Pediatric Endocrinology, Diabetes and Metabolism最新文献

Clitoromegaly can be congenital or acquired, and it is usually associated with exposure to androgen excess. Pathophysiological mechanisms responsible for transient clitoromegaly in premature female infants have not been fully elucidated. Herein, we present the case of an extremely premature female twin infant, with an extensive web of skin on the back of the left leg, hypoplastic left labia majora, and normal clitoris appearance at birth. At the age of 48 days, clitoral enlargement was observed. Significantly elevated levels of gonadotropins, testosterone, and dehydroepiandrosterone sulphate (DHEAS) were recorded. 17-hydroxyprogesterone (17OHP) was unremarkable, and anti-Müllerian hormone (AMH) was low, in accordance with normal female karyotype. Ovaries were not visualised ultrasonographically. During the following weeks, gradual normalisation of gonadotropin, testosterone, and DHEAS levels was accompanied by regression of clitoromegaly. As described in this case, transient clitoral enlargement may appear in extremely premature female infants due to transitory elevated androgens of ovarian and adrenal origin.

Both obesity and asthma are increasingly being diagnosed in the childhood population. Obesity is linked to a greater asthma morbidity, and it increases the risk of severity of the disease course. The association between these 2 disorders has not yet been fully elucidated; however, several putative factors have been proposed related to mechanical and inflammatory aspects of obesity. Diet is an important adjustable element in obesity and asthma management. An unhealthy diet based on processed food is likely to promote chronic inflammation in both conditions; hence, appropriate nutrition should be an integral part of the children's therapy. This review discusses dietary models that have a positive impact on patient health.

Introduction: Arginine vasopressin deficiency (AVD) encompasses disorders marked by polyuria, polydipsia, hypernatraemia, and hyperosmolality. This study aims to refine diagnostic and therapeutic strategies to enhance the quality of life for AVD patients.

Material and methods: We conducted a 25-year retrospective analysis of imaging, hormonal, auxological, and densitometric data from 31 children diagnosed with AVD at the Department of Paediatric and Adolescent Endocrinology, Children's Hospital in Krakow between 1998 and 2023.

Results: The average duration from the onset of symptoms to AVD diagnosis was 10 months (range: 1-86 months), and from diagnosis to aetiology determination was 14 months (range: 0-86 months). Causes of AVD included idiopathic (9.7%), central nervous system tumours (61%), pituitary adenoma (5.2%), central nervous system malformations (9.7%), head trauma (6.5%), haemorrhage or hydrocephalus (6.5%), familial AVD (3.2%), and inflammatory central nervous system conditions (3.2%). Growth retardation was observed in 48.4% of cases, obesity in 41.9%, hormonal disorders in 61.3%, and low bone mass in 16.1%.

Conclusions: We developed a diagnostic and metabolic evaluation scheme for AVD that facilitates earlier aetiology identification and helps prevent hormonal, metabolic, and bone complications. This approach is crucial for improving the quality of life in both developmental and adult stages for these patients.

Nowadays, continuous glycaemic monitoring systems are used primarily for diabetic patients. The most popular continuous glycaemic monitoring (CGMs) measure the glucose concentration in the interstitial fluid every 1 or 5 minutes, providing the patient with 288 or 1,440 measurements in a day. CGM is also useful for observing sudden changes in glycaemia after the introduction of dietary interventions and those related to physical activity. Peri-prandial glycaemia is defined as the change in blood glucose levels depending on the carbohydrate-containing meal consumed. A state of peri-prandial hyperglycaemia begins when blood glucose levels rise above the level of 140 mg/dl (7.8 mmol/l) within 1-2 hours after food intake in healthy people without diabetes. The influence of the peri-prandial glycaemic response is briefly related to the amount and type of food consumed. Optimising the glycaemic profile is important for our health. The purpose of this article is to summarise the current knowledge of the effects of various meals on peri-prandial glycaemia in healthy individuals.

An infant of a diabetic mother is defined as a newborn born to a mother who has diabetes during pregnancy. The term diabetic mother refers to pregnant women with diabetes diagnosed either before (type 1 or 2 diabetes) or during pregnancy (gestational diabetes). Rising incidence of type 1 and type 2 diabetes in young women and increasing maternal age at conception account for the higher risk of birth complications and adverse maternal and infant outcomes. Infants of diabetic mothers (IDMs) because of mother's diabetes are prone to developing complications and the most common include: large birth weight and complications resulting from it (i.e. birth injuries, perinatal asphyxia), cardiovascular and respiratory insufficiency (poor tolerance of labor stress), neonatal hypoglycemia and it's complications, delayed lung maturity (fetal hyperinsulinism and the opposite function of insulin to cortisol), cardiomegaly and hypertrophy of the intraventricular septum (functional narrowing of the outflow of the left ventricle and cardiac failure), congenital malformations (most often of the central nervous system and heart). Less common complications in IDMs are: persistent pulmonary hypertension, hyperbilirubinemia, renal vein thrombosis, small left colon syndrome, intrauterine death, polycythemia, and a predisposition to obesity, insulin resistance and diabetes later in life. This article presents current knowledge about pathological conditions and the recommended management for IDMs.

Introduction: The aim of the study is to analyze patients who do not respond adequately to human recombinant growth hormone (rhGH) treatment.

Material and methods: Four boys were analyzed: three patients diagnosed with SNP at the ages of 1) 8 years and 2 months, 2) 13 years and 2 months, 3) 16 years and 6 months, and patient 4) at the age of 6 years and 11 months - born small for gestational age (SGA). They underwent rhGH treatment.

Results: The expected growth improvement was not observed in all boys. Patient 1 was diagnosed with aortic coarctation, and after each attempt to increase the rhGH dose, nocturnal vomiting occurred - epilepsy was diagnosed. Patient 2 had severe foot pain. Patient 3 had delayed puberty - hypogonadotropic hypogonadism was diagnosed. Patient 4 had dysmorphic features. Genetic tests revealed the following: 1) mixed gonadal dysgenesis - modifying treatment; 2) Fabry disease - enzyme treatment and rhGH improved growth; 3) Kallmann syndrome - discontinuing rhGH for testosterone supplementation; 4) KBG syndrome.

Conclusions: 1. The presence of dysmorphic features and symptoms atypical for growth hormone deficiencies could warrant genetic diagnostics before initiating treatment. 2. Lack of significant improvement in growth is an indication for reevaluation of patients who have not completed growth. 3. Genetic studies in this patient group often elucidate the causes of slow growth rate. 4. The case authors have developed a proposal for a multicentre program aimed at establishing indications for genetic diagnosis in children diagnosed with SNP and SGA treated with rhGH.

The partial clinical recovery phase (PCRP), or "honeymoon period", is a temporary and partial restoration of b-cell function in patients with type 1 diabetes mellitus (T1DM), in which the immune system attacks and destroys insulin-producing b-cells. The underlying causes of PCRP are not fully understood, but they are believed to involve a combination of genetic and environmental factors. Recent research has suggested a potential link between a specific allele of the prostaglandin receptor EP4 (PTGER4) and the modulation of remission in individuals with T1DM. This review aims to provide an overview of current scientific findings on the biological functions and role of the EP4 receptor in T1DM, with a particular focus on its involvement in the PCR phase. It provides a comprehensive understanding of the mechanisms underlying PCRP, which can lead to the development of more effective treatment strategies for preserving b-cell function and prolonging the PCRP. The identification of specific biomarkers associated with the PCRP and the EP4 receptor enables early identification of individuals at lower risk of long-term complications, facilitating targeted interventions and personalised treatment approaches.