Journal of Clinical Research in Pediatric Endocrinology最新文献

Objective: This study was conducted to assess the perspectives of pediatric endocrinologists in Türkiye on the management of congenital hypothyroidism (CH) and to analyze the potential impact of work environment and professional experience on different attitudes.

Methods: The members of the Turkish Society for Pediatric Endocrinology and Diabetes were invited to participate in an online survey. An evaluation was made by obtaining survey responses from 95 (19%) of 502 members.

Results: Participants' mean age was 42.0±9.6 years, 46.3% of them were working in a university hospital, and 48.6% had >7 years of work experience. When the participants were asked about their approach to a 1-3-week-old neonate whose serum TSH concentration was 6-20 mU/L with a serum-free T4 (FT4) concentration within the age-specific reference interval, 97.7% of the participants preferred to monitor without medication. Only 24% of physicians consider starting treatment immediately if the serum TSH concentration is 20-40 mU/l with a normal FT4 level. While 5.3% of participants preferred dual imaging (ultrasound and scintigraphy), 90.5% requested only thyroid ultrasound for etiological investigation. When considering the discontinuation of levothyroxine in patients with a normal thyroid gland and a low LT4 dose, 28.4% of the participants stated that treatment should be stopped at the earliest at the age of 3 years, 16.8% at 2 years, 5.3% at 1 year, 16.8% at 6 months, and 32.6% at any time if the TSH levels remain low despite the low dosage. Physicians with over 7 years of experience can discontinue medication if TSH is low, even with a lower dose, more frequently than those with less experience (p=0.011). There were no significant differences in the approach of the physicians between employees at university hospitals and other health institutions.

Conclusion: Although the attitudes of pediatric endocrinologists working in Türkiye towards the management of CH are generally consistent with the recommendations of international guidelines, their approaches to the treatment for isolated neonatal TSH elevation, thyroid imaging preferences and time to discontinue treatment differ significantly. These different attitudes, which are almost similar among all subgroups by experience and work setting, reflect the differences in local conditions in Türkiye and underline the need for a national consensus on the management of CH.

Introduction: Obesity is associated with an increased risk of PCOS. It can be difficult to differentiate between PCOS and physiological oligomenorrhoea/anovulation in adolescent girls. To date, studies of the prevalence of PCOS in adolescents have predominantly used diagnostic criteria validated primarily in adult women. The aim of this study was to investigate the prevalence of PCOS in obese girls using the current diagnostic criteria for adolescents.

Methods: A total of 421 patients were included in the study. The diagnosis of PCOS was based on the presence of menstrual irregularity, clinical hyperandrogenism and hyperandrogenemia and the exclusion of other causes. Patients with one or two of these conditions were classified as "at risk for PCOS". The control group consisted of patients with obesity alone but no other comorbidity.

Results: The number of patients meeting the definition of PCOS was 35, representing a prevalence of 8.3%, while 200 patients (46%) were defined as "at risk for PCOS". The diagnostic value of the free androgen index (FAI) was found to be adequate, while other tests were poor. The cut-off values were 11 for FAI and 0.44 ng/ml for total testosterone, with optimal sensitivity and specificity.

Conclusion: Despite the increasing number of studies, the diagnosis and management of PCOS in adolescents remains a puzzle. While efforts should be made to avoid overdiagnosis, it is also important to recognize that many more patients may be "at risk" of developing PCOS.

Objective: No studies have investigated muscle strength and thickness in adolescents with polycystic ovary syndrome (PCOS). We investigated whether there were changes in quadriceps muscle thickness and strength between adolescents with PCOS and controls. Secondly, we evaluated the effects of six months of combined oral contraceptive (COC) treatment on the quadriceps muscle.

Materials and methods: The study included 20 adolescents with PCOS and 20 healthy adolescents. The isokinetic dynamometer for the knee muscle strengths and hand dynamometer for grip strength, and ultrasound for quadriceps muscle thickness were used. These measurements were repeated after six months of COCs treatment in the patient group.

Results: Age, weight, height, pubertal stage, Physical Activity Questionnaire scores, quadriceps muscle thickness, grip strength and all isokinetic knee strength values were similar between patients and controls (all p>0.05). Compared to baseline, weight, height, quadriceps strength and lipid profile increased (all p<0.05). According to subgroup analyses, significant (and greater) increases in quadriceps muscle strength were found in COC-containing levonorgestrel users (n=6) than in cyproterone acetate users (n=13) (both p<0.05).

Conclusion: Quadriceps muscle thickness and strength values were similar between PCOS patients and controls. Significant and greater increases were observed in quadriceps muscle strength in levonorgestrel users than cyproterone acetate users. Further longitudinal studies with larger samples evaluating the COCs with different androgenic capacity are awaited to confirm our preliminary findings.

Objective: The honeymoon phase in Type 1 Diabetes (T1D) presents a temporary improvement in glycemic control, complicating insulin management. This study aims to develop and validate a machine learning-driven method for accurately detecting this phase to optimize insulin therapy and prevent adverse outcomes.

Methods: Data from pediatric T1D patients aged 6-17 years, including continuous glucose monitoring (CGM) data, Glucose Management Indicator (GMI) reports, HbA1c values, and patient medical history, were used to train machine learning models. These models Long Short-Term Memory (LSTM) networks, Transformer models, Random Forest, and Gradient Boosting Machines were designed to analyze glucose trends and identify the honeymoon phase in T1D patients.

Results: The Transformer model achieved the highest accuracy at 91%, followed by Gradient Boosting Machines at 89%, LSTM at 88%, and Random Forest at 87%. Key features such as glucose variability, insulin adjustments, GMI values, and HbA1c levels were critical in model performance. Accurate identification of the honeymoon phase enabled optimized insulin adjustments, enhancing glucose control and reducing hypoglycemia risk.

Conclusion: The machine learning-driven approach provides a robust method for detecting the honeymoon phase in T1D patients, demonstrating potential for improved personalized insulin management. The findings suggest significant benefits in patient outcomes, with future research focused on further validation and clinical integration.

Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.

Methods: Six patients from five unrelated families presented with short-trunk dwarfism, delayed motor milestones, waddling gait, normal intelligence, and similar radiological features, including delayed epiphyseal ossification, epimetaphyseal changes, scoliosis, lordosis, and platyspondyly, underwent whole exome sequencing. Demographic, clinical, laboratory, and radiological data were retrospectively obtained from hospital records. Segregation analysis was conducted using Sanger sequencing in all patients.

Results: Based on clinical, radiological, and molecular results, six patients were categorized into Kniest dysplasia, Spondyloepiphyseal dysplasia congenita, and Spondyloepimetaphyseal dysplasia Strudwick type. Four novel variants (c.1023+2T>C, p.Gly465Asp, p.Gly855Asp, p.Gly669Ala) were identified in the COL2A1 gene.

Conclusion: Accurate classification of type 2 collagenopathies is essential for providing genetic counseling. Predicting extraskeletal manifestations and reducing morbidity through early diagnosis and treatment will significantly improve the quality of life for patients.

Objectives: Neudesin is a newly discovered protein mainly secreted from adipose tissue and the brain. It plays a role as a neurotrophic factor in the brain and a negative regulator of energy expenditure. Neurodevelopmental delay and cognitive dysfunction are common features in cases with congenital hypothyroidism (CH) without treatment. Considering neudesin's role in brain development and its contribution to the survival of mature neurons, any possible relationships between neudesin and thyroid hormone were evaluated.

Methods: A total of 52 patients (32 patients with CH, 14 females and 18 males, aged 19± 7 days; 20 healthy subjects for the control group; 7 females and 13 males, aged 22± 8 days) were included in the study. All patients were evaluated for thyroid hormones and plasma neudesin levels. The basal neudesin levels between the patient and control groups and the patients' neudesin levels before and after l-thyroxine treatment were compared.

Results: Regarding basal neudesin levels, there was no statistically significant difference (6.77±6.41 vs 7.93±7.04 ng/mL) (p=0.552) between the CH and control groups respectively. However, neudesin levels increased following one month of therapy (6.46±6.63 vs 12.85±18.74 ng/mL) in the CH group; this difference was statistically significant (p=0.019).

Conclusion: Although there was no difference in basal neudesin levels between the patient and control groups, neudesin levels increased with treatment. However, more extensive and different studies are needed to understand the pathophysiological role of this relationship in the disease or the recovery process.

Introduction: This study aimed to assess the clinical practices and attitudes towards Hashimoto's thyroiditis (HT) among pediatric (PEs) and adult endocrinologists (AEs).

Methods: The members of Turkish Society for Pediatric Endocrinology and Diabetes (n=502) and the Society of Endocrinology and Metabolism of Türkiye (n=910) were invited to participate in an online survey.

Results: Of the respondents (n=168), 72.6%(n=122) were PEs and 27.3%(n=46) were AEs. The response rate was 24% among PEs, 5% among AEs. The mean age was 42.7 years. The use of "only TPO-ab" was preferred more frequently in AEs (28.3%) than in PEs (4.1%) (p=0.002). The rate of informing patient/parents at the time of diagnosis that HT lasts a lifetime was 91.3% among AEs and 62.3% among PEs (p=0.001). The rate of beginning treatment in euthyroid cases with goiter was significantly higher in PEs (26.2%) compared to AEs (4.3%) (p=0.017). Among AEs, 71.7% stated that they would never stop treatment, while among PEs, 33.6% did (p<0.001). Also, 44% of PEs stated that they would try to discontinue treatment in euthyroid at the end of puberty. The rate of those who were undecided about selenium supplementation was higher among PEs (41%) than among AEs (21.7%) (p=0.007). Although none of the PEs recommended gluten restriction, 7.5% of the AEs indicated that they would recommend gluten-free diet even without Celiac disease (p=0.015).

Conclusion: There are significant differences encompassing aspects of diagnosis, treatment and nutritional supplementation in HT between PEs and AEs.

Objective: The 2023 earthquake in southeastern Turkey significantly impacted physical and emotional well-being in the region. This study evaluates the earthquake's effects on glycemic control, diabetes management, and stress levels in children with type 1 diabetes (T1D).

Materials and methods: Seventy-nine pediatric T1D patients were assessed before and after the earthquake. Key parameters included glycated hemoglobin (HbA1c), insulin dosage, and psychological assessments using the Problem Areas in Diabetes Scale-Teen version (PAID-T) and the Post-Traumatic Stress Reaction Scale (PTSRS). Mixed-effects models were used to compare data across time points.

Results: Of the 79 participants, 45.6% were male, with a mean age of 143.5 ± 45.0 months. The earthquake disrupted insulin therapy in 36.7% of patients and caused glycemic control issues in 77.2%. HbA1c levels dropped from 9.7 ± 2.7% pre-earthquake to 8.8 ± 2.2% in the first 3 months, rose to 10.6 ± 1.9% in the following 3 months, and stabilized at 9.7 ± 1.9% by the fourth period. A positive correlation was observed between parental stress and children's HbA1c (r = 0.423, p = 0.031). Psychological effects were notable, with 43% reporting distress, and 63.3% experiencing loss of close family or friends. PAID-T scores were 42.0 ± 14.5 for children and 53.7 ± 12.8 for parents, with PTSRS scores of 35.1 ± 17.4.

Conclusions: The earthquake significantly affected glycemic control and psychological well-being in children with T1D. Fluctuations in HbA1c levels and the link between parental stress and glycemic outcomes emphasize the need for tailored interventions during crises.

Objective: ACTION Teens (NCT05013359) surveyed adolescents living with obesity (ALwO), their caregivers, and healthcare professionals (HCPs) in 10 countries to identify attitudes, perceptions, behaviors, and barriers preventing effective obesity care. This subanalysis identified key findings from Türkiye.

Methods: In Türkiye, 700 ALwO (aged 12-<18 years), 700 caregivers, and 324 HCPs completed a cross-sectional survey (September-November 2021).

Results: ALwO had poor mean World Health Organization-5 Well-Being Index (36.7) and Rosenberg Self-Esteem Scale (14.6) scores. Most ALwO (85%) were worried about their weight, and many ALwO (92%) and caregivers (96%) worried about weight affecting their/their child's future health. Additionally, many respondents agreed weight loss is completely the ALwO's responsibility (ALwO: 70%; caregivers: 47%; HCPs: 42%). Despite this, only 24% of ALwO reported being highly motivated to lose weight, although 59% reported a weight-loss attempt in the past year. Their most common weight-loss barrier was being unable to control hunger, according to ALwO (76%) and caregivers (73%). HCPs reported discussing weight with 42% of ALwO, on average, with 34% indicating insufficient time during appointments prevents them from discussing weight.

Conclusion: Compared with the global ACTION Teens analysis, a greater proportion of ALwO in Türkiye worried about weight impacting future health (92% vs 85%), yet a similar proportion had made a recent weight-loss attempt (59% vs 58%), perhaps due to lower motivation (24% vs 45%). Our results suggest ALwO in Türkiye require greater weight-management support, particularly support with controlling hunger; therefore, measures should be taken to reduce HCPs' time constraints.

Prolactinomas are the most common hormone-secreting pituitary adenomas in adolescents. Dopamine agonists (DA) are used as first-line medical treatment. DAs are associated with an array of physical side effects; however, impulse control disorders (ICDs), such as pathological gambling (PG), have also been reported in adults. A 15.7-year-old male with no psychiatric history was referred for headache and elevated prolactin (PRL) levels. He was diagnosed with PRL-secreting pituitary macroadenoma After initiating DA therapy with cabergoline (CBG), normalization of PRL levels and a considerable decrease in tumor size were observed. Central hypothyroidism and adrenal insufficiency present at the time of diagnosis were resolved. CBG dose was adjusted according to the test results over time. However, after two and a half years of therapy (while using 1.5 mg CBG per week), the patient developed PG, incurring debts and affecting familial relationships. Upon reducing the CBG dosage, PG symptoms ceased. This is the first case report of an adolescent with a prolactin-secreting macroadenoma who developed PG as a side effect of CBG treatment. This case highlights the need for careful monitoring of psychiatric symptoms in pediatric patients with prolactinoma on DAs.