Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"A novel homozygous missense <i>DNAJC3</i> variant in syndromic juvenile-onset diabetes.","authors":"Eda Mengen, Deniz Kor, Fatma Derya Bulut, Leman Damla Kotan, İhsan Turan, Bilgin Yüksel, Neslihan Önenli Mungan","doi":"10.1515/jpem-2025-0072","DOIUrl":"https://doi.org/10.1515/jpem-2025-0072","url":null,"abstract":"<p><strong>Objectives: </strong>The <i>DNAJC3</i> gene encodes a protein that acts as a cochaperone of binding immunoglobulin protein (BiP), a major member of the heat shock protein 70 (HSP70) family, which is found in the endoplasmic reticulum (ER) and promotes normal protein folding. Loss-of-function mutations in <i>DNAJC3</i> lead to early-onset diabetes and multisystemic neurodegeneration. In this article, we report a case of monogenic syndromic diabetes caused by a previously undescribed <i>DNAJC3</i> variant.</p><p><strong>Case presentation: </strong>A 15-year-old 5-month-old girl with polyuria and polydipsia for the last 2-3 months was diagnosed and treated as diabetic ketoacidosis at the center where she was admitted with complaints of general condition disorder and frequent breathing. Her laboratory findings were HbA1c 15.1 %, serum insulin 7.83 m U/L, C-peptide 0.78 μg/L. Tests for autoimmune diabetes markers were negative. Physical examination revealed severe short stature 141.4 cm (-3.62 SDS). Sensorineural hearing loss developed 5 months after the diagnosis of diabetes and intellectual functions were impaired. Neurologic examination revealed marked ataxia. Monogenic syndromic diabetes mellitus with multisystemic neurodegeneration including juvenile onset diabetes mellitus, ataxia, short stature and sensorineural hearing loss was considered. Exome sequencing and CNV (Copy Number Variation) analysis revealed a novel homozygous c.1244G>C (p.Arg415Pro) variant in <i>DNAJC3</i> gene.</p><p><strong>Conclusions: </strong>This case supports the wide phenotypic spectrum and multisystem involvement potential of <i>DNAJC3</i> variants and demonstrates the need to increase awareness in the diagnostic process of these rare genetic disorders..</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144328446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Testicular adrenal rest tumors in Indonesian boys with congenital adrenal hyperplasia.","authors":"Epifani A Chandra, Agustini Utari, Bas P H Adriaansen, Dineke Westra, Farah H Ningrum, Antonius G Santoso, Antonius E van Herwaarden, Hedi L Claahsen-van der Grinten","doi":"10.1515/jpem-2025-0026","DOIUrl":"https://doi.org/10.1515/jpem-2025-0026","url":null,"abstract":"<p><strong>Objectives: </strong>Male patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) are at risk of developing testicular adrenal rest tumors (TART), which are benign but an important cause of infertility. The limited medical infrastructure and lack of knowledge and awareness of 21OHD in Indonesia has contributed to missed or delayed diagnoses, leading to a reportedly low prevalence of 21OHD and an expected high rate of undiagnosed patients. In Indonesia, TART has not been widely reported, with only a single patient documented in a recent paper. This study aim was to define the potential risk factors for developing TART in Indonesian pediatric patients with 21OHD.</p><p><strong>Methods: </strong>This cross-sectional study was conducted in 20 boys with genetically proven 21OHD (0-18 years old). All had pathogenic variants associated with 0 % or 0-1% residual enzymatic activity. Medical history, clinical characteristics, genetic analysis results, biochemical measurements, bone age, and scrotal ultrasonography (US) data were evaluated.</p><p><strong>Results: </strong>In 5 of 20 patients (25 %), TART was detected by US. The patients with TART were mainly in puberty (p=0.014). Higher androstenedione levels and advanced bone age were associated with TART.</p><p><strong>Conclusions: </strong>TART is an important complication in Indonesian patients with 21OHD presenting before or during puberty. Factors associated with TART are pubertal age and longstanding poor hormonal control. Early diagnosis and optimization of treatment may help to prevent TART development and consequently improve fertility in these patients.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endocrinopathies associated with pediatric common variable immunodeficiency.","authors":"Jan Neneman, Marek Niedziela, Kamil Dyrka, Magdalena Banaszak-Ziemska, Cezary Miedziarek, Monika Obara-Moszynska, Aleksandra Szczawinska-Popłonyk","doi":"10.1515/jpem-2025-0112","DOIUrl":"10.1515/jpem-2025-0112","url":null,"abstract":"<p><strong>Objectives: </strong>The pediatric common variable immunodeficiency (CVID) is the most prevalent symptomatic antibody deficiency characterized by a marked heterogeneity of genetic underpinnings, immune system dysfunctions, and clinical manifestations encompassing susceptibility to infections and immune dysregulation disorders, thus increasing autoimmunity. Endocrinopathies associated with CVID have multifactorial etiology and usually lead to hypofunction of the affected organs. The aim of the study was to evaluate the parameters of endocrine homeostasis in children with CVID and to ascertain whether endocrinopathies are components belonging to the spectrum of organ-specific immunopathologies associated with this condition.</p><p><strong>Methods: </strong>The study cohort comprised 22 children (aged 5-17 years) with a confirmed diagnosis of common variable immunodeficiency (CVID) who were undergoing immunoglobulin replacement therapy. A range of anthropometric and hormonal parameters related to growth, thyroid, parathyroid, adrenal glands function, and calcium-phosphate metabolism were assessed.</p><p><strong>Results: </strong>Antithyroid peroxidase antibodies were identified in 81.81 % of children, while antipancreatic islet (GAD-Ab) antibodies were present in 59.09 %. Among those without preexisting diabetes, 50 % exhibited low C-peptide levels, while 35 % demonstrated both positive GAD-Ab and low C-peptide, with one case displaying elevated HbA1c. Vitamin D3 deficiency was identified in 50 % of patients, and 40.91 % exhibited elevated parathormone levels, suggestive of secondary hyperparathyroidism.</p><p><strong>Conclusions: </strong>Endocrinopathies, particularly autoimmune thyroiditis, are prevalent in pediatric CVID, reflecting the condition's immune dysregulation. Regular monitoring of clinical and hormonal parameters is essential for the provision of multidisciplinary care and the enhancement of patient outcomes.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144328448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Distinguishing organic from idiopathic central precocious puberty: clinical characteristics and predictive factors for organic etiology in a multicenter Italian cohort study.","authors":"Giorgio Sodero, Marilea Lezzi, Luigi Antonio Moscogiuri, Elena Malavolta, Federica Arzilli, Aniello Meoli, Anna Camporeale, Francesco Gallo, Donato Rigante, Clelia Cipolla","doi":"10.1515/jpem-2025-0174","DOIUrl":"https://doi.org/10.1515/jpem-2025-0174","url":null,"abstract":"<p><strong>Objectives: </strong>Central Precocious Puberty (CPP) is characterized by the early onset of secondary sexual characteristics before the age of 8 in girls and 9 in boys. While rapid progression of sexual development may indicate an underlying organic cause, such as the presence of anatomical abnormalities of the hypothalamic-pituitary axis, no definitive diagnostic standard exists. Therefore, diagnosis requires a comprehensive assessment incorporating clinical, biochemical, and radiological evaluations. The aim of this study is to identify clinical, hormonal, and radiological factors that differentiate idiopathic from organic CPP, in order to establish predictive criteria for the identification of organic etiology.</p><p><strong>Methods: </strong>A multicenter retrospective study was conducted on female patients diagnosed with CPP at two major Italian hospitals between January 2015 and February 2025. Clinical, hormonal, and radiological data were analyzed to differentiate between idiopathic and organic CPP. A total of 134 patients were included, all of whom underwent a GnRH stimulation test for diagnosis.</p><p><strong>Results: </strong>Among the 134 patients, 12 (9 %) were diagnosed with organic CPP. Patients with organic CPP were diagnosed at a younger age, exhibited higher growth velocity, and showed elevated basal and stimulated gonadotropin levels. Multivariate analysis identified several significant predictors of organic CPP, including age at diagnosis, LH peak, LH/FSH ratio, height SD, and growth velocity. ROC curve analysis demonstrated that an LH peak >9.1 mIU/mL and growth velocity >1.75 standard deviations (SD) were highly sensitive (80 %) and specific (85 %) indicators of organic CPP.</p><p><strong>Conclusion: </strong>Organic CPP is characterized by a younger age at diagnosis, faster progression of puberty, and higher gonadotropin levels compared to idiopathic CPP. An LH peak >9.1 mIU/mL and a growth velocity >1.75 SD should be considered key diagnostic markers for identifying organic causes of CPP and guiding further investigation and treatment.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144602799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison study of the correlation between free and total 25(OH)D in maternal and umbilical blood and early-life physical development parameters.","authors":"Zhihong Tian, Xiaoyan Xu, Xiaohui Gong, Suimin Zeng, Shibo Fu, Yumin Chen, Yide Yang, Guoying Sun, Mei Tian, Jian Li","doi":"10.1515/jpem-2025-0001","DOIUrl":"https://doi.org/10.1515/jpem-2025-0001","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the association between free and total 25(OH)D levels and fetal growth during pregnancy, and to evaluate whether free 25(OH)D is a better indicator of vitamin D status compared to total 25(OH)D.</p><p><strong>Methods: </strong>A total of 160 pregnant women and their newborns were consecutively recruited from a Jiangsu hospital (March-May 2019). Maternal blood was collected before delivery, and cord blood was collected after umbilical cord disconnection. Serum free and total 25(OH)D were measured by ELISA. Clinical data, including pregnancy records, neonatal assessments, and 6-month follow-ups, were extracted from electronic medical records. Associations between vitamin D levels and developmental outcomes were analyzed using univariate correlation analysis and multivariable linear regression in SPSS 20.0 (p<0.05).</p><p><strong>Results: </strong>Maternal-umbilical free 25(OH)D correlation was stronger than total (rho=0.699 vs. 0.475; both p<0.001). Maternal free 25(OH)D showed stronger associations with early pregnancy femur length (11.37 ± 3.39 mm; β=2.053), late pregnancy biparietal diameter (82.65 ± 4.60 mm; β=-0.273), and femur length growth efficiency (0.89 ± 0.15 mm/week; β=-0.289) than total 25(OH)D (all p<0.05). Umbilical free 25(OH)D correlated with mid-pregnancy transverse cerebellar diameter (22.0[21.0-23.0] mm; β=-0.231) and femur length growth efficiency (0.92[0.78-1.05] mm/week; β=-0.224) (p<0.05 and p<0.01). Maternal free 25(OH)D negatively associated with late pregnancy head circumference (330.11 ± 7.89 mm; β=-9.050, p<0.01).</p><p><strong>Conclusions: </strong>Compared to total 25(OH)D, free 25(OH)D in maternal and umbilical blood may be more strongly associated with early-life physical growth parameters.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets.","authors":"Abdulkerim Kolkiran, Tuğba Daşar, Abdullah Sezer","doi":"10.1515/jpem-2025-0041","DOIUrl":"https://doi.org/10.1515/jpem-2025-0041","url":null,"abstract":"<p><strong>Objectives: </strong><i>MMP13</i>-related metaphyseal dysplasia Spahr type, is an extremely rare skeletal disorder, and only a dozen patients with a confirmed molecular diagnosis have been reported. It is characterized by mild short stature, genu varum, and metaphyseal irregularities including fraying, splaying, and cupping of the long bones. The disorder is in the differential diagnosis of rickets, a relatively common disorder in childhood that shares similar clinical and radiological features with metaphyseal dysplasia.</p><p><strong>Case presentation: </strong>Herein, we present a 39-month-old girl patient who was initially evaluated for rickets due to mild short stature, bowing of the lower extremities, and metaphyseal changes. Biochemical tests including calcium, phosphate, alkaline phosphatase, and vitamin D levels were all within normal ranges. Radiographies revealed advanced bone age, mildly enlarged epiphyses, wide and irregular metaphyses of the long tubular bones, mildly thickened long tubular bones, and coxa vara. Clinical exome sequencing identified a homozygous variant in the <i>MMP13</i> gene, confirming the diagnosis of metaphyseal dysplasia Spahr type.</p><p><strong>Conclusions: </strong>We emphasize that metaphyseal dysplasias mimic the clinical and radiographic features of rickets and play a significant role in the differential diagnoses, particularly in patients presenting with short stature, genu varum, and metaphyseal irregularities, despite the absence of biochemical abnormalities. In accordance with the Nosology of Genetic Skeletal Disorders: 2023 Revision, we reinforce the dyadic naming system for the two groups of <i>MMP13</i>-related metaphyseal dysplasia, differentiated solely by their inheritance patterns, which also exhibit consistency with the location of the variants.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295624","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants.","authors":"Milena Bjelica, Aleksandra Stojadinović, Marija Knežević Pogančev, Katarina Koprivšek, Jӧrn Oliver Sass, Sarah C Grünert, Falko Wünsche, Raina Yamamoto","doi":"10.1515/jpem-2025-0156","DOIUrl":"https://doi.org/10.1515/jpem-2025-0156","url":null,"abstract":"<p><strong>Objectives: </strong>3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessive organic aciduria. Most patients present within the first year of life with metabolic decompensation, which can cause neurological damage or death if untreated.</p><p><strong>Case presentation: </strong>A 20-month-old previously healthy boy was admitted to the hospital after a nocturnal seizure. Upon admission, the child was unconscious and laboratory analysis revealed severe hypoglycemia and metabolic acidosis without ketonuria. Hypoglycemia was corrected with a bolus of 10 % glucose followed by continuous glucose-electrolyte infusion. Status epilepticus was treated with midazolam and phenobarbital. Magnetic resonance imaging (MRI) performed on the second hospital day, revealed bilateral and symmetric T2 hyperintense lesions in the cortex, supratentorial white matter, basal ganglia and central pons, along with slight white matter volume reduction. Urinary organic acids indicated HMGCLD. HMG-CoA lyase activity in immortalized lymphocytes was significantly decreased. Sanger sequencing of the <i>HMGCL</i> gene identified a heterozygous sequence variant, c.796T>C, p.(Cys266Arg). MLPA analysis showed a reduced gene dosage for exons 3 and 4 of <i>HMGCL</i>, consistent with a heterozygous deletion. Upon diagnosis, a low-protein diet was recommended, as well as oral l-carnitine therapy with a high-calorie supplement drink at night. Initially, the child had slightly impaired psychomotor development, which normalized by age 3.5. He was without metabolic crises or seizures since diagnosis.</p><p><strong>Conclusions: </strong>In any child presenting with hypoketotic hypoglycemia and metabolic acidosis of unknown etiology, HMGCLD should be considered. Given the rarity of HMGCLD and its sporadic cases across Europe, management should involve a well-experienced multidisciplinary team.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144295622","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oxidative stress in branched-chain organic acidemias using thiol-disulfide homeostasis.","authors":"Emine Göksoy, Burcu Kumru Akın, Mehmet Keskin, Hakim Çelik","doi":"10.1515/jpem-2025-0184","DOIUrl":"https://doi.org/10.1515/jpem-2025-0184","url":null,"abstract":"<p><strong>Objectives: </strong>Branched-chain organic acidemias (OAs) are inherited metabolic disorders resulting from enzyme deficiencies in the catabolic pathway of branched-chain amino acids, which could lead to mitochondrial dysfunction and oxidative stress. This study aimed to evaluate oxidative stress in OA patients using thiol-disulfide homeostasis (TDH) parameters.</p><p><strong>Methods: </strong>21 OA patients [methylmalonic acidemia (MMA), propionic acidemia (PA), and isovaleric acidemia] and 12 healthy controls participated in this study. TDH parameters such as native thiol, total thiol, and disulfide levels, in addition to Oxidative Stress Index, Total Antioxidant Status, and Total Oxidant Status were analyzed using spectrophotometry.</p><p><strong>Results: </strong>The OA group had significantly lower native (p=0.004) and total thiol (p=0.006) levels compared to controls. When analyzing subgroups, native thiols were found to be lower in MMA (p=0.012) and in PA (p=0.008) with elevated disulfides in MMA (p=0.003) in comparison to both PA and controls. As compared to abnormal neurodevelopmental status, there was a statistically significant relationship with lower native thiols and a shift towards oxidative stress (p=0.004).</p><p><strong>Conclusions: </strong>The parameters of the TDH are altered in patients with OA, especially in those with MMA and PA, indicating a significant level of oxidative stress. The neurodevelopmental outcome in OA may be exacerbated by this oxidative imbalance. The utilization of TDH as a biomarker may be a potential provider of oxidative status in OA patients and facilitate informing therapeutic strategies.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144210735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is L-dopa test effective in detecting adrenal insufficiency with preliminary diagnosis of growth hormone deficiency in children with short stature?","authors":"Gülümay Vural Topaktaş, Eren Er, Sevim Onguner, Benay Turan, Bumin Nuri Dündar","doi":"10.1515/jpem-2025-0143","DOIUrl":"https://doi.org/10.1515/jpem-2025-0143","url":null,"abstract":"<p><strong>Objectives: </strong>Growth hormone (GH) deficiency in children is characterized by impaired linear growth and reduced growth velocity, necessitating confirmation through two GH stimulation tests. At the time of diagnosis, approximately 4 % of children with GH deficiency exhibit concomitant adrenocorticotropic hormone (ACTH) deficiency, a prevalence that increases to 12 % over the course of follow-up. The insulin tolerance test is regarded as the gold standard for assessing both cortisol and GH secretion; however, its clinical application is constrained by potential risks and the requirement for close medical supervision. This study aims to evaluate the effect of the L-dopa stimulation test on cortisol secretion in pediatric patients with short stature.</p><p><strong>Methods: </strong>This retrospective study included 138 children (65 females, 73 males) who underwent the L-dopa stimulation test for the assessment of GH deficiency at the Pediatric Endocrinology Clinic between January 2010 and December 2023. Serum cortisol concentrations were measured at the 90th and 120th min of the test. Patients with a peak cortisol response <18 μg/dL subsequently underwent a low-dose (1 μg) ACTH stimulation test to further evaluate adrenal function. Clinical, anthropometric, and biochemical data were extracted from medical records and subjected to statistical analysis.</p><p><strong>Results: </strong>The mean age of the study cohort was 9.34 ± 3.79 years, with 65 (47.1 %) female and 73 (52.9 %) male patients. The mean height standard deviation score (SDS) was -2.62 ± 0.83, while the mean weight SDS was -1.81 ± 1.09. The mean peak GH response was 5.64 ± 4.0 ng/mL following the clonidine stimulation test and 7.29 ± 5.23 ng/mL following the L-dopa test. A total of 35 children exhibited a peak cortisol response <18 μg/dL during the L-dopa test. Among these, 35 underwent a low-dose (1 μg) ACTH stimulation test, and 7 patients (20 % of those tested; 5.1 % of the total cohort) were diagnosed with adrenal insufficiency, defined as a peak cortisol response <18 μg/dL. These patients were initiated on oral hydrocortisone therapy. Comparative analyses between patients with normal vs. impaired ACTH test responses (<18 μg/dL vs. ≥18 μg/dL) revealed no statistically significant differences in peak cortisol response to the L-dopa test, peak GH response to clonidine or L-dopa, age at presentation, gender, weight SDS, or height SDS.</p><p><strong>Conclusions: </strong>The L-dopa stimulation test may represent a valuable adjunctive tool for the evaluation of cortisol sufficiency in children undergoing assessment for suspected GH deficiency. However, further prospective studies with larger sample sizes and standardized protocols are warranted to validate its diagnostic accuracy and clinical utility in detecting adrenal insufficiency.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144188798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparison of the clinical characteristics of children with Silver-Russell syndrome genetically confirmed or not and their response to growth hormone therapy: a national multicenter study.","authors":"İlker Tolga Özgen, Tuğçe Kandemir, Melek Yıldız, Şükran Poyrazoğlu, Zeynep Şıklar, Nilay Sema Abseyi, Merih Berberoğlu, Semra Çetinkaya, Senem Esen, Nursel Muratoğlu Şahin, Şükran Darcan, Deniz Özalp Kızılay, Ahmet Uçar, Hasan Karakaş, Olcay Evliyaoğlu, Leyla Akın, Murat Aydın, Atilla Çayır, Korcan Demir, Gözde Akın Kağızmanlı, Şükrü Hatun, Gül Yeşiltepe Mutlu, Elif Eviz, Bahar Özcabı, Hatice Nursoy, Semra Bahar, Zümrüt Kocabey Sütçü, Feyza Darendeliler","doi":"10.1515/jpem-2024-0587","DOIUrl":"https://doi.org/10.1515/jpem-2024-0587","url":null,"abstract":"<p><strong>Objectives: </strong>Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by intrauterine and postnatal growth retardation. Its genetic etiology shows a heterogeneous distribution. This study aimed to evaluate the clinical characteristics of children diagnosed with SRS, their response to growth hormone therapy, and compare the data of genetically confirmed and clinically diagnosed SRS cases.</p><p><strong>Methods: </strong>A total of 69 patients were included in the study. Genetically confirmed cases were considered Group 1, and cases with a clinical diagnosis according to the Netchine-Harbison scoring system were considered Group 2. The anthropometric data of the patients at birth, at the time of diagnosis, before and during the first year of growth hormone (GH) treatment, final height-SDS values of patients who reached final height, and accompanying comorbidities were recorded.</p><p><strong>Results: </strong>In Group 1, 75.8 % had hypomethylation in the ICR1 region, 13.7 % had maternal uniparental disomy 7, 6.8 % had an IGF-2 mutation, and 3 % had a duplication in the 11p15 region. Central precocious puberty, gastroenterological, and neurologic comorbidities were found to be more frequent than those from other systems. Final height-SDS was -2.32 ± 1.57 (n=5) in Group 1 and -2.41 ± 0.86 (n=5) in Group 2.</p><p><strong>Conclusions: </strong>11p15 LOM was the most common genetic disorder in children with SRS in our case series. Gastroenterological problems and neurologic complications were observed frequently in these cases. Central precocious puberty was more commonly observed compared to the general population. The duration of treatment was the most critical factor in the success of GH therapy.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144183510","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}