Search Results (193)

Background/Objectives: Mitotane is a key component in the treatment of adrenocortical carcinoma (ACC), but its endocrine side effects in children remain under-characterized. Methods: We conducted a retrospective analysis of 11 pediatric patients (6 males, 5 females) diagnosed with ACC and followed between 2000 and 2025. Seven received mitotane therapy. Data included age at diagnosis, treatment duration and dosage, serum mitotane levels, and endocrine complications. Results: The mean age at diagnosis was 6.6 ± 1.45 years, with a mean follow-up of 10.05 ± 2.45 years. Patients received mitotane for an average of 2.5 ± 0.54 years, with a mean daily dose of 2805.5 ± 145.82 mg and a mean serum level of 16.1 ± 5.92 mg/mL. All mitotane-treated patients developed adrenal insufficiency, requiring supraphysiological hydrocortisone replacement. Four also required mineralocorticoid therapy. Five developed precocious puberty; two males presented with prepubertal gynecomastia; three females were managed with GnRH analogs or aromatase inhibitors followed by estrogen receptor antagonists. Four patients developed central hypothyroidism, treated with levothyroxine. A positive correlation was found between mean serum mitotane levels and the onset of precocious puberty (p = 0.04), while mitotane levels correlated negatively with the development of central hypothyroidism (p = 0.001). Conclusions: Mitotane therapy in pediatric ACC is strongly associated with significant endocrine dysfunction. These findings emphasize the need for proactive, multidisciplinary endocrine management throughout treatment. Full article

Background: The education process for newly diagnosed Type 1 diabetes mellitus (T1D) patients and their families, primarily led by diabetes specialist nurses, is essential for gaining knowledge about the disease and its management. However, few assessment tools have been employed to evaluate long-term knowledge retention among T1D patients years after diagnosis. Methods: We developed a 20-question test to assess the knowledge of patients and their families at the conclusion of the initial education process and again 6–12 months later. Demographic and clinical data were also collected. Statistical analyses included comparisons between the first and second test results, as well as evaluation of potential contributing factors. The internal consistency and construct validity of the questionnaire were evaluated. Results: Forty-four patients completed both assessments, with a median interval of 11.5 months between them. The average score on the first test was 88.6, which declined to 82.7 on the second assessment (p < 0.001). In univariate analysis, factors positively associated with higher scores included Jewish ethnicity, lower HbA1c levels, and shorter hospitalization duration. Multivariate analysis revealed that parents had lower odds of experiencing a significant score decline compared to patients. Cronbach’s alpha was 0.69, and Principal Component Analysis (PCA) identified eight components accounting for 67.1% of the total variance. Conclusions: Healthcare providers should consider offering re-education to patients and their families approximately one year after diagnosis, with particular attention to high-risk populations during the initial education phase. Further studies are needed to examine this tool’s performance in larger cohorts. Full article

Introduction: Obesity is a rapidly increasing condition that leads to serious health issues. The sense of smell, one of the oldest senses related to energy metabolism, has been increasingly studied in relation to obesity. Objective: This study investigates the impact of childhood obesity on the volumes of the olfactory bulb and pituitary gland, exploring the relationship between body mass index and these brain structures. Method: This study included 146 participants aged 6–18 years with different body mass indices between 2021 and 2024 at Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey. Participants were classified into normal weight, obese, and morbidly obese groups, and olfactory bulb and pituitary gland volumes were retrospectively analyzed. MRI scans were performed to exclude intracranial pathologies due to headache complaints, and patients with cranial pathologies were excluded from the study. Results: This study examined the olfactory bulb and pituitary gland volumes among normal weight, obese, and morbidly obese groups aged 6–18 years. In the morbidly obese group, right olfactory bulb area and right olfactory bulb volume were significantly higher compared to the other groups, while left olfactory bulb area was higher in both the obese and morbidly obese groups. Additionally, in the morbidly obese group, pituitary height was significantly lower than the other groups, and pituitary volume was also found to be reduced in morbid obesity. Conclusions: This study demonstrated that childhood obesity is linked to significant changes in the volumes of the olfactory bulb and pituitary gland. In morbidly obese children, an increase in pituitary volume and alterations in olfactory bulb volume suggest possible neuroanatomical adaptations. Full article

Background: Differences of sex development (DSD) are a group of congenital conditions characterized by atypical development of genital structures. The diagnosis is complex and involves clinical, hormonal, and genetic evaluations. Objective: To describe the clinical profile, diagnosis, and management of patients with DSD, with particular attention to genetic diagnosis. Study design: Retrospective study from a tertiary care pediatric hospital in Italy. Methods: 420 patients with DSD referred to the Endocrine Unit of Bambino Gesù Children’s Hospital in Rome, Italy, between 2016 and 2023 were included. Results: 75 patients had a 46,XY karyotype, 135 had a 46,XX karyotype, and 210 had chromosomal mosaicism. In our group of pediatric DSD patients, 21/420 patients were born from pregnancies induced with assisted reproduction techniques (ICSI/FIVET). Of these 21 patients, 5 had sex chromosome mosaicism. Using next-generation sequencing (NGS), we identified three new genetic variants: one in the AR gene, one in the NR5A1 gene, and one in the SRY gene. The use of NGS significantly improved the diagnostic yield, and a definitive diagnosis was reached in 84.76% of the entire cohort. Conclusions: This study highlights the challenges in the management of patients with DSD from early recognition to treatment and follow-up. A multidisciplinary approach is essential for a comprehensive evaluation of these conditions and to understand the role and clinical significance of the genetic variants. Full article

Background/Objectives: Effective diabetes self-management is critical for glycemic management and well-being, yet Latino youth face unique cultural and socioeconomic barriers that are insufficiently explored in the literature. This review mapped existing evidence on diabetes self-management for Latino youth. Methods: Searches were conducted in PubMed, CINAHL, SCOPUS, Web of Science, LILACS, ERIC, and The Cochrane Library, using the gray literature and reference lists, in September 2024, following JBI guidelines. The included studies were qualitative, quantitative, and mixed-methods studies and reviews on diabetes self-management for Latinos aged 0–30 with type 1 or 2 diabetes. Studies including participants over 30 or with gestational diabetes were excluded. Two reviewers independently extracted data using a standardized table and analyzed findings using the Association of Diabetes Care & Education Specialists framework (ADCES7) for self-care behaviors: healthy eating, being active, monitoring, taking medication, problem-solving, reducing risks, and healthy coping. Results: Forty-five studies (forty from the United States) were included from 860 citations. The findings highlighted challenges in adopting diabetes-friendly diets, including cultural preferences, food insecurity, and limited resources. Physical activity improved glycemic control but was hindered by family and school obligations. Continuous glucose monitoring (CGM) enhanced outcomes, though economic barriers limited access. Family-centered education improved medication adherence, while family support strengthened problem-solving. CGMs and insulin pumps reduced complications, and culturally adapted psychological support enhanced emotional well-being and glycemic management. Conclusions: This review underscores persistent disparities in diabetes self-management among Latino youth. While the study designs and settings were heterogeneous, the findings highlight the need for culturally tailored, family-centered interventions that address structural barriers and psychosocial needs to improve care. Full article

Idiopathic short stature (ISS) represents one of the most frequent yet enigmatic conditions in pediatric endocrinology. Traditionally defined by auxological parameters in the absence of identifiable causes, ISS has long served as a diagnosis of exclusion. However, with the advent of next-generation sequencing, our understanding of the etiological landscape has significantly evolved. Recent studies have revealed that many children previously labeled as idiopathic actually harbor monogenic variants in genes related to the growth hormone–insulin-like growth factor axis, extracellular matrix components, or growth plate signaling pathways. This review integrates auxological assessment with current knowledge on molecular diagnostics to propose a more accurate and individualized approach to short stature. We examine emerging genotype–phenotype correlations, criteria for selecting candidates for genetic testing, and implications for recombinant human growth hormone therapy. Additionally, we advocate for a shift in clinical mindset: from a descriptive to a biologically grounded framework. ISS should be regarded as a transitional label pending further endocrine and genetic clarification. Recognizing this paradigm shift will improve diagnostic accuracy, personalize treatment strategies, and ultimately enhance care for children with growth failure in the genomic era. Full article

Background/objectives: This study addresses two questions: what body sizes/shapes do participants believe correspond to the boundaries of the National Child Measurement Programme (NCMP) weight categories for children aged 4–5 and 10–11 years old, and are these judgements altered by using terminology encouraging positive action by parents? Methods: The study used photorealistic computer-generated stimuli based on 388 3D scans of children in a method of adjustment task. We first asked participants to estimate the boundaries between weight status categories as described by the NCMP. To test validity, we asked a second set of participants to estimate the body that represented exemplars of each weight category (the exemplars should fall between the boundary estimates). We then recruited a third set of participants to determine whether substituting positive action terminology for the weight status definitions altered the boundary positions. Results: First, validity was confirmed. Second, we found a compressed response range (lower weights overestimated and higher weights underestimated) for the positioning of both categorical boundaries and exemplars. Finally, the use of alternative weight status terminology resulted in an upward shift in the position of all boundaries in the BMI spectrum but failed to remove the compressive stimulus response effect. Discussion: There is a disconnect between the child size that people perceive to correspond to the different weight categories and the size criteria used by health professionals, and it is likely that this gap can only be bridged by training to recognise the medically based categories. Full article

Background: Sociodemographic status, dietary intake, and physical activity have been linked to body mass index (BMI) among adolescents. However, there is a scarcity of research investigating these factors in relation to BMI standard deviation score (BMI_SDS) in Saudi Arabia. Therefore, we examined the roles of sociodemographic status, dietary habits, and physical activity in relation to body mass index among Saudi female adolescents aged 11–18 years attending public and private schools in the city of Jeddah. Methods: This school-based cross-sectional study was performed between February and April 2019 in Jeddah. A total of 920 female adolescent students were recruited from both public and private schools. Data was collected using questionnaires conducted via interview as well as anthropometric measurements. Results: About 37.4% (n = 344) of the participants were overweight or obese. The majority of the participants (61.6%, n = 567) had a healthy dietary intake score. More than half of the participants (52.6%, n = 484) had a low physical activity and screen time score, with 36.5% (n = 336) never engaging in ≥60 min of physical activity per day and 61.4% (n = 565) reporting a daily screen time of >4 h. Multivariate logistic regression analysis revealed that students aged over 16 years were less likely to have overweight/obesity compared to those aged <14 years (adjusted odds ratio “aOR” = 0.53; 95% CI: 0.35–0.79, p = 0.002). Participants enrolled in private schools were at higher risk of being overweight/obese compared to those enrolled in public schools (aOR = 1.55; 95% CI: 1.16–2.08, p = 0.003). Adolescent females with daily vegetable intake were less likely than those who never consumed vegetables to be overweight or obese (aOR = 0.47; 95% CI: 0.29–0.77, p = 0.002). However, no associations were found with the other sociodemographic, dietary intake, physical activity, and screen time exposure variables. Conclusions: This study shows a trend of elevated obesity prevalence among Saudi female adolescents in Jeddah, highlighting the need for gender-sensitive, school- and community-based interventions targeting diet, physical activity, and sedentary behavior. To obtain a more comprehensive understanding, studies involving nationally representative samples, encompassing all cities across Saudi Arabia and exploring broader aspects of nutrition and physical activity, are essential. Full article

Background/Objectives: Childhood overweight/obesity status is a critical risk factor for adverse cardiometabolic outcomes. We aimed to evaluate the sex-specific associations between a maintained childhood overweight status and late-adolescent cardiometabolic risk factors using data from a Korean longitudinal study. Methods: We used data from the Korean Children-Adolescents Study, a prospective cohort of children enrolled at age 7 and followed annually from 2005 to 2020. Among participants who were followed at least once, a total of 899 children (438 boys, 461 girls) with consistent body mass index (BMI) status at ages 7–9 and 10–12 were included in the analysis. Participants were categorized into two groups on the basis of BMI: normal weight maintenance and overweight maintenance. Multivariable linear regression was used to examine the associations between BMI patterns and cardiometabolic risk factors, with adjustments for covariates. Results: Among the 899 children (mean age: 7.1 ± 0.4 years, 48.7% boys), 12.8% of boys and 5.9% of girls were classified into the overweight maintenance group. Boys in the overweight maintenance group had significantly greater BMIs, waist circumferences (WC), body fat percentages, trunk fat mass, and aspartate aminotransferase and alanine aminotransferase levels at ages 15 and 18. Girls in the same group had elevated BMI, WC, body fat percentage, trunk fat mass, and blood pressure and experienced earlier pubertal onset. Conclusions: Maintaining an overweight status during childhood is associated with adverse cardiometabolic profiles in adolescence, with sex-specific differences. These findings highlight the importance of early, sex-specific interventions to prevent long-term health risks associated with childhood obesity. Full article

Background/Objectives: To evaluate the effect of triptorelin on final height of girls with precocious or early puberty, compared to the untreated group, and to investigate factors that contribute to its maximum effectiveness in terms of final height. Methods: We collected for the last two decades the data of patients evaluated in our Pediatric Endocrinology Clinic for precocious (PP) (thelarche before 8 years of age) or early puberty (EP) (thelarche before 9 years of age) during the last two decades. Our final set included 178 girls (85 with precocious and 93 with early puberty, of whom 85 received triptorelin). Final heights, measured and documented by health professionals, and the exact date of menarche were collected after telephone communication. Logistic regression analysis assessed the effect of various parameters on the response to treatment. Results: Τhe difference in mean standard deviation (ΔSDS) of final and midparental height did not show significant difference between treated and untreated girls (ΔHeight SDS (Final − Midparental): −0.20 ± 0.89 vs. −0.28 ± 0.83, p = 0.243). The results were similar when we compared the EP (−0.22 ± 0.71 vs. −0.17 ± 0.83, p = 0.778) and PP (−0.19 ± 1.04 vs. −0.39 ± 0.83, p = 0.315) subgroups. Menarche occurred earlier in the PP group compared to the EP group (10.68 ± 1.22 vs. 11.12 ± 0.90 years, p = 0.005) and in the untreated compared to the treated group (10.31 ± 0.91 vs. 11.57 ± 0.06 years, p < 0.001 for EP, 11.53 ± 0.90 vs. 9.86 ± 0.86 years, p < 0.001 for PP). Predictors of final height were height at diagnosis (positively correlated), midparental height, and bone age at diagnosis (negatively correlated). Conclusions: There was no significant difference in final height between treated and untreated girls. Triptorelin was effective in delaying the onset of menarche. Factors contributing to a better final height in treated girls were higher height at baseline, lower midparental height, and younger bone age. Full article

Background/Objectives: This study assesses the prevalence of diabulimia in Greek children and adolescents with Type 1 Diabetes Mellitus (T1DM) by using the Diabetes Eating Problem Survey—Revised (DEPS-R) questionnaire and addresses a gap in the literature on eating disorders (EDs) and disordered eating behaviors (DEBs) in this population. The DEPS-R threshold score of ≥20, although originally established in international studies, has also been applied in Greek adult validation studies. However, it has not yet been formally validated in Greek youth. Methods: Participants aged 9–18 years, diagnosed with T1DM a minimum of one year before the start of the study, were recruited from three pediatric departments in Thessaloniki and were asked to complete the Greek version of the DEPS-R questionnaire. Appropriate statistical analysis was employed to investigate the association of the DEPS-R score with anthropometric, demographic, and glycemic variables derived from the clinical assessment and the patient’s medical records. Results: Girls had significantly higher DEPS-R scores compared with boys. Significant positive associations were observed between the DEPS-R score and both age (r = 0.212, p = 0.020) and Body Mass Index (BMI) (r = 0.419, p < 0.001). A significant association with Glycated Hemoglobin (HbA1c) (r = 0.182, p = 0.047) suggested that poorer glycemic control may be linked to disordered eating, although no significant associations were identified with physical activity or type of insulin therapy. Conclusions: Older age, higher Body Mass Index (BMI) and elevated Glycated Hemoglobin (HbA1c) levels are associated with increased risk of disordered eating in youth with T1DM, especially in girls. Therefore, the implementation of early screening and targeted interventions is imperative. Full article

Introductions: Precocious puberty initiated at a very young age causes a severe loss in height potential and should be treated with gonadotropin-releasing hormone agonists (GnRHa). Controversial findings exist regarding the efficacy of GnRHa treatment in girls with central precocious puberty (CPP) onset around the age of 8. This research assessed the impact of GnRHa treatment on the final height (FAH) of 117 girls diagnosed with CPP within this age group. Methods: This retrospective study included 117 CPP girls diagnosed at around age 8 (7–9 years old). Girls who started treatment between the ages of 8 and 9 (n = 71) and 7 and 8 (n = 46) were divided into groups 1 and 2, respectively. Predicted height (PAH), target height (TH), and FAH were calculated from medical records. Girls’ PAH, TH, and FAH were also compared between groups. Results: At beginning of treatment, the girls’ average ages were 8.59 ± 0.27 in group 1 and 7.50 ± 0.47 in group 2. In groups 1 and 2, GnRHa therapy durations were 1.97 ± 0.54 and 2.91 ± 0.61, respectively. There were no significant differences in TH (160.53 ± 5.49 vs. 160.57 ± 4.94), PAH (158.72 ± 5.23 vs. 158.35 ± 5.57), and FAH (162.42 ± 5.32 vs. 162.14 ± 5.70) between groups. FAH improved 4 cm from PAH in both (p = 0.001). Multivariate linear regression analysis showed that baseline height SDS was the main FAH predictor (Beta: 0.572, p = 0.001). Conclusions: GnRHa may improve FAH even if the treatment is delayed after age 8. However, as this improvement is limited for this age group, the therapy option should be individualized and should not be considered for all children. Full article

Background: As the first approved GnRH agonist, leuprorelin is distinguished by its broad application in managing central precocious puberty (CPP). Despite the extensive use of leuprorelin in CPP management, uncertainties still persist regarding its long-term efficacy and safety. We conducted a systematic review and meta-analysis to assess the long-term efficacy and safety of leuprorelin treatment in children with CPP. Methods: We conducted electronic searches in PubMed, Embase, and the Cochrane Library up until 15 November 2023. All relevant studies concerning leuprorelin treatment in children with CPP were included. Results: The final adult height of children with CPP eventually reached the target height, with a significant difference of MD: 1.75 cm (95% CI: 0.46–3.03). The MD in BMI standard deviation score between baseline and post-leuprorelin treatment was −0.03 (95% CI: −0.28–0.22). For the onset of menstrual puberty, the MD between children with CPP who received leuprorelin treatment and those who did not was 0.73 years latency (95% CI: −0.74–2.20) without significant difference. The timing of menstrual puberty of the leuprorelin-treated group was 15.83 months (95% CI: 11.62–20.03) after the discontinuation of leuprorelin treatment. The proportion of menstrual regularity was 85% (95% CI: 75–91%), and the average incidence rate of polycystic ovary syndrome (PCOS) was 8% (95% CI: 3–22%) for children with CPP that treated with leuprorelin. Conclusions: Leuprorelin treatment does not affect BMI or the onset of menstrual puberty in the long term, but has positive effects on adult height for children with CPP. Moreover, no severe adverse events related to leuprorelin treatment were observed. Full article