Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome

Hormone Research

Volumn 50, Issue 2, 1998, Pages 99-104

  Artuch, Rafael ^a,e   Pavía, Carlos ^a   Playán, Ana ^d   Vilaseca, Maria Antònia ^a   Colomer, Jaume ^a   Valls, Carme ^a   Rissech, Miquel ^a   González, María Antonia ^a   Pou, Adolf ^b   Briones, Paz ^c   Montoya, Julio ^b   Pineda, Mercé ^a  

^a HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^b HOSPITAL DEL MAR   (Spain)

^c Institut de Bioquimica Clinica Barcelona   (Spain)

^d UNIVERSITY OF ZARAGOZA   (Spain)

^e HOSPITAL SANT JOAN DE DÉU   (Spain)

Author keywords

Endocrine dysfunction; Kearns sayre syndrome; Mitochondrial diseases

Indexed keywords

CORTICOTROPIN; FOLLITROPIN; GLUCOSE; GLYCOSYLATED HEMOGLOBIN; HYDROCORTISONE; INSULIN; LUTEINIZING HORMONE; MITOCHONDRIAL DNA; PARATHYROID HORMONE;

ADOLESCENT; ADRENAL INSUFFICIENCY; ARTICLE; CASE REPORT; CORTICOTROPIN BLOOD LEVEL; DIABETES MELLITUS; ENDOCRINE DISEASE; FOLLITROPIN BLOOD LEVEL; GENE DELETION; GLUCOSE BLOOD LEVEL; HUMAN; HYDROCORTISONE BLOOD LEVEL; INSULIN TREATMENT; KEARNS SAYRE SYNDROME; LUTEINIZING HORMONE BLOOD LEVEL; MALE; PANCREAS FUNCTION; PARATHYROID HORMONE BLOOD LEVEL; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN DISEASE; SOUTHERN BLOTTING;

ADOLESCENT; ADRENOCORTICOTROPIC HORMONE; BLOOD GLUCOSE; BLOTTING, SOUTHERN; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; ENDOCRINE SYSTEM DISEASES; FOLLICLE STIMULATING HORMONE; GENE DELETION; HEMOGLOBIN A, GLYCOSYLATED; HUMANS; HYDROCORTISONE; KEARNS-SAYER SYNDROME; LUTEINIZING HORMONE; MALE; POLYMERASE CHAIN REACTION; SKIN DISEASES;

EID: 0031656184     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000023243     Document Type: Article

References (19)

1. Shoffner JM, Douglas C, Wallace C: Oxidative phosphorylation diseases; in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Bases of Inherited Disease. New York, McGraw-Hill, 1995, vol 1, pp 1535-1609.
2. Tulinius MH, Oldfors A, Holme E, Larsson NG, Houshmand M, Fahleson P, Sigström L, Kristiansson B: Atypical presentation of multi-system disorders in two girls with mitochondrial DNA deletions. Eur J Pediatr 1995;154: 35-42.
3. Wilichowski E, Grüters A, Kruse K, Rating D, Beetz R, Korenke GC, Ernst BP, Christen HJ, Hanefeld F: Hypoparathyroidism and deafness associated with pleioplasmic large-scale rearrangements of the mitochondrial DNA: A clinical and molecular genetic study of four children with Kearns-Sayre syndrome. Pediatr Res 1997;41:193-200.
4. Rötig A, Bessis JL, Romero N, Cormier V, Saudubray JM, Narcy P, Lenoir G, Rustin P, Munnich A: Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia. Am J Hum Genet 1992;50:364-370.
5. Mori K, Narahara K, Ninomiya S, Goto Y, Nonaka I: Renal and skin involvement in a patient with complete Kearns-Sayre syndrome. Am J Med Genet 1991;38:583-587.
6. Harvey JN, Barnett D: Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol 1992;37:97-104.
7. Ohno K, Yamamoto M, Engel A, Harper M, Roberts LR, Tan GH, Fatourechi V: Melas-and Kearns-Sayre-type commutation with myopathy and autoimmune polyendocrinopathy. Ann Neurol 1996;39:761-766.
8. Abramowicz MJ, Cochaux P, Cohen LHF, Vamos E: Pernicious anaemia and hypoparathyroidism in a patient with Kearns-Sayre syndrome with mitochondrial DNA duplication. J Inherit Metab Dis 1996;19:109-111.
9. Artuch R, Vilaseca MA, Farré C, Ramón F: Determination of lactate, pyruvate, β-hydroxybutyrate and acetoacetate with a centrifugal analyser. Eur J Clin Chem Clin Biochem 1995; 33:529-533.
10. Artuch R, Pineda M, Vilaseca MA, Briones P, Ribes A, Colomer J, Vernet A, Campistol J: Deficiencias de la cadena respiratoria y del metabolismo del piruvato en pacientes pediátricos: Evaluación de las pruebas bioquímicas de selección. Rev Neurol 1998;26:38-42.
11. Rustin P, Chretien D, Bourgeron T, Gerard B, Rôtig A, Munnich A, Saudubray JM: Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 1994;228: 35-51.
12. Briones P, Vilaseca MA, Ribes A, Vernet A, Lluch M, Cusí V, Huckriede A, Agsteribbe E: A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat-shock protein 60. J Inherit Metab Dis 1997;20: 569-577.
13. Babson AL: The Immulite automated immunoassay system. J Clin Immunoassay 1991;14: 83-88.
14. Rey del Castillo C, Martin G, Gonzalez I, Calvo R, Olombrada M, González M, Peralta A: Insuficiencia suprarenal asociada a encefalopatia mitocondrial. Rev Crecimiento 1980;4: 120-122.
15. Alcolado JC, Majid A, Brockington M, Sweeney MG, Morgan R, Rees A, Harding AE, Barnett AH: Mitochondrial gene defects in patients with NIDDM. Diabetologia 1994;37: 372-376.
16. leu(UUR) gene. Diabetologia 1994;38: 193-200.
17. Poulton J, Rahilly SO, Morten KJ, Clark A: Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome. Diabetologia 1995;38:868-871.
18. Suzuki Y, Taniyama M, Atsumi Y, Hosokawa K, Asahina T, Shimada A, Murata C, Matsuoka K: Body type in mitochondrial diabetes. Diabetologia 1997;40:987-989.
19. Voisin M, Marty-Double C, Grolleau R, Baissus C, Dumas R, Jean R: Syndrome de Kearns. Arch Fr Pédiatr 1980;37:119-121.