Turner syndrome and metabolic derangements: another example of fetal programming.

BACKGROUND AND AIM: Turner syndrome (TS) patients have an increased risk of weight gain and metabolic syndrome. To date, it is unknown what factors are involved in this metabolic process, even though it is recognized that TS patients are frequently born small-for-gestational age. The aim of this study was to evaluate the correlation between lipid and glucose profiles with being overweight and birth weight and length in TS patients. STUDY DESIGN: This was a cross-sectional study. SUBJECTS AND OUTCOME MEASURES: Serum glucose, insulin (HOMA-IR), total cholesterol, and triglycerides were measured in 64 patients with TS. Data regarding birth weight and length and current body mass index (BMI) were also evaluated. RESULTS: Total cholesterol showed a significant negative correlation with birth weight and a positive correlation with BMI; triglycerides showed significant negative correlation with birth weight and length and a positive correlation with BMI; and HOMA-IR showed a significant negative correlation with birth weight and length. Low birth weight and a high BMI were predictive for 28% of total cholesterol and triglycerides; and low birth weight for 22% of HOMA-IR. CONCLUSIONS: Lipid profile was correlated with a high current BMI and low birth weight and length in TS patients and glucose profile only with low birth weight. Thus far, growth retardation may play a role in metabolic derangements in this group of patients, being considered another example of fetal programming.

Growth hormone effect on body composition in Turner syndrome.

This study analyzes the body composition of young adult women with Turner syndrome (TS) either treated or not treated with recombinant human growth hormone (rhGH) and compares them with a group of healthy women. Fifty-two non-treated TS patients (23.0 ± 5.8 years), 30 treated with rhGH (21.5 ± 1.5 years), and 133 healthy young adult women (22.9 ± 3.2 years) were evaluated regarding height (H) and weight, body mass index (BMI), brachial perimeter and tricipital cutaneous fold (fat and lean areas at the arm), sitting height (SRH = sitting height/H × 100), leg length (leg/H), waist and hip circumferences (waist/hip), and bioimpedance (percentages of water, lean mass, and fat mass). Age at start of rhGH therapy varied from 7.8 to 15.1 years (10.0 ± 1.3 years), duration of treatment from 2.8 to 8.2 years (3.7 ± 1.5 years), and the mean dose was 0.42 mg/kg/w (from 0.32 to 0.50 mg/kg/w). Body composition (except height) did not differ between TS groups, but there were differences when compared to the control group: weight and sitting height were lower in TS patients; and BMI, SHR, and leg/H were higher. There was an association between all groups with regards to BMI, waist, SHR, and leg/H, but not in percentage of fat mass. SHR was positively correlated with BMI, waist, hip, and percentage of fat mass. This sample of TS patients (with and without rhGH therapy) did not differ in BMI or body composition. However, there were differences between patients with TS patients and normal healthy women. Regardless of rhGH therapy, TS patients should be monitored, particularly for sitting height, SHR, leg length, leg/H, and waist/hip.

[Body composition in females with 21-hydroxylase deficiency: comparison of anthropometric methods and bioelectric impedance in relation to a control group]. / Composição corporal em mulheres com deficiência da 21-hidroxilase: comparação dos métodos antropométricos e de impedância bioelétrica em relação a um grupo controle.

OBJECTIVE: To estimate body composition by evaluating skinfold thickness (ST) and electric bioimpedance (EB) in a group of women with congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency (CAH-C-21OHD) in relation to a control group. SUBJECTS AND METHODS: Sixteen patients and 26 controls were evaluated, all female, with age varying from 8 to 18 years. Fat (FM) and lean (LM) masses were evaluated by ST and EB. FM and LM data were analyzed in relative (%) and absolute (kg) values, and in relation to stature (FMI and LMI). RESULTS: There were no observed significant differences between the two methods in each group. In relation to the control group, CAH-C-21OHD patients showed higher values for FM (%) EB, FMI EB and LMI ST but lower values for FM (%) EB. Positive and high correlation values were observed for all parameters analyzed. CONCLUSION: ST and EB results observed were similar in this sample of females with CAH-C-21OHD, but controversial in relation to the control group, suggesting caution when using these methods to evaluate body composition in this population.

Composição corporal em mulheres com deficiência da 21-hidroxilase: comparação dos métodos antropométricos e de impedância bioelétrica em relação a um grupo controle / Body composition in females with 21-hydroxylase deficiency: comparison of anthropometric methods and bioelectric impedance in relation to a control group

OBJETIVO: Estimar a composição corporal avaliada pela espessura de dobras cutâneas (EDC) e pela impedância bioelétrica (BIA) em um grupo de mulheres com hiperplasia adrenal congênita, forma clássica por deficiência da enzima 21-hidroxilase (HAC-C-D21OH) e em relação ao um grupo controle. PACIENTES E MÉTODOS: Foram avaliadas 16 pacientes com HAC-C-D21OH e 26 controles, todas do sexo feminino, com idades de 8 a 18 anos. Foram estimadas as massas gorda (MG) e magra (MM) utilizando EDC e BIA. Os dados das MG e MM foram analisados de forma relativa ( por cento), absoluta (kg) e em relação à estatura (IMG e IMM). RESULTADOS: Não foram encontradas diferenças significativas entre os dois métodos em cada grupo avaliado. Em relação ao grupo controle, as pacientes com HAC-C-D21OH apresentaram valores maiores de MG ( por cento) BIA, IMG BIA e IMM EDC e menores de MM ( por cento) BIA. Foi verificada correlação positiva e alta em todos os parâmetros analisados. CONCLUSÃO: Os resultados observados pelos métodos de EDC e BIA foram semelhantes nesta amostra de mulheres com HAC-CD21OH, porém controversos em relação ao grupo controle, sugerindo que se tenha cautela no uso desses métodos de avaliação da composição corporal nessa população.

OBJECTIVE: To estimate body composition by evaluating skinfold thickness (ST) and electric bioimpedance (EB) in a group of women with congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency (CAH-C-21OHD) in relation to a control group. SUBJECTS AND METHODS: Sixteen patients and 26 controls were evaluated, all female, with age varying from 8 to 18 years. Fat (FM) and lean (LM) masses were evaluated by ST and EB. FM and LM data were analyzed in relative ( percent) and absolute (kg) values, and in relation to stature (FMI and LMI). RESULTS: There were no observed significant differences between the two methods in each group. In relation to the control group, CAH-C-21OHD patients showed higher values for FM ( percent) EB, FMI EB and LMI ST but lower values for FM ( percent) EB. Positive and high correlation values were observed for all parameters analyzed. CONCLUSION: ST and EB results observed were similar in this sample of females with CAH-C-21OHD, but controversial in relation to the control group, suggesting caution when using these methods to evaluate body composition in this population.

Impairment in anthropometric parameters and body composition in females with classical 21-hydroxylase deficiency.

The aim of this study was to evaluate the physical measurements and body composition of female patients with the classic form of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Twenty-eight girls with CAH were classified according to both hormonal control (well or not well controlled) and the clinical form of the disease (simple virilizing or salt-wasting). In the control group, 112 healthy individuals were included, divided into two subgroups (male and female). Both patients and controls were subdivided by age into three groups according to pubertal stage: < or =10 years (prepubertal), 11-15 years (pubertal), and > or =15 years (postpubertal). Anthropometrical evaluations and bioelectrical impedance were used to obtain the physical measurement and body composition data. The patients with the simple virilizing form presented higher values for BMI, waist, arm fat area, and fat mass percentage. The not well controlled group presented shorter leg length. Values obtained for BMI as well as for arm fat area, brachial circumference, waist, hip, bi-iliac diameter and fat mass percentage were significantly higher in the patients than in the controls, whereas leg length, hand size and the percentages of water and lean mass were lower. Alterations in body composition were observed in all age groups, mainly by increase of fat mass with age. After puberty, impairments in limb measurements (leg, hand and foot) were more evident. Patients with CAH presented differences in anthropometric parameters but mainly in body composition. Hence, more comprehensive and careful anthropometric evaluation during monitoring of patients with CAH is recommended.

[Evaluation of insulin resistance and lipid profile in turner syndrome]. / Avaliação da resistência insulínica e do perfil lipídico na síndrome de turner.

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 >25 Kg/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 +/- 34 mg%; TGC 108 +/- 96 mg% (2 >200); HOMA 1.01 +/- 0.71; QUICKI 0.4 +/- 0.04 and G/I 23.5 +/- 12.1 (2 <7.0). CONCLUSIONS: Changes were observed in lipid profile independent of age, karyotype, SAH and obesity, but associated with IR. The frequency of IR was lower than described in literature, and seems to be directly linked to chronological age, obesity and estrogen therapy.

Composição corporal e metabolismos glicídico e lipídico na síndrome de turner / Body composition and glucose and lipid metabolism in turner syndrome

Objetivo: analisar a composição corporal, o perfil lipídico e sensibilidade insulínica em um grupo de pacientes brasileiras com síndrome de Turner.Estudo transversal de 35 pacientes com síndrome de Turner com avaliações da composição corporal por bioimpedância, e dosagens séricas de colesterol, lipoproteína de alta densidade, triglicérides, glicose e insulina, com cálculos de Homeostasis Model Assessment, Quantitative insulin Sensitivity check index e relação entre glicose e insulina. A idade variou entre 5 e 43 anos (17+- 8 anos). Vinte eram púberes e 16 necessitaram reposição estrogênica. O escore -Z do índice de massa corporal foi maior que +2 desvios-padrão em apenas um caso, enquanto 19apresentaram a relação entre circunferência da cintura e do quadril acima de 0,85. Não se encontrou relação entre valores do perfil lipídico com a idade, a presença de puberdade ou o uso de estrógenos, com exceção dos triglicérides que foram mais elevados nos pacientes com puperdade induzida. Todas apresentaram índices de Homeostasis Model Assessment e quantitative Insulin Sensitivity Check Index normais e três com a relação entre glicose e insulina abaixo de 7,0. Este grupo de pacientes não apresentou resistência insulínica nem obesidade, mas uma deposição localizada de gordura no abdome. Foram observadas poucas alterações no perfil liídico independentemente da faixa etária e da puberdade.

Avaliacão da resistência insulínica e do perfil lipídico na síndrome de turner / Evaluation of insulin resistance and lipid profile in turner syndrome

OBJETIVO: Avaliar a presenca de resistência insulínica (RI) e alteracões lipídicas na síndrome de Turner (ST), correlacionando com idade, cariótipo, pressão arterial (PA), estatura, peso, índice de massa corporal (IMC) e desenvolvimento puberal. CASUíSTICA E MÉTODO: Estudo transversal em 35 pacientes com ST confirmada pelo cariótipo (5 a 43 anos), sem uso prévio de anabolizantes ou hGH, avaliando PA, desenvolvimento puberal, antropometria, medidas de cintura (C) e quadril (Q), colesterol total, HDL, triglicérides (TGC), LDL, insulina e glicose. Foram calculados os índices de HOMA e QUICKI, e a relacão glicose/insulina (G/I). Para a análise descritiva dos dados foram aplicados os testes de Mann-Whitney e Spearman. RESULTADOS: Dez pacientes tinham >20 anos. O cariótipo 45,X ocorreu em 17, e 6 com aberracões estruturais; não houve diferencas das variáveis em relacão 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 n 42mg por cento (4 >240); o HDL de 57 n 16mg por cento; o LDL de 99 n 34mg por cento; os TGC de 108 n 96mg por cento (2 >200); o HOMA de 1,01 n 0,71; o QUICKI de 0,4 n 0,04 e a G/I de 23,5 n 12,1 (2 <7,0). CONCLUSÕES: Observaram-se alteracões 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 reposicão estrogênica.