Annals of Pediatric Endocrinology & Metabolism最新文献

Purpose: This study aimed to examine the effects of gonadotropin-releasing hormone agonist (GnRHa) treatment on final height outcomes in girls with idiopathic central precocious puberty (CPP) from the start of treatment to their postmenarche visit.

Methods: We conducted a retrospective analysis of 200 girls with idiopathic CPP who received GnRHa therapy, focusing on auxological and clinical outcomes at treatment initiation, treatment completion, and the last, postmenarche visit.

Results: The mean chronological age (CA) at GnRHa treatment initiation was 8.24±0.73 years. The mean duration of GnRHa treatment was 3.12±0.81 years. The average age at menarche was 12.73±0.56 years, occurring a mean of 17.15±5.52 months after completing GnRHa therapy. The predicted adult height (PAH) standard deviation score (SDS) after menarche (0.48±0.99) was significantly greater than before treatment (-1.33±1.46) (P<0.001). Factors including greater bone age advancement (P<0.001), lower height SDS for CA at treatment initiation (P<0.001), and higher midparental height SDS (P=0.001) were positively associated with an increase in PAH SDS at the last visit. However, near-final height and the increase in PAH SDS at the last visit were not significantly different between patients who received early treatment (<8 years) and those who received later treatment (8-9 years).

Conclusion: GnRHa treatment improved the final height outcomes in all girls with CPP, including those treated between 8 and 9 years of age.

Fatty acids play critical roles in maintaining the cellular functions of T cells and regulating T-cell immunity. This review synthesizes current research on the influence of fatty acids on T-cell subsets, including CD8+ T cells, TH1, TH17, Treg (regulatory T cells), and TFH (T follicular helper) cells. Fatty acids impact T cells by modulating signaling pathways, inducing metabolic changes, altering cellular structures, and regulating gene expression epigenetically. These processes affect T-cell activation, differentiation, and function, with implications for diseases such as autoimmune disease and cancer. Based on these insights, fatty acid pathways can potentially be modulated by novel therapeutics, paving the way for novel treatment approaches for immune-mediated disorders and cancer immunotherapy.

Purpose: There is controversy as to whether brain magnetic resonance imaging (MRI) should be performed on all children with growth hormone deficiency (GHD) including those judged to have mild GHD. This study was aimed to determine the frequency of pituitary or intracranial abnormalities in pediatric GHD and to identify risk factors that may predict pituitary or intracranial abnormalities.

Methods: A total of 95 pediatric GHD patients were included. Their medical records and brain magnetic resonance (MR) images were reviewed retrospectively.

Results: Abnormal pathogenic MR images were found in 14 patients (14.7%), including 10 (10.5%) with pituitary hypoplasia and 4 (4.2%) with pituitary stalk interruption syndrome. Serum levels of insulin-like growth factor-I (IGF-I), IGF-I standard deviation score (SDS), insulin-like growth factor binding protein 3 (IGFBP3), and growth hormone (GH) peak level of GH stimulation test were statistically significantly lower in the group with abnormal brain MRI. The frequency of abnormal MRI was statistically significantly higher in the complete GHD group. IGF-1 SDS showed the highest area under the curve which can predict the presence of brain abnormality with a sensitivity of 85% and a specificity of 71.4%, if IGF-1 SDS was less than -1.365. IGF-1, IGFBP3, and GH peak levels also showed good sensitivity of over 80% for predicting brain abnormalities with cutoff values of 70.285 ng/mL, 1,604 ng/mL, and 4.205 ng/mL, respectively.

Conclusion: The sensitivity and specificity of each cutoff value of IGF-1, IGF-1 SDS, IGFBP3, and GH peak levels were good and statistically significant in predicting brain MRI abnormalities. However, it was insufficient to predict all brain abnormalities with these variables. Therefore, we would like to recommend performing a brain MRI if a child is diagnosed with GHD.

Purpose: We compared the age at menarche and standard deviation score (SDS) of final height (FH) in permanent congenital hypothyroidism (CH) patients with those of healthy female adolescents and assessed their associations with CH screening-related variables or demographic factors.

Methods: In this cross-sectional study, we included 207 female CH patients and 598 healthy age-matched female adolescents. Ages at puberty onset and menarche, height at puberty and menarche, and the FH and its SDS were evaluated in the 2 groups and compared. Associations between screening variables and anthropometric data with age at menarche and SDS of FH were also assessed in CH patients.

Results: In the included population, 113 patients with CH and 453 healthy girls attained their FH. The mean ages at puberty onset and menarche in CH patients were higher than those in the healthy population (P<0.05). The mean height at menarche and the FH and its SDS were not different between the 2 groups (P>0.05). There was no significant association between FH SDS in CH patients and age of treatment (P=0.30). Age at menarche was significantly higher in CH patients with delayed age at treatment initiation (P=0.04). The difference between FH and target height was not significantly different among CH patients (P=0.83).

Conclusion: While CH patients had a significantly higher age at menarche compared to the healthy population, appropriate treatment changed this age to be similar to that in the healthy group. However, CH patients who experienced delayed treatment had a higher age at menarche. Age at treatment initiation was the only screening-related variable related to age at onset of menarche and puberty.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022-2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980-2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Purpose: To investigate the clinical characteristics and genetic features of childhood-onset congenital combined pituitary hormone deficiency (cCPHD) in Korean patients.

Methods: We retrospectively analyzed 444 patients diagnosed with childhood-onset CPHD at a tertiary center between 1994 and 2021. After excluding acquired case, 43 patients with cCPHD were enrolled. Anthropometric measurements, hormone evaluations, brain magnetic resonance imaging (MRI), extrapituitary phenotypes, and adult outcomes were analyzed. Genetic analyses were performed on 26 patients using a targeted gene panel or whole exome sequencing.

Results: Mean age at diagnosis was 3.2 years, and 41.9% were diagnosed at less than 1 year old. Short stature was the most frequent (37.2%) initial presentation, and mean height z-score was -2.4. More than half (n=23, 53.5%) of patients had neonatal features suggestive of hypopituitarism; however, only 15 (65.2%) were diagnosed in infancy. Growth hormone deficiency (GHD) was prevalent in 42 (97.7%), and 33 (76.7%) had 3 or more hormone deficiencies. Extrapituitary phenotypes were identified in 31 (72.1%). Brain MRI abnormalities correlated with a higher number of hormone deficiencies (P for trend 0.049) and were present in 33 patients (80.5%). Adult GHD was diagnosed in all 17 investigated patients, and metabolic disturbances were noted in 10 (58.9%). Pathogenic variants in POU1F1, GLI2, HESX1, TBC1D32, and ROBO1 were found in 5 (19.2%).

Conclusion: Considering the high proportion of neonatal presentations, identification of the early neonatal features of hypopituitarism to manage pituitary and extrapituitary phenotypes is critical. The genetic etiology of cCPHD warrants further exploration.