Pediatric Endocrinology, Diabetes and Metabolism最新文献

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. On admission, he showed a cushingoid appearance and complained of dry mouth, which was not accompanied by polyuria or polydipsia. Blood tests showed elevated levels of glucose, and glycated A1c fraction of haemoglobin (HbA1c = 10.2%). Pancreatic islet autoantibodies were negative. The fasting and postprandial C-peptide levels were within the normal range. Diabetic ketoacidosis was excluded. Intensive insulin therapy was initially introduced; the daily dose of insulin per kilogram was low (TDD/kg = 0.31 U/kg). Those findings prompted us to consider diabetes mellitus type 2 or DIDM. Moreover, the TDD/kg and HbA1c additionally decreased after the steroid withdrawal. Because he was constantly on diabetogenic therapy and experienced periodical hyperglycaemia, DIDM could not be excluded. Therefore, our patient remained on insulin treatment.

Conclusions: DIDM in children is challenging for all specialists. Diabetologists need to remember about this rare subtype of diabetes, and other specialist should perform screening on their patients who are at risk of DIDM. There is a great need for guidelines that would provide a standardized approach for diagnosing and treating DIDM in the paediatric population.

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.

Material and methods: The study group comprised 102 children aged 7-10 years. The nutritional status of children was assessed by the use of the BMI index. The control group (n  = 74) comprised children with proper body mass, and the study group (n = 28) contained children having overweight/obesity. Saliva samples were taken from all children at school. Subsequently, some anthropometric parameters and blood pressure values of the children were measured. The laboratory assessment of substances was made by ELISA method. Next, statistical analysis of all obtained results was performed using professional software.

Results: Salivary ghrelin, leptin, and IL-6 concentrations were statistically significantly higher in the study group than in the control group (p = 0.001). The study revealed a positive correlation between salivary ghrelin concentration and BMI in the whole study population (p = 0.001), and between ghrelin concentration and body weight, waist circumference, hip circumference, and waist-to-hip ratio in all subjects. In the study group, the BMI value was positively correlated only with IL-6 saliva concentration (p = 0.005).

Conclusions: The study revealed significant differences between saliva ghrelin, leptin, and IL-6 concentration between the control group and the study group. The above findings can be a good predictor with which to detect co-existing metabolic alternations in obese patients.

Introduction: Reports assessing long-term treatment outcomes for anorexia nervosa (AN) are divergent and refer to different populations. They lack long-term observations in AN patients in Poland.

Aim of the study: Analysis of the recovery, relapse rate, and predictive factors in patients treated due to AN in adolescence.

Material and methods: A total of 201 subjects were given a survey. Ninety-seven women were recruited: 56 reported to the clinic and 41 filled in the survey.

Results: The average period from hospitalization to the survey was 7.76 ±4.39 years. Remission was found in 78.4%, 21.6% still pre-sented AN, and 84.2% required a one-off hospitalisation, 10.5% twice. The average BMI was: 20.08 ±3.24 kg/m 2 . The rate of attempted suicides was 6.2%. Predictive factors for poor outcome were as follows: older age of the patient when falling ill, lower SDS-BMI score at the onset of AN, transition from the restrictive type of AN into a binge-eating/purging type, and fail-ure to maintain contact with the mother.

Conclusions: 1. Most girls suffering from the restricting type of AN in adolescence are cured permanently. 2. The severity of symptoms in these girls does not eliminate the chance of recovery and achieving important life goals, com-pleting education, finding a life partner, and having children. 3. Girls with a smaller degree of cachexia at onset of AN, with no binge-eating/purging symptoms, maintaining regular con-tact with their mothers, have a better prognosis for recovery. 4. Six per cent of women treated in their youth for AN face the risk of attempted suicide, which points to the need to monitor their mental state for many years.

Introduction: Pituitary stalk thickening (PST) is a rare abnormality in children, and it may be challenging due to its diverse clinical picture.

Aim of the study: The aim of the study is to summarize the data on the causes and diagnostic procedures of PST.

Material and methods: Papers were searched in the PubMed database identifying published randomized clinical trials, reviews, systematic reviews, meta-analyses, and case reports.

Results: The most common causes of a thickened pituitary stalk in children are germ cell tumours (GCTs), Langerhans cell histiocytosis (LCH), and lymphocytic infundibulo-neurohypophysitis (LINH). Neurosarcoidosis, pituitary tuberculosis, granulomatosis, or specific inflammations were only reported in the paediatric population as case studies. PST mainly affects teenagers and is often detected with brain magnetic resonance imaging (MRI) in patients with central diabetes insipidus (CDI). It is not possible to differentiate the causes of PST with the use of the MRI image alone. Although various biochemical and oncological markers and other imaging tests are used, the diagnosis of PST remains a significant diagnostic challenge for clinicians. The final diagnosis is made based on histopathological examination. The indications for a biopsy are not uniform. Most experts, including the authors of the 2021 British consensus, recommend biopsy in the case of PST with a stalk lesion diameter ≥ 6.5-7 mm.

Conclusions: The differential diagnosis of PST is a challenge. The diagnostic and treatment strategy should be individually adapted. Patients should be diagnosed in large clinical centres with experience in this field.

The purpose of this work was to present the current state of knowledge on the effects of frequently used therapeutic forms, selected pharmacotherapy (including glucocorticosteroids, immune checkpoint inhibitors, mitotane, metyrapone, aminoglutetimide, etomidate, ketoconazole, fluconazole), but also radiation therapy on the functioning of the hypothalamic-pituitary-adrenal axis in children and adolescent during and after oncological treatment. The most common pediatric cancers, where complications of adrenal insufficiency occur, are presented. Moreover, current recommendations how to diagnose the function of the adrenal axis in oncological pediatric patients, as well during oncological treatment as after it, including patients treated with steroids and also patients in severe stages, are reported. The rules of the treatment of adrenal dysfunction in those patients are presented. This understanding is of key importance for oncologists and endocrinologists in the process of diagnosing, treating and developing patient health care, as well as during therapy as after it, offering safety and improving the quality of life.

Introduction: Primary hyperparathyroidism (PHPT) is a disease that is usually diagnosed in an asymptomatic state during routine biochemical screening. It generally manifests as a sporadic disease in post-menopausal women. However, in India and developing countries, we continue to see severe skeletal and renal manifestations of the disease.

Case report: Herein, we describe the case of a 16-year-old adolescent girl who presented with severe manifestations of primary hyperparathyroidism. Biochemically, she had severe parathyroid hormone (PTH)-dependent hypercalcaemia with hypophosphataemia and vitamin D deficiency (serum total Ca - 18.5 mg/dl [8.5-10.5 mg/dl], serum PO4 - 1.9 mg/dl [2.5-4.5 mg/dl], serum ALP - 2015 IU/l [80-240 IU/l], serum 25[OH]D - 19.1 ng/ml [30-100 ng/ml] and serum iPTH > 5000 pg/ml [15-65 pg/ml]). Pre-operatively, she required management with saline diuresis, bisphosphonate, and calcitonin. After surgery, the patient had severe hungry bone syndrome (serum Ca - 4.1 mg/dl, serum PO4 - 2.1 mg/dl, serum ALP > 10,000 IU/l) that required treatment with calcium infusions for almost 3 months. Although the clinical and biochemical picture was suggestive of parathyroid carcinoma, histopathology revealed atypical parathyroid adenoma with low proliferative index. Atypical parathyroid adenoma is a term applied to a neoplasm with 'worrisome' features but not fulfilling the 'absolute histopathological criteria of malignancy'.

Conclusions: Atypical parathyroid adenoma, a rare cause of PHPT, may be associated with severe manifestations. Although malignancy was not discerned in the immediate post-operative period, we plan to continue long-term follow-up of the patient to look for any signs of recurrence or development of parathyroid carcinoma.

Familial hypercholesterolaemia is one of the most common genetic diseases, and its first symptoms occur in childhood. Proper diagnosis and treatment prevent young patients from severe consequences in their future. The treatment of this dyslipidaemia is still evolving, and new promising agents are being discovered. In this review we summarize the old and new treatment methods of familial hypercholesterolaemia, giving an update estimated on the latest publications.

A 16-years old boy with diagnosis of Grave's disease was treated with methimazole for one year before radical total thyroidectomy treatment due to persistence of clinical hormonal hyperthyroidism. Histological analysis revealed the presence of a papillary microcarcinoma. The management of Grave's disease in pediatric age is still under discussion. Therefore, close monitoring of the disease is required, as well as case-by-case tailored decision on how to manage treatment and when to perform the radical one, taking into account the association of Grave's disease with differentiated thyroid cancer in adults and the higher malignancy of thyroid cancer in childhood.

Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. Autoimmune diseases related to XP are rarely discussed in the literature. Type 1 diabetes (T1D) has been associated with other genodermatoses like Cockayne syndrome, but it has never been described in XP. In the present study, we report the rare occurrence of T1D in XP patients. Five XP patients belonging to 4 consanguineous families originating from different regions of Tunisia were investigated. Their ages ranged between 8 and 18 years. All the patients had a severe hypovitaminosis D. All the patients had positive GAD antibody levels, and 4 of them had familial history of other autoimmune diseases. The spectrum of XP was variable in all the patients, with dermatological and neurological symptoms, and the occurrence of some cancers. Various hypotheses have been proposed to explain this association, among of which we cite the role of immunomodulation and down-regulation of ATP-dependent DNA excision repair protein genes, implying that impaired DNA repair may contribute to the development of some autoimmune diseases. Vitamin D3 deficiency secondary to sun protective measures was found in all patients and thus may play a role in increasing T1D risk in these patients.

Cushing's syndrome is a rare disease in the paediatric age group. Adrenocortical carcinomas (ACC) constitute the most common cause of Cushing's syndrome between 1 and 5 years of age. Often, adrenocortical carcinomas co-secrete other hormones such as androgens (testosterone), deoxy-corticosterone (DOCA), or 17-hydroxy-progesterone [17(OH)P] in addition to cortisol. This may manifest with symptoms and signs of precocious puberty along with Cushing's syndrome. It is rare for a benign adrenocortical adenoma to co-secrete androgens and other hormones in addition to cortisol. Differentiation between adenoma and carcinoma is difficult in all aspects: clinical, radiological, and histopathological. Here, we describe the case of a 2.5-year-old male child who presented with Cushing's syndrome and virilization. Although we suspected ACC clinically, the radiological and histopathological findings were suggestive of benign adrenocortical adenoma. Our case represents the diagnostic challenge that exists in paediatric adrenocortical tumours.