Journal of Pediatric Endocrinology & Metabolism最新文献

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: 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: 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.

Objectives: Childhood obesity is thought to influence pubertal development, according to observational studies. However, the exact causal relationship remains unclear due to the complexity of factors affecting pubertal development.

Methods: To explore the association between exposure (childhood obesity) and outcome (delayed puberty, height), we utilized various methods, including inverse-variance weighted (IVW), weighted median, weighted mode, and MR Egger regression. Additionally, sensitivity analyses were conducted using MR-Egger, MR-PRESSO, Cochran's Q, and leave-one-out techniques to ensure the robustness of the results. Additionally, reverse MR analysis was conducted to explore potential reverse causation.

Results: The IVW analysis revealed no significant genetic causal link between childhood obesity and delayed puberty or height (all p>0.05). In the reverse analysis, height had a causal association with childhood obesity (OR=0.85, 95 % CI=0.76-0.96). The Cochran's Q test highlighted heterogeneity in the results concerning childhood obesity and height (p<0.05). But the MR-Egger intercept and MR-PRESSO test confirmed no impact the results pleiotropic bias, supported by leave-one-out sensitivity analysis.

Conclusions: Our study found no significant genetic causal association between childhood obesity and delayed puberty or height. However, height was causally associated with childhood obesity. Future research should utilize advanced analytical methods to better understand the determinants of pubertal development.

Objectives: To explore the experiences and perceptions of young adults with type 1 diabetes (T1D) after they transferred care from a pediatric to an adult clinic, utilizing an organized transfer process that included a Diabetes Transition Clinic (DTC) and a transfer letter (TL).

Methods: This retrospective study used a semi-structured interview 1-1.5 years after transfer of care, which gathered both quantitative and qualitative data of young adults (n=12) who transferred care at an average age of 19.6 years, within a Midwest academic medical center. Descriptive statistics and thematic analysis were used to analyze the data and to identify emerging themes.

Results: Most participants were worried about their transfer of care and found attending a DTC valuable. Most found the TL helpful in summarizing their diabetes care. Emerging themes demonstrated the importance of preparing the young adult for change, supporting their emotional journey, and developing connections with their new diabetes team.

Conclusions: For young adults with diabetes, the transfer of care from pediatric to adult is a time of apprehension. Incorporating a DTC and TL can facilitate this journey by preparing patients for change and developing ways to deepen connections with new providers.

Objectives: Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency. In addition, we provide a systematic revision of all the published cases of hypopituitarism among patients with MS.

Case presentation: A 6-year-old patient with a MS was referred to our outpatient clinic for faltering growth. The combination of stature below -3.0 SDS, impaired height velocity and pathological response to two GH-stimulation tests prompted the diagnosis of GH deficiency and therefore recombinant human GH was undertaken. Brain MRI highlighted a thin infundibular stalk. By the age of 10 years, she started to complain progressive fatigue and the co-occurrence of remarkably decreased fT4 levels in the setting of non-increased TSH led to diagnose central hypothyroidism. Accordingly, she was started on levothyroxine replacement therapy with timely clinical improvement. At the age of 11.3 years, recurrent symptoms consistent with morning hypoglycaemia prompted the prescription of a low-dose ACTH test, that confirmed an ACTH deficiency, in the setting of a multiple pituitary hormonal impairment.

Conclusions: Patients with MS are potentially at risk for either isolated or multiple pituitary hormones deficiency. Clinicians should lower the threshold for prescribing a dedicated endocrine assessment.