Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency","authors":"Mehmet İsakoca, Şenay Erdeve, Semra Çetinkaya","doi":"10.4274/jcrpe.galenos.2024.2024-6-21-S","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-21-S","url":null,"abstract":"<p><p>Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta-hydroxy steroid dehydrogenase (3β-HSD) deficiency, 17-hydroxylase deficiency and lipoid CAH (LCAH) may also be encountered in clinical practice. 11β-OHD is the most common type of CAH after 21-OHD, and CYP11B1 deficiency in adrenal steroidogenesis causes the inability to produce cortisol and aldosterone and the excessive production of adrenal androgens. Although the clinical and laboratory features are similar to 21-OHD, findings of mineralocorticoid deficiency are not observed. 3β-HSD deficiency, with an incidence of less than 1/1,000,000 live births, is characterized by impairment of both adrenal and gonadal steroid biosynthesis very early in life, with inadequate virilization in boys and varying degrees of virilization in girls. It may present with salt wasting crisis or delayed puberty in both genders. While 46,XY disorders of sex development is frequently observed in boys with 17-hydroxylase deficiency, immature pubertal development and primary amenorrhea are observed in girls due to estrogen deficiency throughout adolescence. Patients with LCAH, which develops due to steroidogenic acute regulatory protein deficiency, typically present with salt wasting in the first year of life. It is characterized by complete or near-complete deficiency of adrenal and gonadal steroid hormones and progressive accumulation of cholesterol esters in the adrenal gland.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"23-32"},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Treatment and Follow-up of Non-stress Adrenal Insufficiency","authors":"Fuat Buğrul, Nurhan Özcan Murat","doi":"10.4274/jcrpe.galenos.2024.2024-6-23-S","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-23-S","url":null,"abstract":"<p><p>Adrenal insufficiency (AI) is defined as the inability of the adrenal cortex to produce adequate amounts of glucocorticoids and/or mineralocorticoids. As these hormones have important roles in water-salt balance and energy homeostasis, AI is a serious and potentially life-threatening condition. Glucocorticoid replacement therapy is vital in all cases of AI. In children with primary AI (PAI), it is recommended to start glucocorticoid replacement therapy with three or four doses of hydrocortisone and adjust according to individual need. Long-acting glucocorticoids such as prednisolone and dexamethasone are not recommended in children with AI. Mineralocorticoid and salt replacement therapy is also necessary in PAI with aldosterone deficiency. In childhood, it is recommended that patients are monitored at least every three to four months with clinical evaluation including weight gain, growth rate, blood pressure and general well-being of the patient. To prevent adrenal crisis in patients with PAI, glucocorticoid dose adjustment is recommended to patients and/or their families according to the magnitude and severity of the stress situation. This education should include recognition of conditions leading to adrenal crisis, signs of adrenal crisis and how to respond to an impending adrenal crisis. With long-term use of glucocorticoids, the lowest possible dose should be maintained to control the disease to avoid possible side effects. Here, members of the ‘Adrenal Working Group’ of ‘The Turkish Society for Pediatric Endocrinology and Diabetes’ present an evidence-based review with good practice points and recommendations for the diagnosis and follow-up of non-stress AI.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"93-101"},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730099/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term Complications and Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia","authors":"Aylin Kılınç Uğurlu, Elif Özsu, Zehra Aycan","doi":"10.4274/jcrpe.galenos.2024.2024-6-22-S","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-22-S","url":null,"abstract":"<p><p>Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency accounts for approximately 95% of all CAH cases and is one of the most common inborn errors of metabolism. While glucocorticoid therapy has significantly improved patient outcomes, the focus has shifted towards managing the long-term effects. Numerous adverse outcomes have been associated with CAH, including those resulting from supraphysiological doses of glucocorticoid and mineralocorticoid replacement, excessive adrenal androgen secretion, and elevated levels of steroid precursors and adrenocorticotropic hormone. Despite advances in treatment, long-term complications persist due to the inability to replicate physiological hormone secretion fully. In this review, we explore critical aspects of managing CAH, focusing on cardiometabolic health, bone integrity, fertility, and other significant long-term consequences, informed by the latest literature.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"60-65"},"PeriodicalIF":1.5,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11730098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare Cause of Neonatal Salt Wasting Syndrome: Clinical Management of a Case Diagnosed with Pseudohypoaldosteronism Due to a Novel Homozygous Variant in the <i>SCNN1B</i> Gene.","authors":"Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Kürşat Çetin, Nurten Özkan Zarif, Kıymet Çelik, Ercan Mıhçı, Özden Altıok Clark, Hale Tuhan, Mesut Parlak","doi":"10.4274/jcrpe.galenos.2024.2024-10-5","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-10-5","url":null,"abstract":"<p><p>Pseudohypoaldosteronism (PHA) is a rare disorder that, if not promptly recognized and treated, can lead to life-threatening hyperkalemia resulting in cardiac arrest and death. Systemic PHA is caused by variants that deactivate the epithelial sodium channel (ENaC) subunits. Management is challenging due to high-dose oral replacement therapy, and patients with systemic PHA require lifelong treatment. Here, we present the clinical course of a newborn diagnosed with PHA at 7 days of age due to severe dehydration, inadequate feeding, vomiting, and lethargy. The patient was found to be homozygous for the variant c.1234dup (p.Glu412Glyfs*39) in exon 8 of the <i>SCNN1B</i> gene. The patient had multiple hospitalizations during follow-up and died at the age of 10 months due to pneumonia. Maintaining a high clinical suspicion for PHA is crucial for initiating treatment and preventing potential cardiac arrest and death in these patients. Further research is needed to determine the significance of such novel mutations in this disease.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142899831","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Characteristics and Genotype-Phenotype Correlation in the Patients with the Diagnosis of Resistance to Thyroid Hormone Beta.","authors":"Gönül Büyükyılmaz, Büşranur Çavdarlı, Serkan Bilge Koca, Keziban Toksoy Adıgüzel, Oya Topaloğlu, Cevdet Aydın, Sema Hepsen, Erman Çakal, Nur Semerci Gündüz, Mehmet Boyraz, Fatih Gürbüz, Hüseyin Demirbilek","doi":"10.4274/jcrpe.galenos.2024.2024-8-14","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-8-14","url":null,"abstract":"<p><strong>Objective: </strong>Resistance to thyroid hormone beta (RTHβ) is a rare disorder characterized by a fairly heterogeneous clinical presentation due to varying degrees of tissue response to thyroid hormone. The study aimed to evaluate the clinical, laboratory features and genotype-phenotype relationship of Turkish patients with RTHβ.</p><p><strong>Methods: </strong>Patients who underwent a THRB gene analysis between September 2019 and September 2023 were retrospectively reviewed.</p><p><strong>Results: </strong>50 patients with the clinical features of RTHβ syndrome or a family history of an index case were included. A total of 8 different heterozygous pathogenic/likely pathogenic missense variants (3 novel) were detected in the THRB gene in 30 patients from 8 unrelated families. Although most patients with RTHβ were asymptomatic, 7 patients had various symptoms. Seven patients had received various treatments before diagnosis. Thyroid autoantibody was positive in 23% of all cases with a variant, and goitre was detected in 56% of children with a variant. While thyroid nodules were detected in 7 adult patients, two adult patients were being followed with papillary thyroid cancer. One child patient had attention-deficit disorder, learning disability, and type 1 diabetes mellitus. Of the 20 patients without a variant, TSHoma was detected in one.</p><p><strong>Conclusion: </strong>The present study, provides an overview of clinical and genetic characteristics of patients with genetically confirmed RTHβ and expanded the THRB gene variant database with 3 novel variants. Although most patients with RTHβ are asymptomatic, molecular genetics analysis of the THRB gene and regular follow-up for potential concurrent autoimmune diseases and thyroid cancer is warranted.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term Impact of Continuous Glucose Monitoring Assistance on Glycemic Control in Children and Adolescents with Type 1 Diabetes Following the 2023 Kahramanmaraş Earthquake.","authors":"Gürkan Tarçın, Nurgül Ataş, Mevra Yaşar, Kadriye Cansu Şahin, Gül Trabzon, İsmail Dündar, Dilek Çiçek, Hanife Gül Balkı, Hayrullah Manyas, Abdurrahman Bitkay, Can Celiloğlu, Semine Özdemir Dilek, Sümeyra Kılıç, Duygu Düzcan Kilimci, Aysun Ata, Emine Çamtosun, Eda Mengen, Murat Karaoğlan, Bilgin Yüksel, Seyit Ahmet Uçaktürk","doi":"10.4274/jcrpe.galenos.2024.2024-9-9","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-9-9","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to evaluate the impact of continuous glucose monitoring (CGM) assistance on glycemic control in children with type 1 diabetes (T1D) in earthquake-affected regions, comparing those who benefited from CGM with those who did not. Additionally, the study assessed changes in CGM metrics over nine months of CGM use.</p><p><strong>Methods: </strong>A multicenter, cross-sectional study was conducted across 11 centers in Türkiye. Children with T1D were divided into two groups: those who received CGM support (CGM+) and those who continued with finger-stick glucose monitoring (CGM-). HbA1c levels were measured at four intervals: pre-earthquake, 3-6 months, 6-9 months, and 9-12 months post-earthquake. In the second phase, CGM metrics were analyzed over 90-day intervals in the CGM+ group with at least 85% sensor usage.</p><p><strong>Results: </strong>A total of 532 children were included. Median HbA1c levels decreased from 9.1% pre-earthquake to 8.8% 3-6 months post-earthquake (p=0.027). In the CGM+ group, HbA1c levels significantly decreased from 8.8% to 8.3% (p<0.001), while no significant change was observed in the CGM- group. Of the 412 subjects with access to CGM reports, 105 (25.4%) had less than 85% sensor usage and were excluded. In the remaining 307 patients, there was a significant increase in active sensor time and daily glucose measurements, along with a reduction in hypoglycemia frequency over the 90-day intervals (p<0.001 for all three).</p><p><strong>Conclusion: </strong>CGM assistance improved glycemic control in children with T1D, even under the challenging conditions of the earthquake. These findings highlight the need for broader access to CGM devices to enhance diabetes management.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adaptation/Validity-reliability Evaluation of Menstruel Bleeding Questionnaire to Turkish Adolescent Girls.","authors":"Ayşe Aşık, Aşan Önder Çamaş, Hamdi Cihan Emeksiz","doi":"10.4274/jcrpe.galenos.2024.2024-2-12","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-2-12","url":null,"abstract":"<p><strong>Objective: </strong>The Menstrual Bleeding Questionnaire(MBQ) is a scale developed to identify women with heavy menstrual bleeding(HMB) and to assess its impact on quality of life. The aim of our study was to evaluate the validity and reliability of the Turkish adaptation of this scale for the adolescent age group.</p><p><strong>Material-method: </strong>MBQ was translated into Turkish and adapted to adolescent age. Face validity was achieved by applying the Turkish scale draft to the pilot group. To ensure concurrent validity, adapted MBQ(aMBQ) was first applied together with SF-36(short form-36). Afterwards, both questionnaires were applied to 251 adolescent girls and the reliability of the scale was evaluated by retesting on 63 adolescent girls.</p><p><strong>Results: </strong>The pilot study was implemented on ten adolescent girls with a median age of 14.5(13-16). There was a strong correlation between the first aMBQ and the re-test aMBQ application. The reliability coefficients of both SF-36 and aMBQ were above the acceptable limit. Kaiser-Meyer-Olkin sampling adequacy for the first application of aMBQ was found to be above the good level (KMO= 0.831, p<0.001). 48.73% eigenvalue was reached in four factors. When the pattern matrix of the first application of aMBQ was examined, distribution of the items was generally regular. When the ROC analysis of the aMBQ values was performed, the areas under the curve of the symptom effect (0.882), symptom (0.884) and severity (0.903) sub-dimension values were quite high. MBQ results revealed abnormal uterine bleeding in 11/251 (4.3%) cases.</p><p><strong>Conclusion: </strong>The Turkish adaptation demonstrated good internal consistency, high reliability, and acceptable validity. Applying MBQ to adolescent girls in our country will contribute to the evaluation of conditions associated with abnormal uterine bleeding.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878107","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Could MOTS-C Levels in Children with Type 1 Diabetes Mellitus Be an İndicator for Early Diabetic Kidney Disease?","authors":"İlknur Girisgen, Selda Ayça Altıncık, Esin Avcı, Murat Öcal, Tülay Becerir, Gaye Malaş Öztekin, Bayram Özhan, Selçuk Yuksel","doi":"10.4274/jcrpe.galenos.2024.2024-5-6","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-5-6","url":null,"abstract":"<p><strong>Objective: </strong>The aim of our study was to compare serum MOTS-c levels in children with Type 1 diabetes mellitus (T1DM) to those of healthy children. We also aimed to examine whether serum MOTS-c levels could be used as an early indicator of DKD by correlating with changes in GFR and microalbuminuria.</p><p><strong>Methods: </strong>We recruited 82 patients who were being treated for insulin-dependent diabetes at the outpatient pediatric endocrinology clinic. At study MOTS-c, urinary albümin excretion, eGFR, HbA1c were evaluated and diabetes-related clinical features and anthropometric measurements were collected. Patients were divided into subgroups according to diabetes duration, precence of albuminuria, glomerular hyperfiltration, eGFR decline and metabolic control.</p><p><strong>Results: </strong>The levels of MOTS-C were significantly lower in the Tip1DM group (76.2±1.3mg/dl) than in the control group (105.2±7.0, p=0.00). No significant difference in MOTS-c levels was found among the subgroups categorized by diabetes duration, obesity, metabolic control, hypertension and hyperlipidemia, glomerular hyperfiltration, decline in eGFR, and presence of microalbuminuria. The simple linear regression analysis results indicated that MOTS-C was not predictive for marker of diabetic kidney disease.</p><p><strong>Conclusions: </strong>In current study, MOTS-c was lower in the type 1DM group than in healthy children. However, the lack of association with microalbuminuria, hyperfiltration, and eGFR decline suggested that MOTS-c is not an early marker in diabetic kidney disease. This finding suggests that the onset of oxidative damage and mitochondrial dysfunction in T1DM is independent of diabetic kidney disease. Additionally, the study suggests that HBA1C and duration of diabetes are significant risk factors, while changes in eGFR and microalbuminuria continue to serve as indicators of diabetic kidney disease.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878341","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Effect of Parental Collaboration on Diabetes Self-Efficacy, Quality of Life and HbA1c Level in Adolescents Diagnosed with Type 1 Diabetes.","authors":"Beste Özgüven Öztornacı, Esra Ardahan Akgül, Nisa Yanar, Selda Akyol, Perihan Yetim, Gülay Baş, Hatice Yıldırım Sarı, Bumin Nuri Dündar","doi":"10.4274/jcrpe.galenos.2024.2024-4-7","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-4-7","url":null,"abstract":"<p><strong>Objective: </strong>Type 1 diabetes mellitus (T1D) is a chronic disease that is common in childhood and adolescence, where care and metabolic control are difficult for both adolescents and their parents. Parental participation in the care and treatment process, especially during adolescence when adolescents develop autonomy and take responsibility for self-care, affects both the adolescent's perception of autonomy and may cause difficulties in self-management. This study was conducted to determine the effect of parental support on adolescents' self-efficacy, quality of life (QoL) and glycaemic control in adolescents with T1D.</p><p><strong>Methods: </strong>This study was descriptive and cross-sectional. Descriptive questionnaires, The Collaborative Parental Involvement Scale for Adolescents with T1D, Diabetes Management Self-Efficacy Scale for Adolescents with T1D and QoL Scale in Children with Diabetes Mellitus (PedsQL 3.0) were administered to 79 adolescents with T1D. Adolescents were also asked about their HbA1c levels measured in the last 3 months.</p><p><strong>Results: </strong>There was no relationship between parental collaboration and adolescent's HbA1c levels. However, it was concluded that there was a positive and moderate relationship between parental collaboration and adolescent's QoL (p=0.043) and a positive and strong relationship between parental collaboration and adolescent's diabetes management self-efficacy (p=0.000).</p><p><strong>Conclusion: </strong>It was found that adolescents who followed up diabetes with the support of themselves and both parents especially their fathers, who were not school absenteeism and had regular blood glucose measurements had better QoL, there was no relationship between HbA1c levels and QoL, and there was a strong relationship between parental cooperation and adolescent self-efficacy in the same direction.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Permanent Neonatal Diabetes with High Insulin Requirements Due to a New Variant in the <i>INS</i> Gene.","authors":"Johana Andrea Botero Hernández, Gina González-Valencia, Vanessa Suarez, Gabriel Del Castillo","doi":"10.4274/jcrpe.galenos.2024.2024-7-11","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-7-11","url":null,"abstract":"<p><p>Neonatal diabetes is an infrequent disorder that may present as transient, permanent, or syndromic. It is most commonly caused by pathogenic variants involving the ABCC8, KCNJ11, and INS genes. To describe a neonate with permanent diabetes mellitus due to a previously unreported variant in the INS gene, outlining the diagnostic complexities, therapeutic interventions, and related clinical challenges. Neonate with symmetrical intrauterine growth restriction, who presented severe hyperglycemia not associated with ketosis or infectious. He had high insulin requirements and did not respond to sulfonylurea management. Anti-insulin and anti-islet pancreatic antibodies were negative. Genetic sequencing revealed a homozygous missense variant (c.3G>A, p.Met1Ile) in the INS gene, which had not been previously reported in the literature. Timely molecular diagnosis of neonatal diabetes enables optimization of management strategies, mitigating the long-term impact on growth, neurodevelopment, and the occurrence of hypoglycemic episodes.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}