Spontaneous Puberty In Girls With Early Diagnosis Of Turner Syndrome [puberdade Espontânea Em Meninas Com Diagnóstico Precoce De Síndrome De Turner]

Objective: To verify if the frequency of spontaneous pubertal development among girls with Turner syndrome (TS) diagnosed in infancy and childhood is greater than that of patients diagnosed later. Subjects and methods: Thirty three girls aged 13 years diagnosed at the same service. Results: Sixteen of 32 informative patients had signs of spontaneous puberty, a frequency greater than that of patients diagnosed later. In six patients, there was no progression of puberty; menarche occurred in six, and one became pregnant, but the fetus was a stillborn. Spontaneous puberty was absent in all cases with 45,X karyotype. Conclusions: The greater prevalence of spontaneous puberty in girls whose diagnosis was not based on pubertal delay suggests that, among those diagnosed later, there is a bias towards patients with hypogonadism. © ABE&M todos os direitos reservados.569653657Bondy, C.A., Turner syndrome study group. Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group (2007) J Clin Endocrinol Metab., 92 (1), pp. 10-25Reynaud, K., Cortvrindt, R., Verlinde, F., de Schepper, J., Bourgain, C., Smitz, J., Number of ovarian follicles in human fetuses with the 45, X karyotype (2004) Fertil Steril., 81 (4), pp. 1112-1119Conte, F.A., Grumbach, M.M., Kaplan, S.L., A diphasic pattern of gonadotropin secretion in patients with the syndrome of gonadal dysgenesis (1975) J Clin Endocrinol Metab., 40 (4), pp. 670-674Ropelato, M.G., Escobar, M.E., Gottlieb, S., Bergada, C., Gonadotropin secretion in prepubertal normal and agonadal children evaluated by ultrasensitive time-resolved immunofluorometric assays (1997) Horm Res., 48 (4), pp. 164-172Chrysis, D., Spiliotis, B.E., Stene, M., Cacciari, E., Davenport, M.L., Gonadotropin secretion in girls with Turner syndrome measured by an ultrasensitive immunochemiluminometric assay (2006) Horm Res., 65 (5), pp. 261-266Turner, H.H., A syndrome of infantilism, congenital webbed neck and cubitus valgus (1938) Endocrinology, 23, pp. 566-574Lippe, B., Westra, S.J., Boechat, M.I., Ovarian function in Turner syndrome: Recognizing the spectrum (1993) Basic and clinical approach to Turner syndrome, pp. 117-122. , In: Hibi I, Takano K, editors, Amsterdam, NL: Elsevier Science PublishersPrice, D.A., Albertsson-Wikland, K., Demography, auxology and response to recombinant human growth hormone treatment in girls with Turner's syndrome in the Kabi Pharmacia International growth study (1993) Acta Paediatr., 82 (s391), pp. 69-74Lippe, B., Turner syndrome (1996) Pediatric Endocrinology, pp. 387-422. , In: Sperling MA, editor, Philadelphia, USA: WB SaundersPasquino, A.M., Passeri, F., Pucarelli, I., Segni, M., Municchi, G., Italian's Study Group for Turner's syndrome. Spontaneous pubertal development in Turner's syndrome (1997) J Clin Endocrinol Metab., 82 (6), pp. 1810-1813Hjerrild, B.E., Mortensen, K.H., Gravholt, C.H., Turner syndrome and clinical treatment (2008) Br Med Bull., 86, pp. 77-93Hadnott, T.N., Gould, H.N., Gharib, A.M., Bondy, C.A., Outcomes of spontaneous and assisted pregnancies in Turner syndrome: The U.S. National Institutes of Health experience (2011) Fertil Steril., 95 (7), pp. 2251-2256Carvalho, A.B., Guerra Jr., G., Baptista, M.T.M., Marques-de-Faria, A.P., Lemos-Marini, S.H., Maciel-Guerra, A.T., Turner syndrome: A pediatric diagnosis frequently made by non-pediatricians (2010) J Pediatr (Rio J), 86 (2), pp. 121-125Sutton, E.J., McInerney-Leo, A., Bondy, C.A., Gollust, S.E., King, D., Biesecker, B., Turner syndrome: Four challenges across the lifespan (2005) Am J Med Genet A., 139 A (2), pp. 57-66Hagen, C.P., Main, K.M., Kjaergaard, S., Juul, A., FSH, LH, inhibin B and estradiol levels in Turner syndrome depend on age and karyotype: Longitudinal study of 70 Turner girls with or without spontaneous puberty (2010) Hum Reprod., 25 (12), pp. 3134-3141Fechner, P.Y., Davenport, M.L., Qualy, R.L., Ross, J.L., Gunther, D.F., Eugster, E.A., Differences in follicle-stimulating hormone secretion between 45, X monosomy Turner syndrome and 45, X/46, XX mosaicism are evident at an early age (2006) J Clin Endocrinol Metab., 91 (12), pp. 4896-4902Hook, E.B., Exclusion of chromosome mosaicism: Tables of 90 percent, 95 percent and 99 percent confidence limits and comments on use (1977) Am J Hum Genet., 29, pp. 94-97Massa, G., Verlinde, F., de Schepper, J., Thomas, M., Bourguignon, J.P., Craen, M., Trends in age at diagnosis of Turner syndrome (2005) Arch Dis Child, 90 (3), pp. 267-268Hagen, C.P., Aksglaede, L., Sørensen, K., Main, K.M., Boas, M., Cleemann, L., Serum levels of anti-Müllerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients (2012) J Clin Endocrinol Metab., 95 (11), pp. 5003-501

Clinical And Laboratory Profile Of Pediatric And Adolescent Patients With Type 1 Diabetes

Objective: To evaluate clinical and laboratory profiles of patients with type 1 diabetes mellitus in three public hospitals in São Paulo, Brazil, since type 1 diabetes mellitus is a chronic illness that occurs mainly in the pediatric age group in the Brazilian population. Methods: Cross-sectional study with patients followed up in reference centers in São José do Rio Preto (FAMERP), Campinas (UNICAMP) and São Paulo (Conjunto Hospitalar do Mandaqui). Data about gender, age, diabetes duration, daily insulin dose, number of daily insulin injections, and glycosylated hemoglobin (HbA1c) were analyzed. Results: Two hundred and thirty-nine patients (131 females) were evaluated; mean age was 13.1±4.7 years and mean diabetes duration was 6.6±4.2 years. Daily insulin doses ranged from 0.1 to 1.78 units/kg/day (0.88±0.28), and 180 (74.7%) patients had two daily injections. HbA 1c ranged from 4.6 to 17.9% (10.0±2.3%). Conclusions: Although the hospitals included in this study are excellence centers for the follow-up of patients with diabetes in three municipalities in the state of São Paulo, one of the most developed states in Brazil, blood glucose control evaluated according to HbA1c was not adequate. Findings confirm that, despite the efforts of all the professionals involved, great challenges still lie ahead. Copyright © 2009 by Sociedade Brasileira de Pediatria.856490494Karvonen, M., Viik-Kajander, M., Moltchanova, E., Libman, I., LaPorte, R., Tuomilehto, J., Incidence of childhood type 1 diabetes worldwide. Diabetes Mondiale (DiaMond) Project Group (2000) Diabetes Care, 23, pp. 1516-1526Hoey, H., Aanstoot, H.J., Chiarelli, F., Daneman, D., Danne, T., Dorchy, H., Good metabolic control is associated with better quality of life in 2,101 adolescents with type 1 diabetes (2001) Diabetes Care, 24, pp. 1923-1928Danne, T., Mortensen, H.B., Hougaard, P., Lynggaard, H., Aanstoot, H.J., Chiarelli, F., Persistent differences among centers over 3 years in glycemic control and hypoglycemia in a study of 3,805 children and adolescents with type 1 diabetes from the Hvidøre Study Group (2001) Diabetes Care, 24, pp. 1342-1347The effect of intensive treatment of diabetes on the development and progression of long-term complications in insulin-dependent diabetes mellitus. The Diabetes Control and Complications Trial Research Group. N Engl J Med. 1993;329:977-86Schmid, H., New options in insulin therapy (2007) J Pediatr (Rio J), 83, pp. S146-S154Effect of intensive diabetes treatment on the development and progression of long-term complications in adolescents with insulin-dependent diabetes mellitus: Diabetes Control and Complications Trial. Diabetes Control and Complications Trial Research Group. Group. J Pediatr. 1994;125:177-88Epidemiology of severe hypoglycemia in the diabetes control and complications trial. The DCCT Research Group (1991) Am J Med, 90, pp. 450-459Hypoglycemia in the Diabetes Control and Complications Trial. The Diabetes Control and Complications Trial Research Group (1997) Diabetes, 46, pp. 271-286Malerbi, D., Damiani, D., Rassi, N., Chacra, A.R., Niclewicz, E.D., Silva Filho, R., Posição de consenso da Sociedade Brasileira de Diabetes - Insulinoterapia intensiva e terapêutica com bombas de insulina. (2006) Arq Bras Endocrinol Metab, 50, pp. 125-135Rewers, M., Pihoker, C., Donaghue, K., Hanas, R., Swift, P., Klingensmith, G.J., Assessment and monitoring of glycemic control in children and adolescents with diabetes (2007) Pediatr Diabetes, 8, pp. 408-418Nathan, D.M., Cleary, P.A., Backlund, J.Y., Genuth, S.M., Lachin, J.M., Orchard, T.J., Intensive diabetes treatment and cardiovascular disease in patients with type 1 diabetes (2005) N Engl J Med, 353, pp. 2643-2653Mortensen, H.B., Robertson, K.J., Aanstoot, H.J., Danne, T., Holl, R.W., Hougaard, P., Insulin management and metabolic control of type 1 diabetes mellitus in childhood and adolescence in 18 countries. Hvidøre Study Group on Childhood Diabetes (1998) Diabet Med, 15, pp. 752-759Mendes, A.B., Fittipaldi, J.A., Neves, R.C., Chacra, A.R., Moreira Jr., E.D., Prevalence and correlates of inadequate glycaemic control: Results from a nationwide survey in 6,671 adults with diabetes in Brazil (2009) Acta Diabetol, , In pressEliaschewitz, F.G., Franco, D.R., Does brittle diabetes exist as a clinical entity? Arq Bras Endocrinol (2009) Metabol, 53, pp. 466-469Akbaş, S., Karabekiroǧlu, K., Ozgen, T., Tasdemir, G., Karakurt, M., Senses, A., Association between emotional and behavioral problems and metabolic control in children and adolescents with Type 1 diabetes (2009) J Endocrinol Invest, 32, pp. 325-329Grossi, S.A., Lottenberg, S.A., Lottenberg, A.M., Della Manna, T., Kuperman, H., Home blood glucose monitoring in type 1 diabetes mellitus (2009) Rev Lat Am Enfermagem, 17, pp. 194-200Crasto, W., Jarvis, J., Khunti, K., Davies, M.J., New insulins and new insulin regimens: A review of their role in improving glycaemic control in patients with diabetes (2009) Postgrad Med J, 85, pp. 257-26

Frequency Of 677c → T And 1298a → C Polymorphisms In The 5,10-methylenetetrahydrofolate Reductase (mthfr) Gene In Turner Syndrome Individuals

Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this syndrome. We determined the frequencies of MTHFR 677C → T and 1298A → C polymorphic mutations in 49 patients with TS and 200 control individuals. The frequency of the 677C → T allele was 0.39 for patients and 0.29 for controls while that of the 1298A → C allele was 0.28 for patients and 0.25 for controls. Genotype frequencies were shown to be different in patients and controls (χ2 = 12.143; p = 0.033), and this was attributable to the higher frequency of the C677C → T/677C → T genotype among TS patients. In homozygotes, this mutation might have an effect on somatic chromosome disjunction by decreasing MTHFR activity. Copyright by the Brazilian of Genetics.2914144Beiguelman, B., As cromossomopatias autossômicas (1982) Citogenética Humana, pp. 179-218. , Guanabara Koogan, Rio de JaneiroChadefaux-Vekemans, B., Coude, M., Muller, F., Oury, J.F., Chabli, A., Jais, J., Kamoun, P., Methylenetetrahydrofolate reductase polymorphism in the etiology of Down syndrome (2002) Pediatr Res, 51, pp. 766-767Chiang, P.K., Gordon, R.K., Tal, J., Zeng, G.C., Doctor, B.P., Pardhasaradhi, K., MacAnn, P.P., S-adenosylmethionine and methylation (1996) FASEB J, 10, pp. 471-480Frosst, P., Blom, H.J., Milos, R., Goyette, P., Sheppard, C.A., Matthews, R.G., Boers, G.J., Rozen, R., A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase (1995) Nat Genet, 10, pp. 111-113Goyette, P., Summer, J.S., Milos, R., Duncan, A.M.V., Rosenblatt, D.S., Matthews, R.G., Rozen, R., Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification (1994) Nat Genet, 7, pp. 195-200Hassold, T., Chromosome abnormalities in human reproductive wastage (1986) Trends Genet, 2, pp. 105-110Hassold, J.T., Burrage, L.C., Chan, E., Judis, L.M., Chwartz, S., James, S.J., Jacobs, P.A., Thomas, N.S., Maternal folate polymorphisms and the etiology of human nondisjunction (2001) Am J Hum Genet, 69, pp. 434-439Held, K.R., Kerber, S., Kaminsky, E., Singh, S., Goetz, P., Seemanova, E., Goedde, H.W., Mosaicism in 45, X Turner syndrome: Does survival in early pregnancy depend on the presence of two sex chromosomes? (1992) Hum Genet, 29, pp. 94-97Hobbs, C.A., Sherman, S.L., Yi, P., Hopkins, S.E., Torts, C.P., Ne, R.J., Pogribna, M., Mes, S.J., Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome (2000) Am J Hum Genet, 67, pp. 623-630Hook, E.B., Warbuton, D., The distribution of chromosomal genotypes associated with Turner's syndrome, live birth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism (1983) Hum Genet, 64, pp. 24-27James, S.J., Pogribna, M., Pogubny, I.P., Melnyk, S., Hine, R.J., Gibson, J.B., Yi, P., Gaylor, D.W., Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase gene may be maternal risk factors for Down syndrome (1999) Am J Clin Nutr, 70, pp. 495-501Kelly, T.E., Ferguson, J.E., Golden, W., Survival of fetuses with 45, X: An instructive case and an hypothesis (1992) Am J Med Genet, 42, pp. 825-826Petersen, M.B., Grigoriadou, M., Mikkelsen, M., Polymorphisms in genes involved in folate metabolism are not maternal risk factors for Down syndrome (2001) Am J Hum Genet, 69 (2 SUPPL.), p. 141Robinson, A., Demography and prevalence of Turner syndrome (1990) Turner Syndrome, pp. 93-99. , Rosenfeld RG and Grumbach MM (eds) Basel & Dekker, New Yorkvan der Put, N.M.J., Gabreëls, F., Stevens, E.M., Smeitink, J.A., Trijbels, F.J., Eskes, T.K., Van Den Heuvel, L.P., Blom, H.J., A second common mutation in the methylene-tetrahydrofolate reductase gene: An additional risk for neural-tube defects? (1998) Am J Hum Genet, 62, pp. 1044-1051Weisberg, G.I., Tran, P., Christensen, B., Sibani, S., Rozen, R., A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity (1998) Mol Genet Metab, 64, pp. 169-172Woodhead, J.L., Fallon, R., Figuered, H., Longdale, J., Malcon, A.D.B., Alternative methodology of gene diagnosis (1986) Human Genetic Disease - A Pratical Approach, pp. 88-124. , Daves KE (ed) IRL Press Limited, Oxfor

21-hydroxylase Deficiency Transiently Mimicking Combined 21- And 11β-hydroxylase Deficiency

21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11βOHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 21OHD and 11βOHD (AC21,11OHD) have been occasionally reported. A 6 year-old girl, born with ambiguous genitalia and salt-loss, had serum elevations (ng/dl) of androstenedione (>1,000), 17-hydroxy-progesterone (170HP; 38,483), 21-deoxycortisol (21DF; 23,338), and 11-deoxycortisol (S; 4,928), suggesting AC21,11OHD. CYP21A and CYP11B1 genotyping identified mutations only in the former. On follow-up, serum S became normal but 170HP and 21DF were still elevated. ACTH stimulation disclosed elevated levels of 170HP and 21DF, but unresponsive S and undetectable deoxycorticosterone. The hormonal pattern initially suggested AC21,11OHD), but subsequent normalization of S showed transient 11-hydroxylase inhibition. This may have or curred by enzyme or co-enzyme immaturity or functional discrepancy, but also by selective inhibition of 11β-OH by excess intra-adrenal concentration of androgens, acting as pseudo-substrates for this enzyme. © Freund Publishing House Ltd., London.215487494Holcombe, J.H., Keenan, B.S., Nichols, B.L., Kirkland, R.T., Clayton, G.W., Neonatal salt loss in the hypertensive form of congenital adrenal hyperplasia (1980) Pediatrics, 65, pp. 777-780Zachmann, M., Tassinari, D., Prader, A., Clinical and biochemical variability of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. A study of 25 patients (1983) J Clin Endocrinol Metabol, 56, pp. 222-229Fiet, J., Boudi, A., Giton, F., Villette, J.M., Boudou, P., Soliman, H., Morineau, G., Galons, H., Plasma 21-deoxycortisol: Comparison of a time-resolved flubro-immunoassay using a biotinylated tracer with a radio-immunoassay using 125-iodine (2000) J Steroid Biochem Mol Biol, 72, pp. 55-60Gandy, H.M., Keutmann, E.H., Izzo, A.J., Characterization of urinary steroids in adrenal hyperplasia: Isolation of metabolites of cortisol, compound S, and deoxycorticosterone from a normotensive patient with adrenogenital syndrome (1960) J Clin Invest, 39, pp. 364-377Maschler, I., Weidenfeld, J., Muller, A., Slavin, S., Shaefer, J., Chovers, J., Finkelstein, M., A case of adrenogenital syndrome with aberrant 11β-hydroxylation (1977) Acta Endocrinol (Copenh), 85, pp. 832-830Fukushima, D.K., Nishina, T., Wu, R.H.K., Hellman, L., Finkelstein, J.W., Rapid assay of plasma 21-deoxy-cortisol and 11-deoxycortisol in congenital adrenal hyperplasia (1979) Clin Endocrinol, 10, pp. 367-375Kolanowski, J., Crabbe, J., Defective 11β-hydroxylation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (1981) Ann Endocrinol (Paris), 42, pp. 537-538Finkelstein, M., Litvin, Y., Mizrachi, Y., Neiman, G., Rosler, A., Apparent double defect in C11β- and C21-steroid hydroxylation in congenital adrenal hyperplasia (1983) J Steroid Biochem, 19, pp. 675-681Hurwitz, A., Brautbar, C., Milwidsky, A., Vecsei, P., Milewitz, A., Navot, D., Rosler, A., Combined 21- and 11β-hydroxylase deficiency in familial congenital adrenal hyperplasia (1985) J Clin Endocrinol Metabol, 60, pp. 631-637Penny, R., Vecsei, P., Congenital adrenal hyperplasia due to combined 21- and 11β-hydroxylase deficiency (1989) J Endocrinol Invest, 12, pp. 723-728Gillis, D., Speiser, P., Zhou, Z., Rolsler, A., Combined 21-hydroxylase and 11β-hydroxylaoe deficiency: Patient report and molecular basis (2000) J Pediatr Endocrinol Metab, 13, pp. 945-949Fernandes, V.T., Ribeiro-Neto, L.M., Vieira, J.G.H., Verreschi, I.T.N., Fiet, J., Kater, C.E., Radioimmunoassay for serum 21-deoxycortisol and its clinical application in congenital adrenal hyperplasia (2003) Arq Bras Endocrinol Metab, 47, pp. 171-176. , in PortugueseFernandes, V.T., Ribeiro-Neto, L.M., Lima, S.B., Vieira, J.G.H., Verreschi, I.T.N., Kater, C.E., Reversed-phase high-performance liquid chromatography separation of adrenal steroids prior to radioimmunoassay: Application in congenital adrenal hyperplasia (2003) J Chromatog Sci, 41, pp. 251-254Paulino, L.C., Araujo, M., Guerra Jr, G., Marini, S.H., De Mello, M.P., Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency (1999) Acta Paediatr, 88, pp. 275-283Wilson, R.C., Wei, J.Q., Cheng, K.C., Mercado, A.B., New, M.I., Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene (1995) J Clin Endocrinol Metab, 80, pp. 1635-1640De Carvalho, C.E., Castro, M., Moreira, A.C., de Mello, M.P., CYP11B1 intragenic polymorphisms give evidence for a different Q356X allele in an Afican-Brazilian patient (1999) J Endocr Genet, 1, pp. 79-86White, P.C., Speiser, P.W., Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2000) Endocr Rev, 21, pp. 245-291Carroll, M.C., Palsdottir, A., Belt, K.T., Porter, R.R., Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region (1985) EMBO J, 4, pp. 2547-2552Donohoue, P.A., Van Dop, C., McLean, R.H., White, P.C., Jospe, N., Migeon, C.J., Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein (1986) J Clin Endocrinol Metab, 62, pp. 995-1002Grischuk, Y., Rubtsov, P., Riepe, F.G., Grötzinger, J., Beljelarskaia, S., Prasgolov, V., Kalintchenko, N., Krone, N., Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: Identification, functional characterization, and structural analysis (2006) J Clin Endocrinol Metab, 91, pp. 4976-4980Tonetto-Fernandes, V., Lemos-Marini, S.H.V., Kuperman, H., Ribeiro-Neto, L.M., Verreschi, I.T.N., Kater, C.E., Serum 21-deoxycortisol, 17-hydroxyprogesteione, and 11-deoxycortisol in classic congenital adrenal hyperplasia: Clinical and hormonal correlations and identification of patients with 11β-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency (2006) J Clin Endocrinol Metab, 91, pp. 2179-2184Fukami, M., Hasegawa, T., Horikawa, I., Ohashi, T., Nishimura, G., Homma, K., Ogata, T., Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: Diagnostic value of urine steroid hormone analysis (2006) Pediatr Res, 59, pp. 276-280Flück, C.E., Tajima, T., Pandey, A.V., Arlt, W., Okuhara, K., Verge, C.F., Jabs, E.W., Miller, W.L., Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome (2004) Nat Genet, 36, pp. 228-230Arlt, W., Walker, E.A., Draper, N., Ivison, H.E., Ride, J.P., Hammer, F., Chalder, S.M., Schackleton, C.H., Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: Analytical study (2004) Lancet, 363, pp. 2128-2135Dall'Asta, C., Barbetta, L., Lib, Passini, E., Ambrosi, B., Coexistence of 21-hydroxylase and 11β-hydroxylase deficiency in adrenal incidentalomas. and in subclinical Cushing's syndrome (2002) Horm Res, 57, pp. 192-196Hornsby, P.J., Regulation of 21-hydroxylase activity by steroids in cultured bovine adrenocortical cells: Possible significance for adrenocortical androgen synthesis (1982) Endocrinology, 111, pp. 1092-1101Kater, C.E., Czepielewski, M.A., Biglieri, E.G., Androgen-and estrogen-producing adrenocortical tumors causing hypertension (1990) Endocrine Hypertension, pp. 195-206. , Biglieri EG, ed, New York: Raven PressKater, C.E., Tonetto-Fernandes, V.F., Ribeiro-Neto, L.M., Lemos-Marini, S., Kuperman, H., Partial inhibition of 11β-hydroxylation in the classic 21-hydroxylase deficiency form of congenital adrenal hyperplasia (2004) 86th Annual Meeting of The Endocrine Society, 272. , Abst P 1-476Namiki, M., Koh, E., Meguro, N., Kondoh, N., Kiyohara, H., Okuyama, A., Sakoda, S., Sonoda, T., Extraadrenal expression of steroid 21-hydroxylase and 11β-hydroxylase by a benign testicular Leydig cell tumor (1991) J Steroid Biochem Mol Biol, 39, pp. 897-90

Growth And Body Composition In Children With Type 1 Diabetes Mellitus [crescimento E Composição Corporal De Crianças Com Diabetes Mellitus Tipo 1]

Objective: To evaluate the growth and body composition of pre-pubertal diabetic children, and to check for influence of the age of diabetes onset and length, sex, insulin requirement and glycosylated hemoglobin. Patients and methods: 59 diabetic children (39 M; 29 F), age 1.2-11.5 years, and 67 controls (36 M; 31 F), age 1.2-11.7 years were included. Weight, height, body mass index (BMI), arm circumference, skin folds, fat mass and muscle areas were evaluated and transformed into standard deviation scores (SDS). Results: Among the diabetic children the mean height SDS was -0.13 (± 0.97) while in the control group it was 0.28 (± 0.86) (p= 0.013). The difference between the first and the current height SDS showed that the height SDS decreased significantly (p< 0.001) and multiple regression analysis indicated correlation with the duration of the disease. The mean arm fat SDS also revealed difference (p< 0.001). The means for weight, BMI, addition of 3 skinfolds and muscle mass did not demonstrate difference between the groups. Conclusions: The diabetic children showed reduction of height SDS during the period studied and they were significantly shorter than the controls, even though their statures were within the population standards. The arm fat area also showed to be increased in relation with the controls.503490498Manna, T.D., Damiani, D., Dichtchekenian, V., Setian, N., Diabetes Mellitus na Infância e na Adolescência (2004) Endocinologia Pediátrica, 2a Ed., pp. 195-241. , Setian N, editora. São Paulo: SarvierSilva Jr., G.R., Fuks, A.G., Cunha, E.F., Clemente, E.L.S., Gomes, M.B., Inter-relação de variáveis demográficas, terapêutica insulínica e controle glicêmico em pacientes com diabetes mellitus do tipo 1 atendidos em um hospital universitário (1999) Arq Bras Endocrinol Metab, 43, pp. 114-120Ferreira, S.R.G., Franco, L.J., Vivolo, M.A., Negrato, C.A., Simões, A.C.P., Ventureli, C.R., Population based incidence of IDDM in the state of São Paulo, Brazil (1993) Diabetes Care, 16, pp. 701-704Maia, F.F.R., Araújo, L.R., Síndrome de Mauriac: Forma rara do diabetes mellitus tipo 1 (2002) Arq Bras Endocrinol Metab, 46, pp. 310-315Herber, S.M., Dunsmore, I.R., Does control affect growth in diabetes mellitus? (1988) Acta Paediatr Scand, 77, pp. 303-305Cunha, E.F., Silva Jr., G.R., Clemente, E.L.S., Gomes, M.B., Crescimento de crianças diabéticas em controle ambulatorial em hospital universitário (1999) Arq Bras Endocrinol Metab, 43, pp. 344-350Dunger, D.B., Edge, J.E., Ahmed, M.L., Diabetes mellitus and growth (1995) Curr Opin Endocrinol Diab, 2, pp. 97-104Rodrigues, T.M.B., Silva, I.N., Estatura final de pacientes com Diabetes Mellitus tipo 1 (2001) Arq Bras Endocrinol Metab, 45, pp. 108-114Dunger, D., Ahmed, L., Ong, K., Growth and body composition in type 1 Diabetes Mellitus (2002) Horm Res, 58, pp. 66-71Clinical Pratice Recomendation 2003 (2003) Diabetes Care, 26, pp. S5-20(2004) A Importância Da HbGli (A1c) para a Avaliação Do Controle Glicêmico Em Pacientes Com Diabetes Mellitus: Aspectos Clínicos e Laboratoriais, , Posicionamento Oficial das Sociedades Brasileiras de Endocrinologia e Metabologia, de Patologia Clínica, de Diabetes, da Associaçã o Latino-Americana de Diabetes e da Federação Nacional das Associações e Entidades de Diabetes, São PauloLohman, T.G., Roche, A.F., Martorell, R., (1988) Anthropometric Standardization Reference Manual, , Illinois: Human Kinetics BooksFrisancho, A.R., (1993) Anthropometric Standards for the Assessment of Growth and Nutritional Status, , Michigan: University of Michigan PressKuczmarski, R.J., Ogden, C.L., Grummer-Strawn, L.M., Flegal, K.M., Mei, Z., Guo, S., CDC growth charts: United States (2000) Adv Data, 8, pp. 1-27Ogden, C.L., Kuczmarski, R.J., Flegal, K.M., Mei, Z., Guo, S., Wei, R., Centers for Disease Control and Prevention 2000 growth charts for the United States: Improvements to the 1977 National Center for Health Statistics version (2002) Pediatrics, 109, pp. 45-60Goran, M.I., Kaskoun, M.C., Carpenter, W.H., Poehlman, E.T., Ravussin, E., Fontvieille, A.M., Estimating body composition of young children by using bioeletrical resistance (1993) J Appl Physiol, 75, pp. 1776-1780Fomon, S., Hanschke, F., Ziegler, E., Nelson, B., Body composition of reference children from birth to age 10 years (1982) Am J Nutr, 35, pp. 1169-1175Danne, T., Kordonouri, O., Enders, I., Weber, B., Factors influencing height and weight development in children with diabetes - Results of the Berlin retinopathy study (1997) Diabetes Care, 20, pp. 281-285Petersen, H.D., Korsgaard, B., Deckert, T., Nielsen, E., Growth, body weight and insulin requirement in diabetic children (1978) Acta Paediatr Scand, 67, pp. 453-457Thon, A., Heinze, E., Feilen, K.D., Holl, R.W., Schmidt, H., Koletzko, S., Development of height and weight in children with diabetes mellitus: Report on two prospective multicentre studies, one cross-sectional, one longitudinal (1992) Eur J Pediatr, 151, pp. 258-262Malone, J.I., Growth and sexual maturation in children with insulin-dependent diabetes mellitus (1993) Curr Opin Pediatr, 5, pp. 494-498Ozuna, B., Aruza, A., Belgorosky, A., Mazza, C., Estudio del crecimiento en niños com diabetes insulino dependente. Efectos del control metabólico (1995) Med Infant, 2, p. 147Sepúlveda, Z.N., Jaime Perez, C., Iris Mella, G., Crecimiento en niños con diabetes mellitus insulino-dependente (1997) Rev Chil Pediatr, 68, pp. 61-65The effect of intensive treatment of diabetes on the development and progression of long-term complications in insulin-dependent diabetes mellitus (1993) N Engl J Med, 329, pp. 977-986Pitukcheewanont, P., Alemzadeh, R., Jacobs, W.R., Jones, B.H., Eberle, A.J., Does glycemic control affect growth velocity in children with insulin-dependent diabetes mellitus (1995) Acta Diabetol, 32, pp. 148-152Salerno, M.C., Argenziano, A., Di Maio, S., Gasparini, N., Formicola, S., De Fellipo, G., Puberal growth, sexual maturation, and final height in children with IDDM (1997) Diabetes Care, 20, pp. 721-723Bognetti, E., Riva, M.C., Bonfanti, R., Meschi, F., Viscardi, M., Chiumello, G., Growth changes in children and adolescents with short-term diabetes (1998) Diabetes Care, 21, pp. 1226-1229Lebl, J., Schober, E., Zidek, T., Baldis, S., Rami, B., Pruhova, S., Growth data in large series of 587 children and adolescents with type 1 diabetes mellitus (2003) Endocr Regul, 37, pp. 153-161Meira, S.O., Morcillo, A.M., Lemos-Marini, S.H.V., Paulino, M.F.V.M., Minicucci, W.J., Guerra Jr., G., Crescimento puberal e altura final em 40 pacientes com diabetes mellitus tipo 1 (2005) Arq Bras Endocrinol Metab, 49, pp. 396-402Brown, M., Ahmed, M.L., Clayton, K.L., Dunger, D.B., Growth during childhood and final height in type 1 diabetes (1994) Diabetic Medicine, 11, pp. 182-187Zachrisson, I., Brismar, K., Hall, K., Wallensteen, M., Dahlqvist, G., Determinants of growth in diabetic pubertal subjects (1997) Diabetes Care, 20, pp. 1261-1265Scheffer-Marinus, P.D., Links, T.P., Reitsma, W.D., Drayer, N.M., Increased height in diabetes mellitus corresponds to the predicted and the adult height (1999) Acta Paediatr, 88, pp. 384-388Castro, J.C., Goulart, E.M.A., Camargos, A.F., Chagas, A.J., Avaliação antropométrica e bioquímica de crianças e adolescentes com diabetes do tipo 1 comparados a um grupo de não diabéticos de mesmo nível sócioeconômico (2000) Arq Bras Endocrinol Metab, 44, pp. 502-508Tattersall, R.B., Pyke, D.A., Growth in diabetic children: Studies in identical twins (1973) Lancet, 17, pp. 1105-1109Pietilläinen, K.H., Virtanen, S.M., Rissanen, A., Rita, H., Mäenpää, A., Diet, obesity, and metabolic control in girls with insulin dependent diabetes mellitus (1995) Arch Dis Child, 73, pp. 398-402Du Caju, M.V.L., Rooman, R.P., Beeck, L.O., Longitudinal data on growth and final height in diabetic children (1995) Pediatr Res, 38, pp. 607-611Ferrante, E., Pitzalis, G., Vania, A., Angelis, P., Guidi, R., Fontana, L., Stato nutrizionale, obesità ed equilibrio metabolico in soggetti in età evolutiva affeti da diabete mellito di tipo 1 (1999) Minerva Pediatr, 51, pp. 39-46Ingberg, C.M., Sarnblad, S., Palmer, M., Schvarez, E., Berne, C., Amont, T., Body composition in adolescent girls with type 1 diabetes. 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Prevalence And Clinical Aspects When It Comes To The Association Between Type 1 Diabetes Mellitus (dm1) And Celiac Disease [prevalência E Aspectos Clínicos Da Associação De Diabetes Melito Tipo 1 E Doença Celíaca]

Objectives: To estimate the prevalence of type 1 diabetes mellitus (DM1) and celiac disease association and to verify the existence of celiac disease symptoms, as well as the occurrence of other autoimmune diseases among the patients, their first-degree relatives and the possible influences of celiac disease in diabetes control. Methods: It was done a cross-sectional study with 195 patients that answered a questionnaire about gastrointestinal symptoms and the occurrence of autoimmune diseases in their first-degree relatives. IgA was measured and antiendomysial antibody (EMA) was screened. The patients with positive EMA were submitted to intestinal biopsy. Those with celiac disease confirmed by biopsy (case group) were paired with DM1 patients without celiac disease (control group) according to age on diabetes diagnosis, diabetes duration and gender. Results: EMA was positive in nine patients. In seven of them the biopsy has confirmed celiac disease (4.0%). Comparing the cases with controls, the gastrointestinal symptoms were significantly more frequent in the first group, but there was no difference between the groups regarding to the occurrence of autoimmune disease among the first-degree relatives and regarding to the control of diabetes (z weight, z height, insulin dose, HbA1c). Conclusions: The prevalence found was 4.0%. This sample of celiac patients showed a predominance of gastrointestinal symptoms, although the celiac disease did not influence the diabetes control. copyright© ABE&M.524635641Sperling, M.A., Diabetes mellitus (2002) Pediatric endocrinology, pp. 323-326. , Sperling MA, editor, 2a ed. Philadelphia: Saunders;Schober, E., Rami, B., Granditsch, G., Crone, J., Coeliac disease in children and adolescents with type 1 diabetes mellitus: To screen or not, to treat or not? (2002) Horm Res, 57 (SUPPL. 1), pp. 97-100Hill, I.D., Bhatnagar, S., Cameron, D.J., De Rosa, S., Mäki, M., Russell, G.J., Celiac disease: Working group report of the first world congress of Pediatric Gastroenterology, Hepatology and Nutrition (2002) J Pediatr Gastroenterol Nutr, 35 (SUPPL. 2), pp. S78-S88Mäki, M., Mustalahti, K., Kokkonen, J., Kulmala, P., Haapalahti, M., Karttunen, T., Prevalence of celiac disease among children in Finland (2003) N Engl J Med, 348 (25), pp. 2517-2524Collin, P., Kaukinen, K., Välimäki, M., Salmi, J., Endocrinological disorders and celiac disease (2002) Endocr Rev, 23 (4), pp. 464-483Baptista, M.L., Koda, Y.K., Mitsunori, R., Nisihara, Ioshii, S.O., Prevalence of celiac disease in Brazilian children and adolescents with type 1 diabetes mellitus (2005) J Pediatr Gastroenterol Nutr, 41 (5), pp. 621-624Tanure, M.G., Silva, I.N., Bahia, M., Penna, F.J., Prevalence of celiac disease in Brazilian children with type 1 diabetes mellitus (2006) J Pediatr Gastroenterol Nutr, 42 (2), pp. 155-159Araújo, J., Silva, G.A., Melo, F.M., Serum prevalence of celiac disease in children and adolescents with type 1 diabetes mellitus (2006) J Pediatr (Rio J), 82 (3), pp. 210-214Brandt, K.G., Silva, G.A., Antunes, M.M., Celiac disease in a group of children and adolescents with type 1 diabetes mellitus (2004) Arq Bras Endocrinol Metab, 48 (6), pp. 823-827Holmes, G.K., Non-malignant complications of coeliac disease (1996) Acta Paediatr, 412 (SUPPL.), pp. 68-75Marsh, M.N., Gluten, major histocompatibility complex, and the small intestine: A molecular and immunobiologic approach to the spectrum of gluten sensitivity ("celiac sprue") (1992) Gastroenterology, 102, pp. 330-354Collin, P., Kaukinen, K., Vogelsang, H., Korponay-Szabó, I., Sommer, R., Schreier, E., Antiendomysial and antihuman recombinant tissue transglutaminase antibodies in the diagnosis of coeliac disease: A biopsy-proven European multicentre study (2005) Eur J Gastroenterol Hepatol, 17, pp. 85-91Hill, I.D., Dirks, M.H., Liptak, G.S., Colletti, R.B., Fasano, A., Guandalini, S., Guideline for the diagnosis and treatment of coeliac disease in children: Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition (2005) J Pediatr Gastroenterol Nutr, 40, pp. 1-9Barera, G., Bonfanti, R., Viscardi, M., Bazzigaluppi, E., Calori, G., Meschi, F., Occurrence of celiac disease after onset of type 1 diabetes mellitus: A 6-year prospective longitudinal study (2002) Pediatrics, 109 (5), pp. 833-838Aktay, A.N., Lee, P.C., Kumar, V., Parton, E., Wyatt, D.T., Werlin, S.L., The prevalence and clinical characteristics of celiac disease in juvenile diabetes in Wisconsin (2001) J Pediatr Gastroenterol Nutr, 33 (4), pp. 462-465Poulain, C., Johanet, C., Delcroix, C., Lévy-Marchal, C., Tubiana-Rufi, N., Prevalence and clinical features of celiac disease in 950 children with type 1 diabetes in France (2007) Diabetes Metab, 33, pp. 453-458Bytzer, P., Talley, N.J., Hammer, J., Young, L.J., Jones, M.P., Horowitz, M., GI symptoms in diabetes mellitus are associated with both poor glycemic control and diabetic complications (2002) Am J Gastroenterol, 97 (3), pp. 604-611El-Salhy, M., The possible role of the gut neuroendocrine system in diabetes gastroenteropathy (2002) Histol Histopathol, 17 (4), pp. 1153-1161Barera, G., Bianchi, C., Cerutti, F., Dammacco, F., Frezza, E., Illeni, M.T., Screening of diabetic children for coeliac disease with antigliadin antibodies and HLA typing (1991) Arch Dis Child, 66 (4), pp. 491-494Kaspers, S., Kordonouri, O., Schober, E., Grabert, M., Hauffa, B.P., Holl, R.W., German Working Group for Pediatric Diabetology. Anthropometry, metabolic control, and thyroid autoimmunity in type 1 diabetes with celiac disease: A multicenter survey (2004) J Pediatr, 145 (6), pp. 790-795Crone, J., Rami, B., Huber, W.D., Granditsch, G., Schober, E., Prevalence of celiac disease and follow-up of EMA in children and adolescents with type 1 diabetes mellitus (2003) J Pediatr Gastroenterol Nutr, 37 (1), pp. 67-71Mohn, A., Cerruto, M., Iafusco, D., Prisco, F., Tumini, S., Stoppoloni, O., Celiac disease in children and adolescents with type 1 diabetes: Importance of hypoglycemic (2001) J Pediatr Gastroenterol Nutr, 32 (1), pp. 37-40Medina, Y.N., López-Capapé, M., Orejas, E.L., Blanco, M.A., Salces, C.C., Castellanos, R.B., Impacto del diagnóstico de la enfermedad celíaca en el control metabólico de la diabetes tipo 1. (2008) An Pediatr (Barc), 68, pp. 13-17Hanukoglu, A., Mizrachi, A., Dalal, I., Admoni, O., Rakover, Y., Bistritzer, Z., Extrapancreatic autoimmune manifestations in type 1 diabetes patients and their first-degree relatives: A multicenter study (2003) Diabetes Care, 26 (4), pp. 1235-1240Toscano, V., Conti, F.G., Anastasi, E., Mariani, P., Tiberti, C., Poggi, M., Importance of gluten in the induction of endocrine autoantibodies and organ dysfunction in adolescents celiac patients (2000) Am J Gastroenterol, 95 (7), pp. 1742-1748Jaeger, C., Hatziagelaki, E., Petzoldt, R., Bretzel, R.G., Comparative analysis of organ-specific autoantibodies and celiac disease-associated antibodies in type 1 diabetic patients, their first-degree relatives, and healthy control subjects (2001) Diabetes Care, 24 (1), pp. 27-32Cerutti, F., Bruno, G., Chiarelli, F., Lorini, R., Meschi, F., Sacchetti, C., Younger age at onset and sex predict celiac disease in children and adolescents with type 1 diabetes mellitus: An Italian multicentre study (2004) Diabetes Care, 27, pp. 1294-1298Schwarzenberg, S.J., Brunzell, C., Type 1 diabetes and celiac disease: An overview and medical nutrition therapy (2002) Diabetes Spect, 15, pp. 197-20