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Androgen insensitivity syndrome (AIS) is one of the most common Disorders of Sexual Differentiation (DSDs). AIS is characterized by an X-linked recessive inheritance pattern associated with variants in the androgen receptor (AR) gene that affects the masculinization process in individuals with XY karyotype. Here, we report a neonatal case of a very early diagnosis of complete AIS due to a novel variant in the AR gene. In the present case, after the clinical evaluation, the infant has undergone the following tests: biochemical analyses, including newborn screening workflow, karyotype analysis, and Next-Generation Sequencing (NGS) panel of 50 genes involved in DSDs. The NGS analysis identified a missense variant, c.2108C>A, in the AR gene. According to a cytogenetic analysis, the patient presented a 46, XY karyotype, thus the resulting hemizygote for the AR gene variant. The variant is not currently described in the literature nor in the ClinVar database. However, according to computational models, the variant could have a pathogenetic effect. This clinical case reveals a novel variant of the AR gene with a possible pathogenetic effect associated with AIS and highlights the importance of a multidisciplinary approach for the timely diagnosis and appropriate follow-up of the patient. [ABSTRACT FROM AUTHOR]

Seasonal variations in glycaemic patterns in children and young adults affected by type 1 diabetes are currently poorly studied. However, the spread of Flash Glucose Monitoring (FGM) and continuous glucose monitoring (CGM) systems and of dedicated platforms for the synchronization and conservation of CGM reports allows an efficient approach to the comprehension of these phenomena. Moreover, the impact that environmental parameters may have on glycaemic control takes on clinical relevance, implying a need to properly educate patients and their families. In this context, it can be investigated how blood glucose patterns in diabetic patients may have a link to outdoor temperatures. Therefore, in this study, the relationship between outdoor temperatures and glucose levels in diabetic patients, aged between 4 and 21 years old, has been analysed. For a one-year period (Autumn 2022–Summer 2023), seasonal variations in their CGM metrics (i.e., time in range (TIR), Time Above Range (TAR), Time Below Range (TBR), and coefficient of variation (CV)) were analysed with respect to atmospheric temperature. The results highlight a negative correlation between glucose in diabetic patients and temperature patterns (R value computed considering data for the entire year; Ry = −0.49), behaviour which is strongly confirmed by the analysis focused on the July 2023 heatwave (R = −0.67), which shows that during heatwave events, the anticorrelation is accentuated. The diurnal analysis shows how glucose levels fluctuate throughout the day, potentially correlating with atmospheric diurnal temperature changes in addition to the standard trend. Data captured during the July 2023 heatwave (17–21 July 2023) highlight pronounced deviations from the long-term average, signalling the rapid effects of extreme temperatures on glucose regulation. Our findings underscore the need to integrate meteorological parameters into diabetes management and clinical trial designs. These results suggest that structured diabetes self-management education of patients and their families should include adequate warnings about the effects of atmospheric temperature variations on the risk of hypoglycaemia and about the negative effects of excessive therapeutic inertia in the adjustment of insulin doses. [ABSTRACT FROM AUTHOR]

Glycemic abnormalities are a frequent finding in pediatric oncological patients, both during treatment and after its discontinuation. Moreover, impaired glucose tolerance (IGT), impaired fasting glycemia (IFG) and diabetes mellitus (DM) are not rarely diagnosed in non-oncological hematological diseases. To explore the current pediatric Italian approach to the diagnosis and the management of the glycemic alterations in this clinical setting and, thus, to identify and enforce current clinical needs, we submitted an online 23-items survey to all the Italian Associazione Italiana Ematologia Oncologia Pediatrica (AIEOP) centers, and surveys were descriptively analyzed. Thirty-nine AIEOP centers were involved in the study. In 2021, among 75278 children and adolescents affected by an oncological or a hematological disease, 1.2 and 0.65% developed DM, while IGT or IFG were widespread in 2.3 and 2.8%, respectively. The main causes of DM were the use of corticosteroids in patients with cancer and the iron overload in patients with thalassemia. Venous fasting plasma glycemia was the most used tool to detect glycemic abnormalities. The performance of oral glucose tolerance test (OGTT) was extremely limited, except when IFG occurred. Despite the diagnosis of DM, ∼45% of patients with cancer and 30% of patients with one hematological disease did not receive an appropriate treatment. In the other cases, insulin was the drug of first choice. Emerging technologies for diabetes care (glucose sensors and insulin pumps) are not largely used yet. The results of our study support the standardization of the care of the glycemic abnormalities during or after onco-hematologic diseases in the pediatric age. Despite the scarce data in pediatric literature, proper guidelines are needed. [ABSTRACT FROM AUTHOR]