[Fatty liver disease, insulin resistance and adiponectin in an obese pediatric population]. / Esteatosis hepática, resistencia a la insulina y adiponectina en una población con obesidad.

INTRODUCTION: To study the clinical and laboratory relationships of fatty liver disease in a group of obese children and to investigate whether circulating adiponectin is related to fatty liver disease. PATIENTS AND METHODS: Two hundred-ninety obese patients (age 4-18 years) were studied. Baseline body mass index-standard deviation score (BMI-SDS), acanthosis nigricans, blood pressure, plasma lipids, uric acid, alanine aminotransferase (ALT) and adiponectin were assessed, and a standard oral glucose tolerance test was performed. Insulin resistance (RI) was estimated by the homeostasis model assessment (HOMA) and liver steatosis was assessed by ultrasound (US). Children were classified as having metabolic syndrome if they met three or more of the following criteria: obesity, hypertension, hypertriglyceridemia, low HDL-cholesterol and impaired glucose metabolism. RESULTS: Fifty-two subjects (18%) had fatty liver by US and 22 (8%) had elevated ALT levels (> or =40 U/L). Subjects with steatosis were significantly older (12.2+/-2.4 frente a 11.1+/-2.9 yr), heavier (BMI-SDS: 4.5+/-1.5 frente a 3.8+/-1.3), and more RI (HOMA: 3.7+/-1.5 frente a 2.4+/-1.4), but were comparable in gender, pubertal status and racial distribution to those with normal US. The prevalence of metabolic syndrome and acanthosis nigricans were also higher in the steatosis frente a the normal US group. Serum adiponectin concentration was inversely correlated with age, HOMA, ALT and uric acid and directly correlated with HDL-cholesterol. In a multiple logistic regression analysis, BMI-SDS, HOMA and serum adiponectin, but not age, uric acid or triglycerides, were the covariates independently associated with the presence of steatosis (odds ratio 1.4 [1.1-1.9]; 1.3 [1.1-1.6] and 0.9 [0.8-0.9], respectively). CONCLUSIONS: Obesity and RI are risk factors for liver steatosis in children and adolescents. Decreased serum adiponectin is closely and independently associated with steatosis.

[Low stature in males with normal phenotype and 45,X/46,XY mosaicism]. / Talla baja en varones con fenotipo normal y mosaicismo 45,X/46,XY.

There is wide variation in the clinical expression of 45,X/46,XY mosaicism. Ninety percent of prenatally diagnosed boys have normal male phenotype at birth, while those diagnosed postnatally show a wide spectrum of phenotypes, ranging from Turner syndrome, mixed gonadal dysgenesis, and male pseudohermaphroditism to apparent normality. We report the clinical, cytogenetic, endocrinologic and histologic findings in three boys with an apparently normal male phenotype and 45,X/46,XY mosaicism who were diagnosed postnatally because of their short stature. With the exception of one patient with Turner stigmata, no other abnormal features were found. No correlation between the proportion of 45,X/46,XY cell lines in blood, gonads and phenotype was found. Both prenatally and postnatally diagnosed boys with normal male phenotype must be followed-up because they can develop late-onset abnormalities, such as dysgenetic testes leading to infertility or neoplastic transformation, and short stature, which could be improved with growth hormone therapy.

[Impact of diagnosis of celiac disease on metabolic control of type 1 diabetes]. / Impacto del diagnóstico de la enfermedad celíaca en el control metabólico de la diabetes tipo 1.

OBJECTIVE: To asses the prevalence of celiac disease and to evaluate the clinical effects of a gluten-free diet on metabolic control and growth in children and adolescents with type 1 diabetes mellitus (DM1). PATIENTS AND METHODS: We performed a retrospective study of 261 patients with DM1. Diagnosis of celiac disease was based on the presence of endomysium and tissue transglutaminase antibodies in serum and was confirmed by intestinal biopsy. The impact of a gluten-free diet on metabolic control (mean annual HbAlc values), growth (height and annual growth velocity) and nutritional status (body mass index) was evaluated. Patients diagnosed with DM1 and subsequently with celiac disease were compared with a control group of patients with DM1 only. RESULTS: Twenty-one (8%) of the 261 diabetic patients were diagnosed with celiac disease and 19% also had another associated autoimmune disease. No significant differences were found in growth or metabolic control after withdrawal of gluten from the diet. CONCLUSIONS: We found a high prevalence of celiac disease in our type 1 diabetes population. A gluten-free diet had no effects on metabolic control of diabetes or on height or weight. Nevertheless, given the high prevalence of celiac disease and the possible development of long-term complications, such as lymphoma and osteoporosis, we recommend systematic screening in all diabetic patients, especially in the first 5 years after diagnosis of DM1.