Pediatric Endocrinology Clinic Research Articles

Celiac disease autoimmunity among Nigerian children and adolescents with type 1 diabetes mellitus.

Celiac disease (CD) affects the small intestine and can hinder nutrient absorption. It is found worldwide and common in certain groups of people including individuals with Type 1 Diabetes Mellitus (T1DM). However, the prevalence of CD in the West African region is not documented. This study aimed to investigate the prevalence and pattern of CD autoimmunity in Nigerian children and adolescents diagnosed with T1DM. This was a cross-sectional descriptive study of children and adolescents with T1DM at the Paediatric Endocrinology Clinic of seven selected tertiary health facilities in Nigeria. Information was collected on socio-demographics, clinical characteristics and anthropometrics. The subjects were screened for markers of CD autoimmunity using anti-tissue transglutaminase antibody (tTG) and anti-endomysial antibody (EMA). Endoscopy and duodenal biopsy were recommended for participants with elevated CD-specific antibodies. The study recruited a total of 104 children and adolescents with TIDM, out of which six participants (5.8%) had CD autoimmunity. All six participants were females, aged between 3 and 12 years, with a mean age of 9.2 ± 3.7 years. Participants with CD autoimmunity were more likely to have DM diagnosed before the age of 10 years compared to those without CD autoimmunity (83.3% vs. 37.7%, p = 0.149). Except for two participants, all individuals with CD autoimmunity experienced gastrointestinal symptoms such as nausea, vomiting, diarrhoea, and bloating. This study highlights the occurrence of CD autoimmunity in Nigerian children and adolescents with TIDM. Healthcare providers should consider screening for celiac disease in children and adolescents with T1DM, particularly in females and when gastrointestinal symptoms are present. Additionally, the findings from this study suggest that there is a high probability of a significant burden of CD, even within the general population in Nigeria. Therefore, it's important to maintain a high level of suspicion and to actively screen at-risk groups in clinical settings to ensure early diagnosis of CD.

Lysosomal Acid Lipase Deficiency Investigation In Patients Diagnosed With Primary Hyperlipidemia

Objective: Cholesteryl ester storage disease (CESD) is a disease where a considerable decrease in the activity of lysosomal acid lipase (LAL) enzyme resulting from the mutation in lipa (lysosomal acid lipase) gene is observed, which goes along with dyslipidemia and involves a wide clinical condition ranging from hepatosteatosiz to liver fibrozis; and whose diagnosis is usually skipped. LAL deficiency should be taken into consideraiton for patients who are suffering from hepatosplenomegaly and/or high transaminase level, high ldl and/or low hdl without having problems of obesity or metabolic syndrome. Methods: Our study included 75 patients who applied to Gaziantep University Faculty of Medicine Pediatric Endocrinology and Metabolic Diseases Clinic, 35 patients were excluded out of study because of having secondary hyperlipidemia, 15 patients were diagnosed with non-familial hyperlipidemia, and 25 patients were diagnosed with familial hyperlipidemia. Patients were divided into three groups according to phenotypes; type 2, type 3 and type 5, at the same time patients were divided into three groups according to the treatment as applying lipid aferesis, lipid lowering treatment and dieting, and only dieting group. Gender, age, height, weight, height standard deviation score, weight standard deviation score, follow-up period, complaints, relative body weight were recorded. Lipid profiles, transaminase levels, complete blood count, hormone profiles, bone densitometry (DEXA), echocardiography and LAL enzyme profiles of patients were evaluated. Blood samples were taken to filter paper from totally 40 patients; 15 patients with non-familial hyperlipidemia to eveluate LAL activity and also the same samples were taken from 15 patients with primary hyperlipidemia and 25 patients with familial hyperlipidemia to eveluate LAL levels. Results: We determined the LAL enzyme levels at the normal reference ranges in all of 40 patients with primary hyperlipidemia. Conclussion: In our study there was no relationship between familial hyperlipidemia and lal levels but we think results must be eveluated with the larger number of patients.

Feasibility and Acceptability of a Self-Guided Digital Family Skills Management Intervention for Children Newly Diagnosed With Type 1 Diabetes: Pilot Randomized Controlled Trial.

Family dynamics play an important role in determining the glycemic outcomes of type 1 diabetes (T1D) in children. The time interval immediately following T1D diagnosis is particularly stressful for families, and interventions to support families in adjusting their family practices to support adjustment to and management of T1D in the months following diagnosis may improve glycemic outcomes. Self-guided digital interventions offer a sustainable model for interventions to support caregivers in learning evidence-based family management skills for adjustment to and management of T1D. We hypothesized that a self-guided, web-based, family skills management program (addressing caregiver social support as well as family problem-solving, communication, and supportive behavior change strategies) initiated at the time of T1D diagnosis would improve glycemic outcomes in children with T1D. In this study, we report on the feasibility and acceptability of this program. We prospectively evaluated a sample of 37 children newly diagnosed with T1D recruited from a pediatric endocrinology clinic. Parent participants were asked to complete web-based modules addressing social support, family problem-solving, communication, and supportive behavior change strategies. Module completion was analyzed for percentage completion, patterns of completion, and differences in completion rates by coparenting status. Qualitative open-ended feedback was collected at the completion of each module. A total of 31 (84%) of the 37 participants initiated the web-based program. Of those 31 participants, 25 (81%) completed some content and 15 (48%) completed all 5 modules. Completion rates were higher when coparenting partners engaged in the intervention together (P=.04). Of the 18 participants given a choice about the spacing of content delivery, 15 (83%) chose to have all sessions delivered at once and 3 (17%) chose to space sessions out at 2-week intervals. Qualitative feedback supported the acceptability of the program for delivery soon after T1D diagnosis. Families reported on positive benefits, including requesting future access to the program and describing helpful changes in personal or family processes for managing T1D. In this study, we found that a self-guided digital family support intervention initiated at the time of a child's T1D diagnosis was largely feasible and acceptable. Overall, rates of participation and module completion were similar to or higher than other self-guided digital prevention interventions for mental and physical health outcomes. Self-guided digital programs addressing family management skills may help prevent challenges common with T1D management and can decrease cost, increase access, and add flexibility compared to traditional interventions. ClinicalTrials.gov NCT03720912; https://clinicaltrials.gov/study/NCT03720912.

7978 Metabolic Outcomes in Transgender Youth Receiving Affirming Hormonal Therapy

Abstract Disclosure: M. Salama: None. R. Basmaci: None. T. Rajjo: None. O. Chuzhyk: None. A.N. Lteif: None. A. Al Nofal: None. Objective: Heightened societal acceptance of transgender youth and increased awareness of their unmet medical needs have led to a rise in referrals for hormonal therapy. There is limited literature available on the metabolic outcomes of hormone therapy on transgender youth. We investigated how the different metabolic markers of cardiovascular disease change after the initiation of gender-affirming hormonal therapy in transgender adolescents. Methods: A Retrospective, observational cohort study based on chart review of all children with gender dysphoria (under 18 years of age) who were evaluated in the Pediatric Endocrinology Clinic in a tertiary care center between January 2015 and December 2022. Children's demographic information, baseline weight, height, BMI, hematocrit, lipid profile, ALT, prolactin, and HbA1C levels were obtained before and after the initiation of gender-affirming hormonal therapy. The Wilcoxon signed-rank test was employed for paired analysis, while the chi-square test was used as appropriate. Results: We identified 106 transgender youth who were included in the analysis, with a median age at the start of hormonal therapy of 16 years (IQR: 15-17); comprising 68 trans-males (64%) and 38 trans-females (36%). The median treatment duration was 34 months (IQR: 18-54). Among trans-males, ALT levels increased post-treatment (mean difference 6.851 U/L, p < 0.001), as did BMI Z scores (mean difference 0.257, p < 0.001) and LDL-C (mean difference 12.734 mg/dl, p = 0.002), triglycerides (mean difference 10.18 mg/dl, p = 0.009), non-HDL-C (mean difference 12.8 mg/dl, p = 0.002), and total cholesterol (mean difference 10.18 mg/dl, p = 0.02). No significant differences were observed in HbA1C and HDL-C post-treatment. Among transfemales, BMI Z-scores were higher post-treatment (mean difference 0.27, p = 0.007), with increased total cholesterol (mean difference 19.88 mg/dl, p = 0.008), LDL-C (mean difference 12.6 mg/dl, p = 0.02), and HDL-C (mean difference 11.38 mg/dl, p < 0.001). Other variables did not significantly differ pre-and post-treatment. Ten transfemales with measured prolactin levels pre- and post-treatment showed no statistically significant differences. Conclusion: This pilot study revealed increased BMI Z scores following the commencement of hormone therapy in both trans-male and trans-female youths. Moreover, masculinizing treatment led to increased ALT levels. Furthermore, the cardiometabolic profile exhibited diverse alterations, particularly higher LDL-C levels in both cohorts. These findings underscore the necessity for close monitoring of these parameters during the treatment of transgender youth. Larger prospective randomized controlled trials are essential to comprehensively assess the impact of gender-affirming therapy on transgender youth. Presentation: 6/2/2024

8401 Genetic Characterization of a Case of Primary Aldosteronism in an 11-Year-Old Girl carrying a Germline VUS of CACNA1H and a Somatic Mutation of CTNNB1

Abstract Disclosure: S. Parisien-La Salle: None. G. Van Vliet: None. G. Corbeil: None. M. Labrecque: None. M. Tétreault: None. I. Bourdeau: None. Introduction: Primary aldosteronism is a frequent cause of secondary hypertension in adults but is rare in children. We report the case and genetic studies of an 11 yo girl presenting with primary aldosteronism at puberty. Case presentation: An 11-year-old female patient was referred to the pediatric endocrinology clinic for hypertension (166/118). Her past medical history and family history were unremarkable. She reported polyuria, polydipsia and occasional headaches and abdominal pain. Her Tanner stage indicated that puberty was initiated (P2M2). An abdominal CT revealed a 9x10x11cm right adrenal mass with calcifications and a necrotic zone. On [1]8F-FDG PET/CT, the mass had an uptake of 2.9 SUVmax. Laboratory results revealed hypokalemia (K: 2.6 mmol/L [N: 3.5-4.5]) and elevated aldosterone (1712.8 pmol/L [N: 110-1330]) with suppressed renin (0.2 ng/ml/h [N: <5.3]). Her urinary aldosterone level was elevated (114 nmol/day [N: <67]). The rest of the biochemical adrenal panel was normal. Patient underwent a right adrenalectomy by laparotomy. The pathology report showed an adrenal tumor without capsular or vascular invasion. The only malignancy criterion was an area of necrosis and the ki-67% proliferation index was < 1%. Genetic investigations: After informed consent, the patient underwent germline analysis for the chimeric gene CYP11B2/CYP11B1 (Ruhr University Bochum, Germany) and a multigene panel including KCNJ5, CACNA1D, CACNA1H and CLCN2 genes (Fulgent, CA), which were both negative except for a variant of unknown significance (VUS) that was identified in CACNA1H (c.3868G>A, p.Val1290Ile) with a minor allele frequency of 3.291E-5 (GnomAD). Tumor DNA was extracted after adrenalectomy from fresh frozen tissues. Somatic genetic analysis of GNAS, CTNNB1, KCNJ5, ATP1A1, ATP2B3 and CACNA1D was performed using direct Sanger Sequencing (Genome Quebec Innovation Centre) and revealed a heterozygous missence pathogenic variant in the CTNNB1 gene (c.121 A>G p.Thr41Ala). This mutation was absent in leukocyte DNA of the patient. Immunohistochemistry of the adrenal tumor disclosed strong cytoplasmic β-catenin staining in most tumor cells (monoclonal anti-β-catenin antibody; BD Transduction Laboratories). RNA-sequencing of patient tumor RNA was performed (Research Center CHU Québec) and compared to human adrenal total RNA (Clontech, Mountain View, CA). Pathway enrichment analysis showed activation of the Wnt signaling pathway. No variant was identified in GNAQ or GNA11 genes. However, GNRHR was upregulated compared to the control sample with a log2 fold change of 3.96 (p=0.000074). Conclusion: We present a rare pediatric case of an aldosterone producing adenoma harbouring a somatic β-catenin pathogenic variant with upregulation of GNRHR. The implication of the germline CACNA1H VUS still needs to be clarified. Presentation: 6/3/2024

7063 Serum Alkaline Phosphatase Level as a Marker for Progressive Central Precocious Puberty

Abstract Disclosure: V.M. Figueredo: None. T. Seeherunvong: None. Background: Precocious puberty is typically associated with a speed up in growth, risk of premature growth plate closure and reduced adult height. Serum alkaline phosphatase (ALP) is a biochemical indicator of bone turnover and studies have shown greater serum ALP levels in pubertal individuals compared to prepubertal controls. We examined serum ALP levels among children with various form of early puberty. We investigated whether serum ALP levels were significantly different between children with premature thelarche or premature adrenarche compared to those with central precocious puberty (CPP). Methods: We conducted a retrospective chart review of patients with early pubertal development attending a pediatric endocrinology clinic between 2017 and 2023. Information on height, weight, serum ALP levels and bone age was obtained. Patients were considered to have CPP based on the results on a GnRH test. Patients with diagnosis of premature adrenarche or premature thelarche were included as controls. This study was approved by Institutional Review Board (IRB). Analysis of data was performed using IBM SPSS Statistics version 29.0.1.0 (171). Results: Among 72 patients included in the study, 22 patients had progressive CPP whereas 50 patients had premature adrenarche or premature thelarche. The prevalence of abnormally elevated serum ALP levels was greater among patients with CPP (22.7%) than among patients with premature adrenarche or premature thelarche (6%). Using logistic binomial regression analysis, serum ALP levels were significantly elevated (p=0.042) in subjects with progressive CPP compared to patients with premature adrenarche or premature thelarche. Both groups had similar BMI values. BMI z-scores and advanced bone age were positively correlated. BMI (p=0.08) and advanced bone age were not significantly different (p=0.12) in the group with CPP compared with the group comprising patients with either premature adrenarche or premature thelarche. Conclusion: These findings suggest that serum ALP levels are helpful as a tool to help distinguish CPP from premature adrenarche or premature thelarche in the evaluation of patients with initial early pubertal development. Presentation: 6/1/2024

Evaluation of foveal avascular zone changes in patients with type 1 diabetes using optical coherence topography angiography

Aim To evaluate vascular changes in the foveal avascular zone in pediatric patients with type 1 diabetes by using optical coherence tomography angiography (OCTA). Patients and methods This cross-sectional study was performed in Benha University Hospital at Department of Ophthalmology. The patients were obtained from the Pediatric Endocrinology Clinic in Benha University Hospital. The study was conducted on 48 patients (96 eyes) divided into two groups: group A, 24 diabetic children with type 1 diabetes, group B, 24 healthy children of the same age and sex who met the inclusion criteria. The patients were collected from April 2022 to April 2023. The patients were photographed using the Optovue AngioVue OCTA System. Results Our results show that according to the foveal avascular zone it was slightly wider in type 1 diabetic cases with no clinically evident diabetes retinopathy (DR) than control. There were insignificant differences between the two groups as regards foveal density, but as regards foveal thickness, it was significantly lower in diabetic cases than in the control group. Conclusion We discovered that OCTA could consistently identify microvascular changes in the Deep and Superficial Capillary Plexus prior to the clinical indications’ onset of DR. In order to assess the OCTA potential for the screening of DR in children with T1DM, it is necessary to conduct numerous prospective studies.

Evaluation of Patients with Tall Stature Applying to a Pediatric Endocrinology Clinic

Evaluation of Patients with Tall Stature Applying to a Pediatric Endocrinology Clinic

Uric Acid Levels in Overweight and Obese Children, and Their Correlation With Metabolic Risk Factors.

Obesity is an ongoing medical condition that continues to rise on a global scale. Numerous metabolic disorders, such as type 2 diabetes mellitus, hyperlipidemia, and hyperuricemia, are closely associated with obesity. This particular study aims to investigate the occurrence of hyperuricemia and its association with other metabolic factors among children and adolescents aged 6 to 14 years who are overweight or obese residing in Riyadh, Saudi Arabia. In this research, a cross-sectional, descriptive, and analytical study was carried out on 339 children and adolescents. These participants were selected randomly from a list of patients who had sought medical care for overweight and obesity at the pediatric endocrinology, general pediatrics, and family medicine clinics in King Abdulaziz Medical City (KAMC), located in Riyadh, Saudi Arabia, in the period from January 2020 to January 2022. To gather the necessary data, the electronic medical records of the participating individuals were carefully reviewed, encompassing various relevant variables, including demographic characteristics, anthropometric measurements, serum uric acid levels, lipid profiles, and fasting blood sugar. Out of the total 339 participants, 48 (14.2%) were identified as overweight, while 291 (85.8%) were classified as obese. The study revealed that the overall prevalence of hyperuricemia among the participants was 54%. There was an increased risk of hyperuricemia associated with male gender and elevated levels of LDL and TG. The significant prevalence of hyperuricemia among children and adolescents who are overweight or obese is evident. In order to improve control and management of this condition, it is crucial to prioritize the promotion of a healthy lifestyle among these individuals.

Difference in Precocious Puberty Between Pre-COVID-19 and COVID-19 Periods: A Meta-Analysis.

We conducted this systematic review and meta-analysis to clarify the trend of precocious puberty (PP) incidence after the COVID-19 outbreak and explore potential contributing factors, such as age at presentation and body mass index standard deviation score (BMI SDS). Children visiting pediatric endocrinology clinics for the first time for suspected PP were included. We searched databases until February 28, 2023 for studies reporting various indicators of PP incidence before and during the pandemic. Total numbers of events and observations were recorded. A meta-analysis was performed to compare the odds of PP, BMI SDS, and age at presentation between the two periods. The dose-response relationships between time points (by number of years away from the pandemic) and PP risk were explored. In summary, a total of 32 studies including 24,200 participants were recruited. COVID-19 pandemic was associated with the increasing odds of PP among children referred for suspicious condition (OR 1.96; 95% CI 1.56-2.47; I2 = 54%; P < 0.001). Sensitivity analysis confirmed the robustness of the findings. BMI SDS did not vary between the two periods, while age at presentation was lower following the pandemic. PP incidence increased more rapidly during the pandemic period than during the prepandemic period.

Adolescent-Preferred financial incentives to promote type 1 diabetes Self-Care: A discrete choice experiment

AimsThis study aimed to quantify preferences for the characteristics of a financial incentives program that would motivate adolescent engagement in type 1 diabetes (T1D) self-care. MethodWe performed a discrete choice experiment with 12–18 year-olds with T1D from two pediatric hospital endocrinology clinics (n = 317). We identified key attributes of incentives: (1) monthly value of the reward, (2) payment structure, and (3) difficulty of incentivized behaviors. In twelve choice questions, adolescents chose the incentive option from a pair of profiles that was more likely to motivate them to increase adherence to recommended self-care. Options presented were tailored to adolescents’ T1D technology use and perceived difficulty of completing each behavior. We analyzed data using a conditional logit model. ResultsThe value of the reward accounted for 60.8% of preferences. Adolescents were willing to accept lower value rewards when incentive payments used positive vs. negative reinforcement (−$10.88 (95% CI: −$12.60, −9.24)) and preferred higher incentives for performing hard vs. easier behaviors (+$14.92 (95% CI: +$12.66, +$17.28)). ConclusionsStated preferences can inform intervention design. Future research will evaluate the external validity of the discrete choice experiment-informed intervention design by assessing adolescent health and behavioral outcomes in a randomized controlled trial.

Metabolic syndrome among Egyptian children with Familial Mediterranean Fever: a case–control study

BackgroundFamilial Mediterranean fever (FMF) is the most prevalent inherited autoinflammatory disease globally. Metabolic syndrome (MetS) is a cluster of interrelated risk factors; insulin resistance, obesity, dyslipidemia, and hypertension are the main constituents of MetS.AimThis study aimed to investigate components of metabolic syndrome among Egyptian children with FMF during the attack-free period.Patients and methodsThis is a case–control study that was conducted in the Pediatric Rheumatology Outpatient Clinic and Pediatric Endocrinology Clinic, Children’s Hospital, Faculty of Medicine, Cairo University. It was conducted on 40 patients with FMF. The patients included were of both sexes and aged 10 years or older, during the FMF attack-free period; they were compared to 40 apparently healthy age- and sex-matched children as controls. All subjects in this study were subjected to detailed history taking, anthropometric measurements, general and systemic examinations. Laboratory evaluation (at the time of the study) was done at time of study, in the form of CBC with differential, BUN, creatinine, ESR, serum amyloid A, urine analysis, serum insulin, fasting blood glucose, and lipid profile. FMF gene mutations were collected from patients’ files.ResultsThe mean ± SD age of FMF patients was 12.65 ± 1.82 (10–17) years, while the mean ± SD age of the control group was 12.6 ± 1.82 (10–16) years. Among FMF patients, 50% were males, and 50% were females (F:M = 1:1), while in the control group, 47.5% were females, and 52.5% were males. All FMF patients were during the attack-free period. There was a statistically significant difference between both groups regarding insulin resistance, being more frequent among the FMF patients’ group, with a p-value of 0.025.ConclusionNone of our FMF patients met the criteria for the definition of metabolic syndrome, but there was a significant difference between cases and control regarding insulin resistance with higher frequency among FMF patients, probably due to the ongoing subclinical inflammation. This indicates that children with FMF may be at a higher risk of getting metabolic syndrome later on in life.

Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.

Neonatal diabetes mellitus (NDM) is a rare non-immunological monogenic disorder characterized by hyperglycemic conditions primarily occurring within the first 6 months of life. The majority of cases are attributed to pathogenic variants in genes affecting beta-cell survival, insulin regulation, and secretion. This study aims to investigate the genetic landscape of NDM in Iran. We recruited a total of 135 patients who were initially diagnosed with diabetes at <12 months of age in Iran and referred to pediatric endocrinology clinics across the country. These patients underwent genetic diagnostic tests conducted by the Exeter Molecular Genetics Laboratory in the UK. The pathogenic variants identified were sorted and described based on type, pathogenicity (according to ACMG/AMP criteria), novelty, and the affected protein domain. Genetic defects were identified in 93 probands, presenting various pathogenic abnormalities associated with NDM and its associated syndromes. 76% of the patients were born as a result of consanguineous marriage, and a familial history of diabetes was found in 43% of the cases. A total of 58 distinct variants in 14 different genes were discovered, including 20 variants reported for the first time. Causative variants were most frequently identified in EIF2AK3, KCNJ11, and ABCC8, respectively. Notably, EIF2AK3 and ABCC8 exhibited the highest number of novel variants. These findings provide valuable insights into the genetic landscape of NDM in the Iranian population and contribute to the knowledge of novel pathogenic variants within known causative genes.

Functional Mobility Scale and Scoliosis Degree before and after Zoledronate Therapy in Children with Osteogenesis Imperfecta

Abstract Background Intravenous zoledronate, has been indicated for the treatment of Osteogenesis imperfecta (OI). It is a heritable disorder that causes bone fragility. The purpose of this study was to evaluate its effect on functional mobility scale and scoliosis degree on children with OI. Methods and Results This observational study was conducted on 28 OI patients (12 boys &amp; 16 girls) aged 1.3-7.15years. All parameters were evaluated at Pediatric Endocrinology clinic, Children’s Hospital, Ain Shams University. Treatment was started with zoledronate dose 0.05 mg/kg every 6 months. Children less than 3 years of age received intravenous Zoledronate at a dose of 0.025 mg/kg per dose every 6 months with a maximum dose of 2 mg, while children above 3 years old received 0.05 mg/kg/dose every 6 months with a maximum dose of 4 mg. FMS and scoliosis degree using cobb anglewere evaluated before and after zoledronate therapy. Patients showed highly significant improvement in FMS. Patients with mild and moderate degree of scoliosis showed a non significant improvement in the degree of scoliosis while patients with severe scoliosis didn’t show any statistically significant difference. Conclusion Our study showed that intravenous zoledronate treatment, given once every 6 months, is an effective mode of treatment in OI children. It was associated with improvement in FMS. Longer follow-up is necessary to monitor the effect of treatment on degree of scoliosis by cobb angle.

Detection of Subclinical Cardiomyopathy in Patients with Hashimoto Thyroiditis

Abstract Background Hashimoto thyroiditis (HT) is the most common cause of thyroid diseases in children and adolescents. Ventricular myocardial dysfunction associated with HT has been suggested to be related to the chronic inflammatory state associated with autoimmunity as well as to the endocrine effects. Objective To evaluate using speckle tracking echocardiography (STE) and estimation of carotid intima-media thickness (CIMT) in early detection of myocardial dysfunction in children with Hashimoto thyroiditis. Patients and Methods A cross-sectional case-control study was performed that included 15 patients with HT recruited from the pediatric endocrinology clinic, at Ain Shams University Hospital from October 2020 to July 2021. The patients were compared to 15 age and sex-matched healthy controls. Data were collected from patients’ files including age at initial diagnosis, initial level of thyroid hormones, antithyroglobulin antibodies, and antithyroid peroxidase antibodies. Results Mean age of enrolled patients was 13.20 ± 3.05 years. Cardiac functions in HT patients by using conventional Echocardiography and STE, both were correlated to thyroid hormones, auto- antibodies, lipid profile, and duration of disease (P &amp;lt; 0.05 for all). There were no statistically significant differences in conventional Echocardiographic parameters between patients and controls(P &amp;gt; 0.05 for all). Left ventricular global longitudinal strain (LVGLS) was within the normal range for both groups and showed no statistically significant differences between them (P &amp;gt; 0.05). Known HT patients had lower LVGLS mean (19.72 ± 1.22 %) than newly diagnosed patients (21.52 ± 0.99%, P = 0.014). There was no correlation between cardiac functions and the level of thyroid auto-antibodies (P &amp;gt; 0.05 for all). There was no statistically significant difference between patients and controls in CIMT (0.33 ± 0.05 vs 0.35± 0.05, P = 0.473). There was a positive correlation between the duration of disease and CIMT among patients (P-value= 0.025) Conclusion Patients with HT may have subclinical myocardial dysfunction which could be attributed to the chronic inflammatory state even with normal thyroid functions. STE can early detect the myocardial dysfunction on initial examination and follow up.

Clinical and Biochemical Profile of Patients with 46, XY Disorders of Sex Development

Abstract Background Disorders of sex development (DSD) comprise a wide range of conditions with varying features and pathophysiology that most often present in the newborn or the adolescent. Affected newborns are born with ambiguous genitalia, whereas adolescents present with atypical sexual development during the pubertal years. Aim of the Work To study the clinical and biochemical profile of patients with 46, XY disorders of sex development. Patients and Methods This was a descriptive study, conducted on 50 patients with 46, XY DSD attending the Pediatric Endocrinology clinic, Children's Hospital, Ain Shams University were recruited from April 2019 till April 2020. Results In our study 88% of cases were reared as males, while 12% were reared as females. The mean age at diagnosis was 2.48 ± 1.33 years with a range of 1-7 years. Parental consanguinity was present in 28 (56.0%) patients and a positive family history in 10 (20.0%). Mean external masculinization score (EMS) in our study was 3.30 ± 1.81 and ranged from 0 to 9 with a median of 3. The mean of stimulated Testosterone / Dihydrotestosterone (T/DHT) ratio was 17.5 (7.8-26) and ranged between 1.5 and 66.6. The median of Anti Mullerian Hormone (AMH) was 56 ng/ml and ranged between 19.08 and 105 ng/ml. There was correlation between EMS final score and stimulated DHT (r = 0.54, P = 0.000). Of note 6 (12.0%) patients had reconstruction of scrotum, 7 (14%) had undergone inguinal hernia repair, 12 (24%) had undergone correction of hypospadias, 6 (12.0%) bilateral gonadectomy,6 (12.0%) left orchiopexy, 3 (6.0%) right orchiopexy and 10 (20%) bilateral orchiopexy. Conclusion Due to the overlapping clinical and biochemical parameters in various subsets of DSD, only a preliminary etiological diagnosis can be made in some cases. Genetic examination with long-term follow-up are needed for a precise diagnosis. Management of these patients is multidisciplinary which needs an endocrinologist, gynecologist, psychologist, pediatrician, and clinical geneticist.

Family planning preferences in transgender youth in an urban multi-disciplinary gender clinic

BackgroundKnown barriers to family planning in the transgender population include low utilization of cryopreservation and decisional regret. There is growing data on the risk of infertility with GAHT, and on to what degree transgender adolescents feel informed about fertility and family planning options. ObjectiveAssess preferences regarding options for family planning and fertility preservation in transgender adolescents treated with GAHT in a pediatric endocrinology gender clinic. The goal is to enhance patient education about potential effects of GAHT on fertility and options for family planning. MethodsForty one adolescents aged 10 years and older treated with GAHT in an urban outpatient pediatric endocrinology clinic were surveyed over a 6-month period from January to June 2022. Survey questions were multiple choice, Likert scale, and open-ended. Participants were at least 10 years of age, actively followed in the clinic, and receiving GAHT at time of enrollment. ResultsForty one participants completed the survey. Four (10 %) expressed interest in discussing family planning with their provider. Eighteen (45 %) were open to discussion in the future; 16 (39 %) were not interested at all. 12 (30 %) participants were planning for future parenthood, and 16 (40 %) participants were undecided. Of those interested in parenthood 7 (53.8 %) planned to adopt or foster. Barriers to family planning expressed included financial concerns, potential need to pause GAHT, and social stigma of transgender parenthood. Twenty (50 %) participants recalled prior family planning discussion with their endocrinologist. ConclusionFamily planning discussions may not be optimally impactful given that 50 % of participants did not recall the conversations. Family planning is a lower priority in this population as most desired to postpone discussion with their provider despite choosing treatment that could influence fertility. It is essential to identify methods to engage transgender youth in discussions related to family planning during GAHT.

The potential of the Mediterranean diet to improve metabolic control and body composition in youths with Type 1 Diabetes Mellitus

BackgroundA chronic autoimmune disease with an increasing incidence rate, type 1 diabetes mellitus (T1DM) is typified by the degeneration of the pancreatic beta cells. Diabetes management is significantly impacted by nutrition. Although it has been demonstrated that following the Mediterranean diet (MD) improves metabolic control with type 2 diabetes in children and adults, its effects on children with T1DM have not received much attention.ObjectiveTherefore, the purpose of this study was to assess whether adherence to Mediterranean diet is associated with better metabolic control and body composition in youths with Type 1 Diabetes Mellitus. The study recruited T1DM patients aged 6-18 years at İstanbul University Cerrahpaşa Medical Faculty Hospital's Pediatric Endocrinology and Diabetes Outpatient Clinic for follow-up.MethodsIn addition to demographic variables, some anthropometric measurements, body composition and biochemical parameters such as: Trygliceride(TG), Total cholesterol (TC), High density lipoprotein cholesterol (HDL-C), Low density lipoprotein cholesterol (LDL-C), (Aspartate aminotransferase) AST, Alanine transaminase (ALT) and glycated hemoglobin (HbA1c) was analyzed. The time in range (TIR) is a value obtained from continuous glucose monitoring. KIDMED was used to assess the participants' adherence with the MD.ResultsGood adherence to the MD resulted in much larger height SDS than poor adherence. Poor adherence to MD resulted in higher body fat than moderate and good adherence.There is positivite correlation between TIR and KIDMED score. Adherence to MD is negatively associated with HbA1c. The regression anaylsis showed that a one-point rise in the KIDMED score would result in a 0.314-unit reduction in the HbA1c value (p < 0.01).ConclusionsIn conclusion, this study found that adhering to MD led to improved anthropometric measurements, biochemistry, and diabetes outcomes. Awareness among children, adolescents with T1DM, and their parents about the benefits of MD compliance for glycemic and metabolic control should be raised.

Paediatric steatotic liver disease has unique characteristics:A multisociety statement endorsing the new nomenclature.

Nonalcoholic fatty liver disease (NAFLD) has been a commonly used term and diagnosis in paediatric hepatology, gastroenterology, and endocrinology clinics for over 30 years. A multisociety Delphi process has determined a new name "Steatotic Liver Disease"(SLD) as the overarching term for disorders associated with hepatic lipid accumulation. Our Societies give our support to steatotic liver disease as the best overarching term for use in our communities. Metabolic dysfunction-associated steatotic liver disease (MASLD) overcomes many of the shortcomings of the name NAFLD. Here, we highlight several points of the new nomenclature that are of particular importance for our community and their consequences for implementation including: diagnostic criteria, considering alternate diagnoses, practical implementation, research, advocacy, and education for paediatricians. As with all nomenclature changes, it will take a concerted effort from our paediatric societies to help integrate the optimal use of this into practice.

Incidence of central precocious puberty declines to pre-pandemic levels post COVID-19 pandemic increase: single-center retrospective review in the United States.

We previously published the increased frequency of new CPP cases during the Covid-19 pandemic in our pediatric endocrinology clinic at Rady Children's Hospital in San Diego, CA, US. We conducted this follow-up study to examine the incidence of new CPP cases requiring treatment with GnRH agonist (GnRHa) in our clinic during 2 years post-pandemic. We performed a retrospective comparison of the number of visits of children newly diagnosed with CPP treated with GnRHa during the 2 years following the first year of Covid-19 pandemic (5/2021-7/2023). We evaluated clinical and bone maturation data as well as differences in timing from diagnosis to onset of treatment. We previously reported in the pre-Covid year, 28 children (1 boy, 27 girls) treated with GnRHa for CPP out of 2,340 new endocrinology visits (1.2% of patients seen). During Covid-19 year, 64 children (7 boys, 57 girls) were treated out of 2,261 new visits (2.8%). The incidence of new CPP cases requiring GnRHa during the pandemic more than doubled compared to pre-pandemic. In the first year post-year 1 of the pandemic (5/2021-4/2022), 46 children (3 boys, 40 girls) started treatment with GnRHa for CPP out of 2,595 new endocrinology visits (1.6% of patients seen). During the second follow-up year (5/2022-4/2023), 22 children (4 boys, 18 girls) started treatment with GnRHa for CPP out of 2,676 new endocrinology visits (0.8% of patients seen). Age at onset of treatment, degree of bone age (BA) advancement, time from diagnosis to onset of treatment, and changes in BMI during the pandemic were not different from pre-pandemic or post-pandemic. CPP cases requiring GnRHa treatment significantly increased during the first year of the Covid-19 pandemic and then decreased each year post-pandemic. This was not related to BMI, age at diagnosis, degree of bone age advancement, or time from diagnosis to onset of treatment as all these factors have been similar during pre-pandemic, pandemic, and post-pandemic years. It is reasonable that the postulated hypotheses published regarding the increase during the pandemic would resolve post-pandemic.