Pediatric Endocrinology, Diabetes, and Metabolism

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Monogenic obesity can be caused by a mutation in one of the single genes involved in hunger and satiety. The most common mutations affect melanocortin 4 (MC4) followed by the leptin gene and its receptor. Leptin receptor (LEPR) gene mutation is an extremely rare endocrine disease characterized by early-onset obesity, hyperphagia in addition to pituitary hormone deficiency, and metabolic abnormalities. We report the case of a 12-month-old male infant born of a non-consanguineous marriage. He presented to us with rapid weight gain from 2 months of age along with hyperphagia...

INTRODUCTION: Isolated premature pubarche (PP) in infancy may be the reason for many diagnostic difficulties. This is due to the low incidence and, therefore, the limited number of studies on this subject and the lack of strict laboratory standards because of the physiological variability of gonadotropic hormone and androgen concentrations during minipuberty. MATERIAL AND METHODS: We aimed to present current knowledge about PP in infancy based on the literature review and 2 cases of male infants with scrotal hair during minipuberty...

Obesity is a worldwide problem, and the fact that it increasingly affects children and adolescents is worrying. The COVID-19 pandemic and the restrictions introduced affected the physical activity of children and adolescents, and changed their lifestyle and the amount of time spent in front of screens, which are significant factors correlated with weight gain. Due to the scale of the problem of obesity and overweight, much attention is currently paid to seeking effective forms of therapy in these different, difficult circumstances...

INTRODUCTION: Subclinical hypothyroidism (SH) is a biochemical diagnosis made when a serum thyroid-stimulating hormone (TSH) is ele-vated with circulating thyroid hormone levels within their reference ranges. AIM OF THE STUDY: Aim of our prospective non-randomized study was to evaluate the course of SH. MATERIAL AND METHODS: All patients with suspicion of SH referred to the Endocrinology Outpatient Clinic between 2014 and 2018 were recruited to prospective study...

AIM OF THE STUDY: To investigate the relationship of renal function markers and lipid metabolism parameters in obese adolescents. MATERIAL AND METHODS: The study comprised 76 children aged 11-17 years, hospitalised due to: obesity (group I - 19 children) or obesity accompanied by obesity-induced hypertension (group II - 30 children) or normosthenic children with a diagnosed tension headaches (control group - 27 children). A subgroup with metabolic syndrome (MS - 16 children) was also separated...

INTRODUCTION: It is proven that life style modification (diet and physical exercises) have positive effect on the metabolic functions in pa-tients with obesity, even without significant weight reduction. AIM OF THE STUDY: The objective of the present study was to check whether the intensive controlled lifestyle intervention (personalized diet modification and monitored, regular physical activity) may have positive impact on the concentration of irisin and chemerin in children with obesity...

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...

INTRODUCTION: Type 1 diabetes mellitus (DM1) represents a growing global health problem with significant morbidity. Fibroblast growth factor 21 (FGF21) is an adipokine expressed predominantly in the liver that plays an important role in metabolic regulation. AIM OF THE STUDY: This study assesses FGF21 levels in children with DM1, in comparison to controls, and correlates them with diabetes duration, glycated haemoglobin (HbA1c), and diabetic microvascular complications...

INTRODUCTION: Diabetes is a non-contagious disease, but it can cause various complications. One of the most common complications of diabetes is diabetic ulcers. Diabetic ulcers are infections that occur in the legs of diabetics due to the destruction of the deepest skin tissue. Recent studies have reported the presence of Alcaligenes faecalis with extensive drug resistance (XDR) properties as a cause of diabetic ulcers. Bacteriophages are known to have the ability to infect bacteria specifically so that they can be used as an alternative solution for treating diabetic ulcers...

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...

The role of a multidisciplinary diabetes team (MDT) in the treatment of a person with diabetes is emphasized by both Polish and international recommendations. The importance of the availability of psychological care for the well-being and mental health of individuals (and their caregivers), as well as for diabetes management and medical outcomes, is a subject of numerous analyzes. Despite the recommendations and research showing the benefits of psychological intervention and support, there is a scarcity of data on the real availability of such care, both in Poland as well as worldwide...

Technological advances offer the opportunity to improve glycemic control and reduce the risk of complications and burden of type 1 diabetes while improving patient quality of life. Closed-loop insulin delivery systems take the technology to a larger scale by integrating CGM systems with an insulin pump and an algorithm that automates insulin delivery (HCL systems). Several systems using hybrid closed loop technology are currently offered in the global marketplace: the MiniMed™ 670G and MiniMed™ 780G (SmartGuard™) system from Medtronic; the T slim x2 Control IQ from Tandem; the Omnipod5 automated mode (HypoProtect™)5 from Insulet; and the CamAPS FX DanaRS or Ypso pump...

The clinical onset of type 1 diabetes (namely stage 3 type 1 diabetes [T1D]) is preceded by a relatively prolonged pre-symptomatic phase featured by islet autoimmunity [1] with (Stage 2 T1D) or without (Stage 1 T1D) dysglycaemia. While islet autoimmunity is the hallmark of the underlying autoimmune process, very little evidence is available for the metabolic changes that accompany the loss of functional beta cell mass. Indeed, a steep decline of C-peptide - a surrogate marker of beta cell function - is measurable only ~6 months before the onset of Stage 3 T1D [2]...

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)...

INTRODUCTION: In view of the modifications in the endocrine society guidelines on evaluation and management of children with congenital adrenal hyperplasia (CAH), we performed a review of children and adolescents with CAH. MATERIAL AND METHODS: An audit of 35 children with CAH presenting to the pediatric endocrinology clinic between January 2014 to November 2021 was conducted by formulating ten audit questions. The areas of focus included: genital reconstructive surgery, neonatal screening for CAH, stress dosing, need for adrenocorticotrophic hormone (ACTH) stimulation test, growth promoting therapy, bone age assessment, adrenal imaging, bone mineral density assessment, adequacy of hormone replacement and appropriate management of non-classical CAH...

INTRODUCTION: Obesity is a complex condition with multifactorial aetiopathogenesis. Adipose tissue is reservoir of many adipokines which play a great role in proinflammatory response in obesity. Aim of the study: Comparative assessment of ghrelin, leptin, and interleukin-6 (IL-6) salivary concentration among children having proper and excess of body mass. Analysis of the interrelationship between the obtained concentrations of substances and selected anthropometric parameters and blood pressure values in the studied children...

INTRODUCTION: Type 1 diabetes mellitus (T1DM) is one of the most common chronic diseases in childhood. Because acute glycaemic com-plications account for most concerns in the management of T1DM in children, special attention during the challenging time of the global COVID-19 pandemic is required to prevent deteriorations resulting in acute hospitalization. AIM OF THE STUDY: is to assess how the COVID-19 pandemic influenced the incidence and causes of acute hospitalizations and emergency room visits in adolescents with established type 1 diabetes mellitus, and to characterize the admitted population...

INTRODUCTION: Drug-induced diabetes mellitus (DIDM) could be defined as a heterogenic group of diabetes caused by pharmacotherapy. The DIDM is considered to be reversible after discontinuation of diabetogenic treatment, but there is a risk of persistence, which is related to the duration of treatment, prescribed medication, and body mass index. CASE PRESENTATION: A 13-year-old boy treated for nephrotic syndrome with the use of tacrolimus and prednisone was diagnosed with diabetes during a check-up visit...

INTRODUCTION: Optimal glycaemic control is essential for the prevention of future micro- and macrovascular complications in type 1 diabetes (T1D). The type of insulin, the type of insulin delivery device, the caregiver's knowledge, the patient's age, duration of diabetes, and self-monitoring of blood glucose affect glycaemic control in type 1 diabetes. In the present study, we analysed glycaemic control and factors affecting it at a tertiary care centre in northern India. MATERIAL AND METHODS: A retrospective review of records of patients registered between 2015 and 2018 was done...