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.