Journal of Pediatric Endocrinology & Metabolism最新文献

Objectives: Despite improved outcomes in the use of a hybrid closed loop system (HCLS), significant disparities in the application of this technology exist among youth with type 1 diabetes (T1DM). The study aimed to evaluate the impact of a tubeless HCLS on glycemic outcomes in a pediatric racial-ethnic minority population.

Methods: A retrospective, single-center study included youth with T1D initiating HCLS Omnipod 5. Outcomes included HbA1c, continuous glucose monitor variables, BMI Z score, and episodes of diabetic ketoacidosis (DKA). Outcomes were compared from baseline, 3 and 6 months of Omnipod 5 start.

Results: The study included 174 participants, aged between 2 and 22 years, with a mean age of 7.9 ± 3.7 years. Hispanics constituted 87.3 % (152) of the cohort, with 53 % males and 47 % females. Insurance coverage was 56.9 % public, 42.5 % private, and 0.5 % uninsured. Baseline HbA1c level was 8.0 % ± 1.7, 7.3 % ± 1.1 at 3 months and 7.3 % ± 1.1 at 6 months (p<0.001). Glucose time in range (TIR) was 54.5 % at baseline to 61.9 % at 3 months, and 60.5 % at 6 months (p<0.001). Notably, there were no changes in BMI z-scores or DKA episodes following the initiation of the HCLS Omnipod 5.

Conclusions: The study showed that a tubeless HCLS significantly improved glycemic control in a pediatric minority cohort with T1DM, without affecting BMI Z-scores or increasing DKA episodes. Ongoing efforts to address disparities in diabetes technology access are crucial for optimizing care and alleviating the burden on individuals with T1DM across racial backgrounds.

Objectives: DNA ligase IV (LIG4) deficiency is a rare autosomal recessive disorder associated with impaired DNA damage-response mechanisms. LIG4 deficiency exhibits a broad clinical spectrum, including microcephaly, facial abnormalities, sensitivity to ionizing radiation, ranging from severe combined immunodeficiency to normal immune function, progressive bone marrow failure, and predisposition to malignancy.

Case presentation: We report an 18-year-old girl of consanguineous Turkish parents, first evaluated at 13 years old for growth retardation and short stature. She was born preterm at 32 weeks with dysmorphic facial features, lissencephaly, intellectual disability, and without immunodeficiency. Although diagnosed with growth hormone deficiency, she did not receive appropriate hormone therapy due to special circumstances. At the age of 15, she presented with primary amenorrhea. Further evaluation revealed hypergonadotropic hypogonadism due to gonadal failure. Genetic analysis revealed a homozygous c.2440C>T (p.Arg814Ter) mutation in the LIG4 gene. Following genetic counseling, her parents opted for prenatal diagnosis in a subsequent pregnancy, resulting in the birth of another child with the same condition.

Conclusions: LIG4 syndrome should be considered in the differential diagnosis of cases with growth retardation, microcephaly, and gonadal failure. In the literature, there are limited cases reported with gonadal failure in LIG4 syndrome. Here, we emphasize this aspect to highlight its significance.

Objectives: Evaluate the differences in metabolic risk factors in preschool children with normal weight (NWG) or with some degree of excess weight (OWG).

Methods: Body mass index (BMI), umbilical waist circumference (WC), mid-upper arm circumference (MUAC) and total body fat (TBF) in children aged 1-5.9 years. The following metabolic risk factors were measured: blood pressure, fasting glycaemia, fasting serum insulin, HOMA IR Index, total cholesterol (TC), LDL cholesterol (LDL-C) HDL cholesterol (HDL-C) and triacylglycerol (TG).

Results: In population evaluated (n:689) MUAC, WC, TBF, HOMA IR were higher in OWG compared to NWG and significantly higher in OWG girls compared to boys (two ways ANOVA). Positive associations were found between diastolic blood pressure, insulin and HOMA IR and WC, MUAC, TBF, BMI z score in the adjusted and unadjusted model.

Conclusions: MUAC may emerge as an indicator with predictive power for metabolic risk and would be very useful to measure in many setting. There is a need for in-depth research into sex difference.

Objectives: We aimed to investigate the relation of oxytocin receptor (OXTR) gene variants (rs53576 and rs2254298) and serum oxytocin (OXT) levels with psychiatric symptoms in healthy adolescents and adolescents with obesity.

Methods: A total of 250 adolescents with obesity and 250 healthy adolescents were included in this study. Attachment properties, anxiety, and depression were evaluated with self-reports while diagnoses were ascertained with KIDDIE-SADS-PL Turkish version. Serum OXT level was studied with the ELISA method, and OXTR gene variants were studied by quantitative polymerase chain reaction (rs53576) and restriction fragment length polymorphism (RFLP) (rs2254298) methods.

Results: Serum OXT level was significantly lower in adolescents with obesity than in healthy controls. Self-reported symptoms of anxiety and depression were significantly elevated, especially in female adolescents with obesity, whereas parent/peer attachment was significantly lower. The rs53576 G/G genotype was found to be significantly more prevalent among obese youth. About 29.2 % of obese youth were diagnosed with psychopathology, especially anxiety and depression. OXT levels and receptor polymorphisms were not related to self-reported symptoms, attachment, and presence of psychopathology.

Conclusions: Further studies should evaluate the roles of other constructs (e.g., early adversity, parenting, social supports, coping, temperament, etc.) and discern the roles of parent-child synchrony in elucidating relationships between OXT, pediatric obesity, and psychopathology.

Objectives: Propionic acidemia (PA) is an autosomal recessive multisystem disorder caused by the deficiency of propionyl-CoA carboxylase, encoded by PCCA and PCCB genes. This retrospective study presents the clinical and laboratory characteristics of PA patients followed up in our center.

Methods: Included in the study were 50 patients diagnosed in a single center with propionic acidemia between 1984 and 2020, whose electronic and written hospital records regarding demographic, clinical, and laboratory features, along with diagnostic and therapeutic approaches, were reviewed retrospectively.

Results: This cohort had a median age at diagnosis of 18 days and 91.1 % (n=41) were born at term. Consanguinity was notably prevalent (91.1 %), and a family history of PA was reported in 14 % of cases. No significant relationships were observed between clinical and laboratory parameters and mortality. Laboratory findings at the time of diagnosis revealed significant metabolic abnormalities, including low levels of free carnitine, elevated C3 propionyl carnitine, and varied amino acid imbalances. Twenty-three patients exhibited developmental delay and/or intellectual disability. Brain magnetic resonance imaging unveiled white matter involvement and ventricular dilatation in 9/25 patients. Furthermore, dilated cardiomyopathy (26 %) was noted in patients who had cardiac assessments. Among the study cohort, 27 patients survived, 23 patients died during follow-up. No significant relationships were observed between clinical and laboratory parameters and mortality.

Conclusions: Despite improvements in the understanding of the pathophysiology and advances in diagnostic and treatment approaches, propionic acidemia and its long-term complications can still lead to severe consequences. This comprehensive evaluation offers valuable insights into the multifaceted nature of PA.

Objectives: To verify the moderating role of screen time in the relationship between body mass index (BMI) and sleep duration in children and adolescents.

Methods: This cross-sectional study involved 1,338 children and adolescents (aged 6-17 years old; 761 girls) recruited from a municipality in south Brazil. Body weight and height were assessed to calculate BMI. Information regarding screen time, sleep duration, age, sex, sexual maturation, housing area, and socioeconomic status was obtained through a self-reported questionnaire. Moderation was tested using multiple linear regression modelling through an SPSS program extension. All models were adjusted for sex, age, sexual maturation, housing area, and socioeconomic status.

Results: No association was found between BMI and sleep duration (β=0.830; 95 % CI=-0.943; 2.603). However, when the role of screen time was considered, it was observed that this variable significantly moderated the relationship between BMI and sleep duration (β=-0.006; 95 % CI=-0.011; -0.001). Specifically, children and adolescents who spent more than 360 min per day in front of the screens presented higher BMI and shorter sleep durations.

Conclusions: The more time children and adolescents spend in front of screens, the higher the likelihood it will negatively affect their BMI and sleep duration. These findings emphasize the need for interventions that promote healthy screen habits and encourage behaviors that support optimal sleep duration to mitigate the potential negative effects on body weight and overall health.

Objectives: Diabetic ketoacidosis (DKA) is a complication of uncontrolled diabetes mellitus, with a known increase in severity and incidence during the COVID-19 pandemic. Our institution also observed a rise in pediatric DKA cases in our largely underserved patient population. We hypothesized that the impact would be more pronounced in Black patients due to prepandemic healthcare inequities.

Methods: To investigate this, we confirmed the increased number of severe DKA cases in our pediatric patients during the pandemic and then stratified data to compare laboratory values between Black and White patients. We analyzed patients with a DKA diagnosis admitted to our institution's pediatric intensive care unit (PICU) prior to the pandemic (March 2016 to December 2017) and during its peak (March 2020 to December 2021).

Results and conclusions: Our data demonstrated more cases of severe DKA overall during 2020-2021 and when compared to prepandemic years, a statistically significant increase in severity for Black, but not White patients.

Objectives: Pediatric primary adrenal insufficiency (PAI) etiologies beyond congenital adrenal hyperplasia (CAH) show regional variations. Given limited data from India, this study aims to describe the etiological profile, phenotype, and genotype of pediatric PAI in an Indian cohort.

Methods: We conducted a retrospective review of patients with PAI onset before 20 years of age from 1998 to 2023 at a single center. After excluding patients with inadequate data (n=20), CAH (n=218), and bilateral adrenalectomy (n=19), we analyzed demographic, clinical, biochemical, and genetic data of the remaining patients.

Results: Among 54 patients (45 probands), the median age at presentation was 6 years (range 0.1-19). Common clinical features included hyperpigmentation (90.7 %), adrenal crisis (33.3 %), and seizures (29.6 %). Mineralocorticoid deficiency was present in two-third patients including one patient each with AAAS, MRAP, and NNT mutation. Adrenoleukodystrophy (ALD) was the most common cause (40 %), followed by ACTH resistance states (20 %), early steroidogenic defects (13.3 %), congenital adrenal hypoplasia (11.1 %), autoimmune causes (8.9 %), and tuberculosis (4.5 %). Genetics diagnosed 14/15 patients without phenotypic clues and confirmed diagnoses in 21 tested of 30 with phenotypic pointers (alacrimia in AAAS, hypoparathyroidism/candidiasis in autoimmune polyendocrine syndrome-1 and neurodeficit in ALD). Genetics differentiated CYP11A1 mutation from suspected ALD in two siblings with neurological deficits. We identified seven novel gene variants. We report the first case of NNT associated with 46,XY gonadal dysgenesis. Adrenal tuberculosis was a unique cause of pediatric PAI.

Conclusions: This study reveals diverse non-CAH pediatric PAI etiologies in India, emphasizing genetic testing's importance for precise diagnoses and suggests region-specific diagnostic algorithm.

Objectives: The aim of this study was to investigate long-term bone development in children with cerebral palsy (CP) using longitudinal measurements of total body less head bone mineral content (TBLH-BMC) and bone mineral density (TBLH-BMD).

Methods: A retrospective longitudinal analysis was performed on 109 children with CP who participated in a rehabilitation programme from 2006 to 2018. Dual-energy X-ray absorptiometry (DXA) scans were performed at the beginning of the programme and repeated as clinically indicated. The study used SITAR growth curve analysis and the LMS method within the GAMLSS model to generate developmental trajectories for TBLH-BMC and TBLH-BMD.

Results: The findings suggest that the expected developmental trajectories of TBLH-BMC and TBLH-BMD in children with CP approximately follow the third percentile of healthy children. The median annual increase in bone mineral density was similar between GMFCS I-II and III-V groups at 5.12 and 5.79 %, respectively. Girls with CP reached age at peak velocity (APV) earlier than boys. The intensive exercise programme may have contributed to greater annual bone growth in children with more severe CP.

Conclusions: Children with CP have bone growth trajectories close to the third percentile of their healthy peers, suggesting that age-adjusted z-scores for TBLH-BMC and BMD remain relatively stable throughout childhood and adolescence. Early and targeted interventions, including improving muscle strength and mobility and optimising nutritional and hormonal status, are essential to promote better bone health and quality of life in children with CP.

Objectives: This study aimed to identify clinical features of girls referred to a pediatric endocrinology clinic for suspected precocious puberty, differentiate true precocious puberty from other variants, evaluate treatment status, and identify distinguishing factors between patient groups.

Methods: We retrospectively evaluated the records of 275 consecutive girls aged 0-10 years referred for suspected precocious puberty.

Results: Among the patients, 30 (10.9 %) were diagnosed with precocious puberty, 35 (12.7 %) with premature adrenarche, 22 (8 %) with premature thelarche, 33 (12 %) with rapidly progressing early puberty, 108 (39.3 %) with early puberty, and 47 (17.1 %) had a normal diagnosis. Precocious puberty was associated with higher rates of overweight/obesity (p=0.002), advanced bone age (p<0.001), height SD, and mid-parental height SD difference (p<0.001), as well as a history of preterm birth (p=0.041). Patients with rapidly progressing early puberty had mothers with a lower age at menarche (p=0.040). No significant differences were found for being born small for gestational age, maternal polycystic ovary syndrome, screen time, and junk food consumption (p>0.05). Treatment was recommended for 32 patients (11.6 %), including 11 with precocious puberty and 21 with rapidly progressing early puberty.

Conclusions: Most patients referred for early pubertal development are diagnosed with normal puberty or its variants. Assessing preterm birth, early maternal menarche age, and advanced bone age helps identify true precocious puberty and rapidly progressing early puberty, aiding timely treatment.