. Pediatr Res 1994; 36: 749-754.
19. Tokatli A, Özsoylu S, Özme S. Leprechaunism (Donohue's syndrome): a case report. Turk J Pediatr 1993; 35: 319-322.
20. Senior B, Gellis SS. The syndromes of total lipodystrophy and of partial lipodystrophy. Pediatrics 1964; 33: 593-612.
21. Szilagyi PG, Corsetti J, Callahan CM, McCormick K, Metlay LA. Pancreatic exocrine aplasia. clinical features of leprechaunism and abnormal gonadotropin regulation. Pediatr Pathol 1987; 7: 51-61.
22. David R, Goodman RM. Leprechaunism in 4 sibs: new pathologic and electron microscopic observations. Hum Hered 1977; 27: 172A.
23. Brisigotti M, Fabbretti G, Pesce F, et al. Congenital bilateral juvenile granulosa cell tumor of the ovary in leprechaunism: a case report. Pediatr Pathol 1993; 13: 549-588.
24. Ellis EN, Kemp SF, Frindik JP, Elders MJ. Glomerulopathy in a patient with Donohue syndrome (leprechaunism). Diabetes Care 1991; 14: 413-414.