Pediatric Endocrinology, Diabetes and Metabolism最新文献

Introduction: Adrenocortical carcinoma (ACC) is a rare malignancy in children. Because of this, each patient with suspected ACC requires individualised management, which should be determined at a meeting of a team of multidisciplinary experts in the field.

Aim of the study: To summarise data on symptoms, genetic predisposition, and diagnostic procedures for ACC in children.

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

Results: Most cases of ACC in children occur under the age of 5 years. The most common presenting symptom in 60-80% of paediatric patients is rapidly progressive virilisation. Diagnostics are based on laboratory and imaging evaluation. The mainstay of treatment is surgery, with laparotomy being the preferred method of surgery. Diagnosis is based on histological examination of surgically removed tissue. The Wieneke index is most commonly used in paediatric practice. However, some cases are still classified as "indeterminate histology". Predisposing genetic factors are found in most children with ACC, most commonly a mutation of the TP53 gene.

Conclusions: Patients should be diagnosed in large clinical centres with experience in this field. The treatment strategy should be individualised. Genetic testing for TP53 gene mutations is indicated in patients with ACC.

Types diabetes other than type 1 are generally considered rare in children and adolescents. The incidence of type 2 diabetes has increased dramatically over the past decade in some ethnic groups. The increased incidence of this type of diabetes mellitus has corresponded tem-porally to unprecedented increases in body weight and obesity prevalence in adolescents in various ethnic populations. Early treatment of insulin resistance is important to prevent the development of diabetes. In therapy, lifestyle modification is essential for weight loss, and if this is not enough, pharmacotherapy is required. Maturity-onset diabetes of the young (MODY), another type of insulin-dependent diabetes, is characterised by early onset and autosomal dominant inheritance. MODY is mainly caused by β-cell defects, resulting in insufficient insulin secretion for a given blood glucose level. Unlike non-insulin-dependent diabetes in youth (NIDDM-Y), there is no significant increase in insulin resistance. The purpose of this article is to characterise and present types of diabetes other than type 1 found in the young population.

Hyponatraemia, defined as sodium concentration below 135 mmol/l, is one of the most common electrolyte imbalances. Differential diagnosis of hyponatraemia is difficult. We describe 3 cases of children with transient, severe hyponatraemia (< 125 mmol/l). While diagnosing hyponatraemia, it is of major importance to carefully ask in the anamnesis about habits related to the amount of fluid intake and the type of consumed fluids. It should also be noted that a frequent procedure during an infection is to increase fluid ingesting as a prevention of dehydration. One, however, should remember about the possibility of inducing water poisoning in a patient consuming excessive amounts of hypotonic fluids, especially when exposed to non-osmotic antidiuretic hormone stimulus, such as an acute infection or stress, and/or reduced renal excretory capacity. Only the presence of polyuria does not justify a diagnosis of arginine vasopressin deficiency (AVP-D), and especially the implementation of desmopressin treatment before all diagnostic procedures are completed, specifically in the case of hyponatraemia. Desmopressin can be used simultaneously with intravenous 3% saline solution only in the treatment of a very severe hyponatraemia, to avoid overcorrection of natraemia. In patients after profound hyponatraemia, polyuria can be observed after normalisation of fluid intake, but it is temporary.

Introduction: Adrenocortical carcinoma (ACC) is rare and an aggressive tumour. Mitotane is the mainstay adjuvant drug in treating ACC. The study aimed to describe patients diagnosed with precocious puberty (PP) and other endocrinological complications during mitotane therapy.

Material and methods: This retrospective study enrolled 4 patients with ACC treated with mitotane therapy complicated by PP. We analysed clinical manifestations, radiological, histopathological findings, and hormonal results.

Results: The median age at the diagnosis of ACC was 1.5 years. All patients were treated with surgery and mitotane, accompanied by chemotherapy regimens in 2 cases. The median time from surgery to the initiation of mitotane therapy was 26 days. During mitotane treatment, PP was confirmed based on symptoms, and hormonal and imaging tests. In one patient, incomplete peripheral PP was followed by central PP. The median time from the therapy initiation to the first manifestations of PP was 4 months. Additionally, due to mitotane-induced adrenal insufficiency, patients required a supraphysiological dose of hydrocortisone (HC), and in one patient, mineralocorticoid (MC) replacement with fludrocortisone was necessary. In 2 patients, hypothyroidism was diagnosed. All patients presented neurological symptoms of varying expression, which were more severe in younger children.

Conclusions: The side effects of using mitotane should be recognized quickly and adequately treated. In prepubertal children, PP could be a complication of therapy. The need to use supraphysiological doses of HC, sometimes with MC, should be highlighted. Some patients require levothyroxine replacement therapy. The neurotoxicity of mitotane is a significant clinical problem.

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.

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.

Objectives: To describe medullary thyroid cancer (MTC) onset in a boy affected previously by Langerhans cell histiocytosis (LCH) and review the literature for other reports of this association.

Case presentation: A 6-year-old boy was treated for LCH diagnosis when he was 4 years old. After treatment, a rise in procalcitonin levels was observed (2.36-2.78 ng/ml) initially interpreted as inflammatory response. Further procalcitonin increase (4.61 ng/ml) with cervical lymphadenopathy and no infective focus was suspicious of thyroid involvement, confirmed by ultrasound, serum calcitonin, and cytological diagnosis. Total thyroidectomy with bilateral lymph node exeresis was performed. RET gene analysis revealed p.Met918Thr mutation. No association between the previous LCH and MTC had been identified to date.

Conclusions: MTC is a rare condition in childhood presenting with an aggressive behaviour. It becomes crucial to increase the awareness of its features and anticipate diagnosis. Therefore, persistent high levels of pro-calcitonin without infective/inflammatory focus should lead to suspicion of thyroid involvement.