Journal of Clinical Research in Pediatric Endocrinology最新文献

Childhood-onset lymphocytic infundibuloneurohypophysitis (LINH) has rarely been reported. Pathological evaluation via pituitary biopsy is necessary for a definitive diagnosis of LINH. However, pituitary biopsy is a highly invasive procedure. Recently, anti-rabphilin-3A antibody (RPH3A-Ab) has been reported as a promising diagnostic marker for LINH in adults but.there are few reports of this association in the pediatric population. We report the case of an 8-year-old boy with central diabetes insipidus (CDI) who was diagnosed clinically with LINH, based on RPH3A-Ab positivity. He was initially diagnosed with CDI using a water deprivation test combined with desmopressin administration. Serum and cerebrospinal fluid tumor markers were negative, and T1-weighted magnetic resonance imaging (MRI) revealed the absence of high signal intensity in the posterior pituitary gland and an enlarged pituitary stalk. Anterior pituitary function tests revealed no abnormalities. No pituitary biopsy was performed because of its invasive nature, and desmopressin treatment was initiated. Three months after the diagnosis of CDI, the patient tested positive for RPH3A-Ab. MRI performed nine months after CDI diagnosis revealed amelioration of the pituitary stalk enlargement, and this clinical course corroborated our diagnosis of LINH. RPH3A-Ab may be useful as an early diagnostic tool for LINH in the pediatric population.

Objective: Obesity is associated with an increased risk of polycystic ovary syndrome (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: 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: A total of 421 patients were included in the study. 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 challenging. 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: 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. Given the role of neudesin in brain development and its contribution to the survival of mature neurons, the relationship between neudesin and thyroid hormone was evaluated in babies diagnosed with CH.

Methods: Babies aged between 2-4 weeks and diagnosed with CH and healthy controls of similar age were included. 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: Fifty-two babies [32 with CH, 14 (44%) female, aged 19±7 days and 20 healthy controls, 7 (35%) female, aged 22±8 days] were included. There was no significant difference in baseline neudesin between the CH and control groups (6.77±6.41 vs. 7.93±7.04 ng/mL, respectively; p=0.552). However, neudesin levels increased significantly following one month of therapy in the CH group [median: 3.93 (minimum: 0.31, maximum: 30.06) vs. median: 6.15 (minimum: 2.17, maximum: 70.05) ng/mL, p=0.019].

Conclusion: Although there was no difference in baseline neudesin levels between the patient and control groups, neudesin levels increased after short-term treatment. Larger prospective studies are needed to understand the pathophysiological role of neudesin in untreated and treated early CH.

Objective: This study aimed to determine the normal values of thyroid volume and tracheal index in healthy, term newborns born in an iodine-sufficient population. Moreover, the usability of a handheld device for assessing tracheal index was assessed.

Methods: Thyroid imaging was performed at 0-2 days and 15-30 days using handheld and portable ultrasound (US) devices. Thyroid volume and tracheal index were calculated using standard formulae.

Results: A total of 144 healthy, term newborns with a mean birth weight 3230 g were enrolled. The normal thyroid volume for the entire population was 0.66±0.25 mL at 0-2 days, which significantly increased to 1.12±0.33 mL at 15-30 days (p<0.01). There were no significant differences in thyroid volume between genders in either age group (p=0.246 and p=0.879). Thyroid volume correlated with birth weight, length, and head circumference, with the strongest correlation being with birth weight (r=0.404, p<0.001; r=0.252, p=0.002; r=0.223, p=0.007, respectively). The tracheal index at 0-2 days was 1.84±0.30 in girls, 1.82±0.27 in boys, and 1.83±0.29 overall. At 15-30 days, it was 1.99±0.23 in girls, 2.00±0.28 in boys, and 1.99±0.25 overall. Similar to thyroid volume, the tracheal index increased significantly with age (p<0.01), with no significant gender differences in either age group (p=0.593 and p=0.886). Thyroid volume and tracheal index were moderately correlated in both measurements (rho=0.538, p<0.01). Measurements of the trachea, and thyroid lobe widths using portable and handheld US devices were positively correlated (r=0.449, p<0.01; r=0.638, p<0.01; r=0.497, p<0.01). There was also a correlation between tracheal index measurements using both devices at both the first and second measurements.

Conclusion: This study provides normative data for thyroid volumes and tracheal index in newborns from an iodine-sufficient population. The tracheal index may be used to estimate thyroid size when volume calculation is not feasible. Handheld US devices are effective for this assessment.

Objective: 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 and only 5% among AEs. Respondents median age was 41 years. The use of “only thyroid peroxidase autoantibodies” was preferred more frequently by AEs (28.3%) than by 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% for AEs and 62.3% for 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). Moreover, 44% of PEs stated that they would attempt treatment discontinuation in euthyroid patients at the end of puberty. The rate of those who were undecided about selenium supplementation was higher amongst PEs (41%) than among AEs (21.7%) (p=0.007). Although none of the PEs recommended gluten restriction, 6.5% of the AEs indicated that they would recommend gluten-free diet even without Celiac disease (p=0.015).

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

We report an adolescent boy diagnosed with ectopic adrenocorticotropin hormone syndrome (EAS) due to an atypical bronchial carcinoid. The patient was managed by a multidisciplinary team. He underwent surgery and subsequent chemotherapy and radiotherapy treatments. The patient is still under our follow-up. At the time of writing, eighteen pediatric and adolescent patients with EAS because of bronchial carcinoid tumors have been reported. EAS due to bronchial carcinoids is very rare in children and adolescents. Careful diagnostic evaluation and rapid treatment should be started immediately. Although complete remission is possible, atypical carcinoids have a more aggressive nature. A multidisciplinary approach and follow-up is recommended in terms of quality of life and survival.

Objective: The 2023 earthquakes in southeastern Türkiye significantly impacted physical and emotional well-being in the region. This study evaluated the effect of the earthquakes on glycemic control, diabetes management, and stress levels in children with type 1 diabetes mellitus (T1DM).

Methods: Pediatric T1DM 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 (PAID-T) version 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 three months, rose to 10.6±1.9% in the following three 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. The mean PAID-T scores were 42.0±14.5 for children and 53.7±12.8 for parents, indicating a moderate to high level of diabetes-related distress in both groups. Although no validated cut-off score exists for the PAID-T, higher values reflect a greater perceived burden. The mean PTSRS score was 35.1±17.4, which corresponds to a moderate level of post-traumatic stress reaction based on established cut-off values 35.1±17.4.

Conclusion: The earthquake significantly affected glycemic control and psychological well-being in children with T1DM. Fluctuations in HbA1c levels and the link between parental stress and glycemic outcomes suggest a need for tailored interventions during crises.

Autoimmune polyendocrine syndrome type 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is a rare monogenic autosomal recessive autoimmune disease. It is caused by mutations in the autoimmune regulator (AIRE) gene. APS-1 is diagnosed clinically by the presence of two of the three major components: chronic mucocutaneous candidiasis, hypoparathyroidism (HPT), and primary adrenocortical insufficiency. A 3.3-year-old girl presented with a carpopedal spasm to the pediatric emergency clinic. She had a history of recurrent keratitis, and chronic candidiasis, manifesting as urinary tract infections and oral thrush. HPT was diagnosed based on low serum concentrations of calcium and parathyroid hormone and elevated serum concentrations of phosphate, and treatment with calcium and calcitriol supplementation was started. Genetic testing identified a homozygous nonsense mutation, c.769C>T (p.R257X), in exon 6 of AIRE which has been reported previously. At the age of 5.6 years, she presented with adrenal crisis, and treatment with hydrocortisone and fludrocortisone was started. This case demonstrates that unexplained chronic keratitis in children may be the first and most severe component of this syndrome. The classic triad of APS-1 may also appear in the first decade of life.

Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare fibroblast growth factor-23-independent disorder caused by biallelic variants in the SLC34A3 gene. The disease severity varies, and patients have an increased risk of developing renal complications. Phosphate supplementation is the standard of care and active vitamin D analogs are not indicated as they could worsen the hypercalciuria. We report a Brazilian girl with HHRH who presented with knee pain and progressive genu valgum deformity that became apparent from the age of eight years onwards. Nephrocalcinosis was also identified at age 13 years. Targeted next-generation sequencing for hereditary forms of rickets detected compound heterozygous pathogenic variants in SLC34A3, including a novel missense variant c.1217G>T (p.Gly406Val). Compliance to oral phosphorus therapy was suboptimal and adjunctive chlorthalidone therapy improved hypercalciuria. This report highlights the phenotypic variability and also expands the list of SLC34A3 variants associated with HHRH. An accurate diagnosis is key for optimal treatment. Of note, thiazide diuretics may be useful as adjunctive therapy for controlling hypercalciuria.

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. Furthermore, 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%). These results suggest ALwO in Türkiye require greater weight-management support, particularly support with controlling hunger and so, measures should be taken to reduce HCPs’ time constraints.