Pediatric Endocrinology, Diabetes and Metabolism最新文献

Newborn screening for congenital hypothyroidism (CH) has been highly effective in preventing devastating neurodevelopmental and physical sequelae in affected infants. We report a case of an ectopic thyroid gland located in the submandibular area detected at the age of 3 months, which was missed by congenital hypothyroidism screening test based on twice-repeated TSH measurement in dried blood spots. The diagnosis of subclinical hypothyroidism was confirmed on the basis of blood test performed in the endocrine clinic: TSH 26.3 µIU/ml (N: < 10 µIU/ml), with FT4 14.7 pmol/l (N: 10-25 pmol/l) and fT3 6.9 pmol/l (N: 3-8 pmol/l). Ultrasonography and scintigraphy revealed ectopically located thyroid tissue in the sublingual area. In the case of doubtful results of a neonatal screening test or in any case of suspected congenital hypothyroidism, the diagnosis should be supplemented with ultrasound examination of the neonate's neck and followed by scintigraphy if necessary.

DiGeorge syndrome is associated with microdeletion of chromosome 22q11. Hypoplasia of the thymus, hypoparathyroidism, facial malformations and cardiac defects as well as learning difficulties are typical features of the disease. On the other hand hypocalcemia related to hypoparathyroidism is not present in every patient and can develop later and be persistent or transient and is often masked by the other signs or symptoms. We described a 13-year-old boy diagnosed with DiGeorge syndrome, after a few years of nonspecific signs and symptoms, and a microarray examination performed because myopathy was suspected on the basis of elevated creatine kinase activity. Only after molecular confirmation of DiGeorge syndrome the patient was referred to a pediatric endocrinologist and proper therapy started. Looking back to his medical history, low calcium levels were at least 2 times reported in the medical records, the child had learning difficulties, speech disturbances, and submucosal cleft palate suspicion. In conclusion it is important to educate general practitioners and pediatricians to check the serum calcium levels in patients presenting with nonspecific, muscular signs and symptoms.

There has been a global increase in the average body mass index (BMI) in children and an alarming trend of increasing weight among the youngest children in recent decades. Childhood excess weight and obesity result in premature adult mortality and morbidity. Obesity is not only a risk factor for other diseases but is also a complex, multifactorial disease in its own right, linked to a genetic predisposition influenced by an increasingly permissive environment from intrauterine life throughout childhood and adolescence into adulthood. Knowledge of the prevalence of obesity from the earliest life stages and its trajectory is essential to raise awareness of the risks at each stage and to indicate the potential age of prevention and intervention. Taking effective anti-obesity measures in children, both preventive and therapeutic, is now a necessity, with successful interventions used to decrease body weight and thus reduce health consequences. Identified risk factors in the first 1,000 days of life and even earlier, before conception, suggest that this is a key period for the development of overweight and obesity, and it appears to be the best time for preventive action. The growing phenomenon of obesity among children requires not only prevention but also integral treatment. Lifestyle change intervention programs are considered key to the treatment of childhood obesity. Obesity trajectories, the higher effectiveness of applied interventions observed in younger age groups, and the dependence of the risk of developing complications on the duration of obesity confirm the need for early diagnosis and treatment of obesity in children from an early age. The main aim should be to prevent the onset of obesity, thus reducing the future health, social, and financial consequences.

Introduction: Turner syndrome (TS) predisposes to metabolic complications. Currently, TS patients are treated with recombinant human growth hormone (rGH) as standard therapy. The long-term effect of this therapy on carbohydrate metabolism remains unclear. Aim of the study: To assess possible metabolic alterations following rGH therapy.

Material and methods: Material and methods: We enrolled 53 TS participants, comprising 37 patients who finished rGH therapy (group 1) and 16 patients who did not receive growth promoting therapy (group 2). Several anthropometric measurements were made. Carbohydrate and lipid metabolism, adipokines, and hs-CRP were assessed basing on laboratory test. The following indices were calculated: HOMA-IR, HOMA-b, QUICKI, and Matsuda.

Results: There were no statistically significant differences between the 2 groups in terms of BMI or WHR. There was a statistically significant lower mean percentage of fat tissue in group 1 compared to group 2 (27.46% vs. 31.75%). Insulin resistance and sensitivity indices were not statistically different between groups. Using the Matsuda index, more patients who met criteria of insulin resistance were found in group 2 than in group 1 (56.25% vs. 37.84%); however, this difference was not statistically significant (p = 0.2). No statistically significant differences were found in lipid profile, adipokines, and hsCRP between groups.

Conclusions: rGH therapy leads to a beneficial change in body composition of TS patients despite unchanged BMI. A decrease in body fat persists for several years after finishing rGH treatment; rGH treatment is connected with a trend toward increased insulin sensitivity.

Aim of the study: To investigate the "prenatal testosterone hypothesis", according to which, high level of testosterone associated with the development of ADHD like symptoms in younger children, and to investigate whether maternal stress during pregnancy in-creases the risk of developing ADHD like symptoms in early childhood.

Design: This was a prospective study with three measurement periods: the first one during pregnancy (12 to 25 weeks of gestation); the second period involved the assessment of infants of this pregnancy at the age of 6 months and the third one the assessment of the same infants at the age of 18 months. The research plan is approved by "David Tvildiani Medical University" Research Ethics Committee. The study does not contain serious predictable risks as the expected benefit overweighs them.

Material and methods: The study group is presented by 40 pregnant women and 40 infants of these pregnancies. Pregnant women were asked about their perceived stress levels, critical life events of the past year and pregnancy-specific stress levels using standardized questionnaires. Child's temperament and behavioral regulation were assessed using the questionnaires. Amniotic fluid was collected undergoing amniocentesis. Total testosterone in amniotic fluid was measured by radioimmunoassay.

Results: Although statistically significant relationship was identified between hyperactivity, also impulsiveness symptoms and pre-natal stress, no statistically significant relationship was identified between testosterone level and hyperactivity, also impulsivity symptoms, as well as between testosterone level and prenatal stress level.

Conclusions: The performed study did not support the "hypothesis about prenatal testosterone", because there was a significant negative correlation between the frequency of hyperactivity symptoms and testosterone level.

Introduction: Menstrual disorders in adolescent girls are a common clinical problem. They are often accompanied by lipid and glucose metabolism disturbances. The aim of the study was to investigate to what extent the metabolic profile of adolescent girls relates to the severity of their menstrual disorders.

Material and methods: The study included 165 girls with menstrual disturbances and 49 regularly menstruating girls (REG) without clinical hyperandrogenism, matched for age and BMI. The subjects from the study group were divided into 2 subgroups: OLIGO - 111 girls with oligomenorrhea and SA - 54 girls with secondary amenorrhoea. In all girls, hormonal, lipid, and carbohydrate metabolism profiles were assessed.

Results: In the SA subgroup concentrations of total cholesterol (TC) and LDL were significantly higher than in the REG and OLIGO groups. Triglyceride (TG) concentration was also the highest in the SA group and significantly higher than in the REG group. The prevalence of lipid metabolism disorders was higher in the SA group (65%) vs. the REG (40%) and OLIGO (51%) groups. The subgroups did not differ significantly in terms of fasting and OGTT glucose and insulin as well as HOMA-IR. TyG index was significantly higher in the OLIGO and SA groups than in the REG group. BMI z-score correlated with TG, LDL, fasting and 120' OGTT glucose and insulin, HOMA-IR, and TyG and negatively with HDL. No relationship between hormonal concentration and metabolic disturbances was found.

Conclusions: Adolescent girls with menstrual disorders are insulin resistant, regardless of PCOS diagnosis. The severity of menstrual disorders may be related to the incidence of lipid disorders in adolescent girls.