Evaluation of insulin resistance and lipid profile in turner syndrome

OBJECTIVE: To evaluate the presence of insulin resistance (IR) and changes in lipid profile in Turner Syndrome (TS), and to check the influence of age, karyotype, systemic arterial hypertension (SAH), height, weight, body mass index (BMI), and pubertal development. PATIENTS AND METHODS: A transversal study of 35 TS patients, confirmed with karyotype (5 to 43 years), without previous use of anabolic steroid or hGH, with evaluation of blood pressure, pubertal development, anthropometric data, measurement of waist (W), hip (H), W to H ratio, total cholesterol, HDL, triglycerides (TGC), LDL, insulin and glucose. HOMA and QUICKI indexes were calculated, as well as glucose to insulin ratio (G/I). Data were examined by the Mann-Whitney and Spearman tests. RESULTS: Ten patients were >20 years. Seventeen had a 45,X karyotype and 6 structural aberrations; differences of the variables in relation to the karyotypes were not observed; 15 were nonpubertal and 20 pubertal; TGC and HOMA were significantly higher in puberty, while G/I was lower. Seven had normal height, 8 had BMI >25Kg/m2 (6 between 25 and 30, and 2 >30), and 19 W/H >0.85. Cholesterol levels were 180 ± 42mg% (4 >240); HDL 57 ± 16mg%; LDL 99 ± 34mg%; TGC 108 ± 96mg% (2 >200); HOMA 1.01 ± 0.71; QUICKI 0.4 ± 0.04 and G/I 23.5 ± 12.1 (2 20 anos. O cariótipo 45,X ocorreu em 17, e 6 com aberrações estruturais; não houve diferenças das variáveis em relação aos cariótipos. Quinze eram impúberes e 20 púberes; os TGC e o HOMA foram significativamente maiores na puberdade, e a G/I menor. Sete com estatura normal, 8 com IMC >25Kg/m2 (6 entre 25 e 30, e 2 >30), 19 com C/Q >0,85. O colesterol foi de 180 ± 42mg% (4 >240); o HDL de 57 ± 16mg%; o LDL de 99 ± 34mg%; os TGC de 108 ± 96mg% (2 >200); o HOMA de 1,01 ± 0,71; o QUICKI de 0,4 ± 0,04 e a G/I de 23,5 ± 12,1 (2 <7,0). CONCLUSÕES: Observaram-se alterações no perfil lipídico independentemente de faixa etária, cariótipo, PA e obesidade, porém agravadas pela RI, que foi menos freqüente do que descrita na literatura, parecendo relacionada à idade cronológica, obesidade e reposição estrogênica.278285Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq

Normalization of height and excess body fat in children with salt-wasting 21-hydroxylase deficiency

OBJECTIVE: To evaluate growth and body composition of patients with the salt wasting form of classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and to compare them with healthy children. METHODS: Twenty-one prepubertal patients (eight boys and 13 girls) between 2.1 and 10.2 years and 67 prepubertal healthy controls (36 boys and 31 girls) between 1.2 and 11.7 years were included. Weight, height, upper-arm circumference, skinfolds, body composition determined by bioimpedance, and bone age were measured. The following data were obtained from the medical records: parents' height, serum levels of 17-hydroxyprogesterone and &#916;4-androstenedione, prescribed hydrocortisone doses, weight and length at birth, in the beginning of the treatment, and at 2 years. RESULTS: Patients had lower weight and length z scores at the first appointment compared with the same data at birth, showing recovery after the beginning of the treatment without advanced bone age. Mean height z score was higher in controls (0.28±0.86) than in patients (-0.61±0.99, p < 0.001); this difference disappeared when the patients' height was adjusted to their bone age (0.33±1.68, p = 0.912). Patients had higher body mass index (p < 0.001), fat mass (p < 0.001), and fat mass index (p < 0.001) than controls. There was no difference in the skinfolds between the two groups (p = 0.157). CONCLUSIONS: Patients had growth recovery with mean height similar to the general population; however, they had higher body fat, which seems to be visceral, since there was no difference between the skinfolds of both groups.OBJETIVO: Avaliar crescimento e composição corporal de portadores da forma clássica perdedora de sal da hiperplasia adrenal congênita por deficiência da 21-hidroxilase, comparando-os com crianças saudáveis. MÉTODOS: Foram incluídos 21 pacientes (oito meninos e 13 meninas), entre 2,1 e 10,2 anos, e 67 controles pré-púberes (36 meninos e 31 meninas), entre 1,2 e 11,7 anos. Avaliou-se peso, estatura, perímetro braquial, dobras cutâneas, composição corporal por bioimpedância e idade óssea. Foram obtidas dos prontuários dos pacientes as seguintes informações: estatura dos pais, valores de 17-OH progesterona e &#916;4-androstenediona, dose de hidrocortisona prescrita, dados de peso e estatura ao nascimento, no início do tratamento e aos 2 anos de idade. RESULTADOS: Os pacientes apresentaram menor escore z de peso e de altura na primeira consulta em relação à situação de nascimento, com posterior recuperação após o início do tratamento, sem apresentar avanço da idade óssea. A média do escore z da altura dos controles (0,28±0,86) foi maior que a dos casos (-0,61±0,99, p < 0,001). Essa diferença desaparece quando se ajusta a altura dos pacientes para a idade óssea (0,33±1,68, p = 0,912). Os pacientes apresentaram maiores índices de massa corporal (p < 0,001), massa gorda (p < 0,001) e índice de massa gorda (p < 0,001) do que os controles. Não houve diferença entre as dobras cutâneas dos 2 grupos (p = 0,157). CONCLUSÕES: Os pacientes apresentaram recuperação do crescimento com média de estatura semelhante à da população geral, porém com maior adiposidade corporal, que parece ser visceral, já que não houve diferença entre as dobras cutâneas.26326

Growth in patients with the salt-wasting form of congenital adrenal hyperplasia during the first two years of life

OBJECTIVES: to assess the growth and nutritional recovery of patients with the classical salt-wasting form of congenital adrenal hyperplasia in the first two years of life. METHODS: z scores for weight and height were calculated for 21 patients at birth, on the occasion of the first medical consultation and at one and two years of age. The concentrations of 17-hydroxyprogesterone, androstenedione and the doses of hydrocortisone prescribed at the first medical concentrations up to the age of two years were determined (at one and two years of age respectively). RESULTS: the mean age for the first medical consultation was 36.7 days. The z score for weight at birth was -0.23±1.4; on the occasion of the first consulta tion -2.31±1.3; at the age of one year -1.43±1.6 and at the age of two years -0.77± 1.3. The z score for height at birth was -0.69±2.3; on the occasion of the first consultation -1.87±1.7; at one year of age 1.68±1.1 and at two years -1.07±1.0. The difference between the scores at two years of age and on the occasion of the first medical consultation was 1.54±1.7 for weight and 0.80±1.6 for height. The mean dosage of hydrocortisone prescribed was 21.3 and 19.9 mg/m2/day for periods 1 and 2 and the concentrations (ng/dL) of 17-hydroxyprogesterone and androstenedione were 9.1 and 0.14 for period 1 and 4.4 and 0.27 for period 2. CONCLUSIONS: nutritional recovery was observed to occur on treatment and, at two years of age, weight and height are normal, although below the average for the population at large.OBJETIVOS: avaliar crescimento e recuperação nutricional de pacientes com hiperplasia congênita supra-renal, forma clássica perdedora de sal, nos dois primeiros anos de vida. MÉTODOS: analisamos escores z de peso e comprimento de 21 pacientes ao nascimento, primeira consulta, com um e dois anos de idade. Determinamos concentrações de 17-hidroxiprogesterona, androstenediona e doses de hidrocortisona prescritas da primeira consulta até um e dois anos de idade (períodos 1 e 2, respectivamente). RESULTADOS: a média de idade na primeira consulta foi 36,7 dias. Escore z do peso ao nascimento foi -0,23±1,4; na primeira consulta -2,31±1,3; com um ano -1,43±1,6 e dois anos -0,77± 1,3. Escore z do comprimento ao nascimento foi -0,69±2,3; na primeira consulta -1,87±1,7; com um ano -1,68±1,1 e dois anos -1,07±1,0. A diferença entre os escores aos dois anos e na primeira consulta foi 1,54±1,7 para o peso e 0,80±1,6 para o comprimento. Média de hidrocortisona prescrita foi 21,3 e 19,9 mg/m2/dia nos períodos 1 e 2 e concentrações (ng/dL) de 17-hidroxiprogesterona e androstenediona foram 9,1 e 0,14 no período 1 e 4,4 e 0,27 no 2, respectivamente. CONCLUSÕES: foram observados recuperação nutricional com o tratamento e, aos dois anos, peso e comprimento normais, embora inferiores aos da população.41542

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form: frequency evaluation of families with affected patients

OBJECTIVE: To analyze the frequency of affected patients, rate of parental consanguinity and clinical forms of the disease, according to sex in families with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, classic form (CAH-21-OHD-C). METHODS: 58 families with 79 patients (67 alive and 12 dead) with non-affected parents and at least one affected live patient with an established diagnosis of the disease by molecular analysis were studied. The frequency of affected siblings was evaluated according to Haldane and Hogben techniques by truncated selection. Data about parental consanguinity, frequency of CYP21A2 homozygosis gene mutation, clinical form of the disease and sex distribution were also evaluated. RESULTS: Ten families had parental history of consanguinity and other five had homozygosis in the molecular analysis. The frequency of affected children in the kindred was 23.5%, similar to the 25% expected, but the sample showed a heterogeneous distribution. Among the clinical forms, 56 (70%) patients had the salt wasting form (25 males and 31 females) and 23 (30%) the simple virilizing one (10 males and 13 females) without difference in sex distribution. CONCLUSIONS: These data confirm that CAH-21-OHD-C has an autosomal recessive monogenic inheritance, with a high rate of consanguinity, similar distribution in both sexes, but it has a heterogeneous distribution of cases among the kindred with predominance of the salt wasting form.OBJETIVOS: Analisar a freqüência de indivíduos afetados e das formas clínicas da doença, de acordo com o gênero e a taxa de consangüinidade, em famílias com hiperplasia adrenal congênita (HAC) por deficiência da enzima 21-hidroxilase, forma clássica (HAC-D21-OHC). MÉTODOS: A casuística foi composta por 58 famílias com 79 indivíduos afetados (67 vivos e 12 mortos) com pais normais e pelo menos um filho afetado vivo com diagnóstico comprovado da doença. A freqüência de indivíduos afetados foi avaliada pelas técnicas de Haldane e Hogben, com análise por seleção truncada. Também foram avaliadas a história parental de consangüinidade e a freqüência de homozigose de mutações no gene CYP21A2, bem como a forma clínica da doença e a distribuição por gênero. RESULTADOS: Dez famílias apresentaram história de consangüinidade entre os pais e mais cinco com homozigose no estudo molecular. A freqüência de indivíduos afetados nas irmandades avaliadas foi de 23,5%, semelhante à esperada de 25%; no entanto, com distribuição heterogênea. Quanto às formas clínicas, 56 (70%) eram perdedores de sal (25M:31F) e 23 (30%) virilizantes simples (10M:13F), não sendo observada diferença na distribuição entre os gêneros. CONCLUSÕES: Estes dados confirmam que a HAC-D21-OHC apresenta padrão de herança monogênica autossômica recessiva, com freqüência de 23,5% na irmandade de indivíduos afetados, elevada taxa de consangüinidade e proporção semelhante entre os gêneros, porém com distribuição heterogênea no número de casos nas irmandades e predomínio da forma clínica perdedora de sal.202206Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq

Central precocious puberty as a sole manifestation of suprasellar arachnoid cyst

OBJECTIVE: Arachnoid cysts (AC) are a rare finding; 10% of them are suprasellar and occur almost exclusively in children. They are frequently associated with neurological and visual manifestations. Central precocious puberty as a sole manifestation is uncommon. CASE DESCRIPTION: Girl evaluated at the age of two years and seven months. She started breast development at the age of one year and eight months, pubic and axillary hair at the age of two years, with growth velocity acceleration (13cm/year) and increased bone age (seven years and one month). On exam: weight: 22.6kg (Z+4.0), height: 106cm (Z+3.5) and puberal stage of B3P2. The GnRH stimulus test was performed (basal LH 8.3 IU/L, at 30 minutes 94.3 IU/L; FSH basal=10.1 IU/L, at 30 minutes 29.5 IU/L). Nuclear Magnetic Resonance of the skull showed a suprasellar arachnoid cyst. Others stimulation tests were performed and excluded pituitary deficiencies. Treatment with a GnRH analog was started. At the age of four years and three months, she was B3P2, with normal growth velocity and neurologic development. COMMENTS: Central precocious puberty can be the only manifestation of AC. It is essential to establish early diagnosis and treatment. A prolonged follow up is recommended, since late pituitary dysfunctions can occur.OBJETIVO: Os cistos aracnoides são achados raros. Em 10% dos casos, sua localização é supraselar e ocorrem quase exclusivamente em crianças. Em geral, apresentam manifestações neurológicas e visuais, sendo incomum a puberdade precoce central como sinal clínico de sua presença. DESCRIÇÃO DO CASO: Menina avaliada aos dois anos e sete meses por telarca iniciada com um ano e oito meses e pubarca e axilarca com dois anos, com aumento da velocidade de crescimento (13cm/ano) e da idade óssea (sete anos e um mês). Ao exame, apresentou peso de 22,6kg (Z+4,0), estatura de 106cm (Z+3,5) e Tanner de M3P2. Exames realizados: teste de estímulo com GnRH (LH basal 8,3 UI/L, pico aos 30 minutos 94,3 UI/L; FSH basal=10,1 UI/L, pico aos 30 minutos 29,5 UI/L), ressonância nuclear magnética de crânio com cisto aracnoide supraselar e demais testes de função hipofisária normais. Foi iniciado tratamento com análogo de GnRH. Atualmente, aos quatro anos e três meses com estadio puberal M3P2, velocidade de crescimento e desenvolvimento neuropsicomotor normais para a idade. COMENTÁRIOS: A puberdade precoce central pode ser manifestação única de um cisto aracnoide, sendo essenciais o diagnóstico e o tratamento precoces, além de seguimento prolongado, uma vez que outras disfunções hipofisárias podem ocorrer tardiamente.12612

[evidences For Subclinic Chronic Autoimmune Thyroid Disease In Girls With Turner Syndrome].

Patients with Turner syndrome (TS) frequently exhibit transient, recurrent and asymptomatic variations of TSH and/or thyroid hormones (TH). This work was carried out to evaluate thyroid function and structure in patients with TS who had had such variations in hormone concentrations. Our sample comprised 24 patients, 17 less than 20-years old. Evaluation included serum levels of TSH, free T4, total T3, TPO and Tg autoantibodies, thyroid ultrasound (US) and scintigraphy with 99mTc-pertechnetate. Thirteen patients had abnormal TSH and/or TH levels; 23 exhibited US features compatible with chronic thyroid disorder, particularly thyromegaly (established according to volume expected for stature) and heterogeneous echogenicity. Uptake was normal in 21 cases and tracer distribution was homogeneous in 22. The finding of abnormal hormone concentrations was independent of age, length of time since the first similar finding, thyroid autoantibodies, number of abnormalities at US and abnormal scintigraphic findings. Patients aged more than 20 years had higher frequency of thyroid antibodies and heterogeneous echogenicity, and thyroid volume was significantly correlated to length of time since detection of the first hormone variation, indicating progressive thyroid disease. These results suggest that subclinical thyroid dysfunction in TS is due to chronic autoimmune thyroid disease.51401-

Evidences for subclinic chronic autoimmune thyroid disease in girls with Turner Syndrome

Patients with Turner syndrome (TS) frequently exhibit transient, recurrent and asymptomatic variations of TSH and/or thyroid hormones (TH). This work was carried out to evaluate thyroid function and structure in patients with TS who had had such variations in hormone concentrations. Our sample comprised 24 patients, 17 less than 20-years old. Evaluation included serum levels of TSH, free T4, total T3, TPO and Tg autoantibodies, thyroid ultrasound (US) and scintigraphy with 99mTc-pertechnetate. Thirteen patients had abnormal TSH and/or TH levels; 23 exhibited US features compatible with chronic thyroid disorder, particularly thyromegaly (established according to volume expected for stature) and heterogeneous echogenicity. Uptake was normal in 21 cases and tracer distribution was homogeneous in 22. The finding of abnormal hormone concentrations was independent of age, length of time since the first similar finding, thyroid autoantibodies, number of abnormalities at US and abnormal scintigraphic findings. Patients aged more than 20 years had higher frequency of thyroid antibodies and heterogeneous echogenicity, and thyroid volume was significantly correlated to length of time since detection of the first hormone variation, indicating progressive thyroid disease. These results suggest that subclinical thyroid dysfunction in TS is due to chronic autoimmune thyroid disease.O seguimento de pacientes com síndrome de Turner (ST) freqüentemente revela alterações transitórias, recorrentes e assintomáticas de TSH e/ou hormônios tireóideos (HT). Neste trabalho foram avaliadas estrutura e função da tireóide em portadoras da ST com história de alterações prévias desses hormônios. A casuística incluiu 24 pacientes, 17 com menos de 20 anos, avaliadas laboratorialmente pelas concentrações séricas de TSH, T4 livre, T3 e anticorpos anti-TPO e anti-Tg, e morfologicamente por ultra-sonografia (USG) e cintilografia com pertecnetato-99mTc. Havia alterações de TSH e/ou HT em 13 casos, e em 23 havia alterações USG compatíveis com doença crônica da tireóide, particularmente tireomegalia (estabelecida de acordo com o volume esperado para a estatura) e heterogeneidade do parênquima. A captação foi normal em 21 casos e a distribuição do radiofármaco, homogênea em 22. As alterações hormonais foram independentes da idade, do tempo de evolução, da presença de anticorpos, do número de anomalias USG e de alterações cintilográficas. Pacientes maiores de 20 anos apresentaram maior freqüência de anticorpos e de hipoecogenicidade do parênquima, e houve correlação positiva entre o volume tireóideo e o tempo de evolução, indicando comprometimento progressivo da glândula. Esses resultados sugerem que as alterações encontradas decorram de doença tireóidea auto-imune crônica.401409Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES

The complete genome sequence of Chromobacterium violaceum reveals remarkable and exploitable bacterial adaptability

Chromobacterium violaceum is one of millions of species of free-living microorganisms that populate the soil and water in the extant areas of tropical biodiversity around the world. Its complete genome sequence reveals (i) extensive alternative pathways for energy generation, (ii) ≈500 ORFs for transport-related proteins, (iii) complex and extensive systems for stress adaptation and motility, and (iv) wide-spread utilization of quorum sensing for control of inducible systems, all of which underpin the versatility and adaptability of the organism. The genome also contains extensive but incomplete arrays of ORFs coding for proteins associated with mammalian pathogenicity, possibly involved in the occasional but often fatal cases of human C. violaceum infection. There is, in addition, a series of previously unknown but important enzymes and secondary metabolites including paraquat-inducible proteins, drug and heavy-metal-resistance proteins, multiple chitinases, and proteins for the detoxification of xenobiotics that may have biotechnological applications

[congenital Adrenal Hyperplasia Due To 21-hydroxylase Deficiency: Final Height In 27 Patients With The Classical Form].

To determine final height (FH) in congenital adrenal hyperplasia (CAH) patients and investigate conditions allowing better height outcome. 13 salt-wasting (SW) and 14 simple virilizing (SV) patients were studied. FH and target height (TH) were transformed into standard deviation score (z). Data were analyzed according to sex, clinical form, age at treatment onset and length of treatment before attaining FH. zFH (n = 27) was -1.57 +/- 1.01. FH (-1.50 +/- 1.03) was below TH (-0.78 +/- 0.84) (n = 25, p < 0.001). FH has not differed according to sex, clinical form and age at therapy onset although there was a trend towards better FH in SW patients and in early treated cases; there was significant difference (p = 0.018) between patients treated for less than 5 years (-2.49 +/- 1.03) and those accompanied longer than 10 years (-1.21 +/- 0.88) before attaining FH. There was a FH impairment and adult height improvement seems to depend mainly on early diagnosis and treatment.49902-

Normalização da estatura e excesso de adiposidade corporal em crianças com a forma perdedora de sal da deficiência da 21-hidroxilase

OBJETIVO: Avaliar crescimento e composição corporal de portadores da forma clássica perdedora de sal da hiperplasia adrenal congênita por deficiência da 21-hidroxilase, comparando-os com crianças saudáveis. MÉTODOS: Foram incluídos 21 pacientes (oito meninos e 13 meninas), entre 2,1 e 10,2 anos, e 67 controles pré-púberes (36 meninos e 31 meninas), entre 1,2 e 11,7 anos. Avaliou-se peso, estatura, perímetro braquial, dobras cutâneas, composição corporal por bioimpedância e idade óssea. Foram obtidas dos prontuários dos pacientes as seguintes informações: estatura dos pais, valores de 17-OH progesterona e Δ4-androstenediona, dose de hidrocortisona prescrita, dados de peso e estatura ao nascimento, no início do tratamento e aos 2 anos de idade. RESULTADOS: Os pacientes apresentaram menor escore z de peso e de altura na primeira consulta em relação à situação de nascimento, com posterior recuperação após o início do tratamento, sem apresentar avanço da idade óssea. A média do escore z da altura dos controles (0,28±0,86) foi maior que a dos casos (-0,61±0,99, p < 0,001). Essa diferença desaparece quando se ajusta a altura dos pacientes para a idade óssea (0,33±1,68, p = 0,912). Os pacientes apresentaram maiores índices de massa corporal (p < 0,001), massa gorda (p < 0,001) e índice de massa gorda (p < 0,001) do que os controles. Não houve diferença entre as dobras cutâneas dos 2 grupos (p = 0,157). CONCLUSÕES: Os pacientes apresentaram recuperação do crescimento com média de estatura semelhante à da população geral, porém com maior adiposidade corporal, que parece ser visceral, já que não houve diferença entre as dobras cutâneas