Journal of Clinical Research in Pediatric Endocrinology最新文献

{"title":"Diazoxide-unresponsive Hyperinsulinemic Hypoglycaemia in a Preterm Infant with Heterozygous Insulin Receptor Gene Mutation","authors":"Sarah Wing Yiu Poon, Brian Hon Yin Chung, Mabel Siu Chun Wong, Anita Man Ching Tsang","doi":"10.4274/jcrpe.galenos.2023.2022-12-10","DOIUrl":"10.4274/jcrpe.galenos.2023.2022-12-10","url":null,"abstract":"<p><p>Homozygous or compound heterozygous mutations in insulin receptor gene (<i>INSR</i>) lead to marked insulin resistance and hyperglycaemia in Donohue syndrome and Rabson-Mendenhall syndrome, conditions which are associated with significant morbidity early in life. In contrast, heterozygous <i>INSR</i> variants result in a milder phenotype, known as type A insulin resistance syndrome. While presentation in adults with this condition is well reported, phenotypes in infant are less well-characterized. Herein, we report an infant presenting with hyperinsulinemic hypoglycaemia who did not respond to diazoxide therapy. She was subsequently found to have a heterozygous <i>INSR</i> gene mutation. The patient was a female infant born at 29 weeks of gestation who developed recurrent hypoglycaemia in early infancy. Workup showed hyperinsulinism and she was started on first-line therapy with diazoxide and high-calorie feeds. However, continuous blood glucose monitoring showed post-prandial hyperglycaemia followed by rapid fall to hypogylcaemia. Whole exome sequencing was performed to investigate for diazoxide-unresponsive hyperinsulinism, which revealed a likely pathogenic mutation in the <i>INSR</i> gene, c.1246C>T p. (R416X). This nonsense mutation was inherited from the father. With the molecular diagnosis, diazoxide was stopped and she followed a diet with low glycaemic-index food. Subsequent monitoring showed stable glucose profile. This case highlights the importance of considering type A insulin resistance syndrome when no mutation is found in the <i>ABCC8/KCNJ11</i> genes in diazoxide-unresponsive hyperinsulinism. With autosomal dominant inheritance, cascade screening should be performed in family members to identify those harbouring the mutation as they are at risk of early onset diabetes.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"115-119"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923500/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9380035","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":"Inequalities in Access to Diabetes Technologies in Children with Type 1 Diabetes: A Multicenter, Cross-sectional Study from Türkiye","authors":"Kağan Ege Karakuş, Sibel Sakarya, Ruken Yıldırım, Şervan Özalkak, Mehmet N Özbek, Nurdan Yıldırım, Gülcan Delibağ, Beray S Eklioğlu, Belma Haliloğlu, Murat Aydın, Heves Kırmızıbekmez, Tuğba Gökçe, Ecem Can, Elif Eviz, Gül Yeşiltepe-Mutlu, Şükrü Hatun","doi":"10.4274/jcrpe.galenos.2024.2024-4-6","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-4-6","url":null,"abstract":"<p><strong>Objective: </strong>To determine inequalities in access to diabetes technologies and the effect of socioeconomic factors on families with children with type 1 diabetes.</p><p><strong>Methods: </strong>In this multicenter, cross-sectional study, parents of children with type 1 diabetes completed a questionnaire about household sociodemographic characteristics, latest hemoglobin A1c (HbA1c) values, continuous glucose monitoring (CGM) and insulin pump use of children, the education and working status of parents. These characteristics were compared between technology use (only-CGM, only-pump, CGM+pump, no technology use).</p><p><strong>Results: </strong>Among 882 families, only-CGM users, only-pump users, and CGM+pump users were compared with no technology users, adjusting for age, sex, region, education levels, number of working parents, and household income. Children living in the least developed region had lower odds of having only-CGM [odds ratio (OR)=0.20, 95% confidence interval (CI): 0.12-0.34, p<0.001] and having CGM+pump (OR=0.07, 95% CI: 0.03-0.22, p<0.001) compared with those living in the most developed region. Children with parents who had not finished high school had lower odds of having only-CGM (mothers: OR=0.36, 95% CI: 0.19-0.66, p=0.001; fathers: OR=0.32, 95% CI: 0.18-0.60, p<0.001) or both CGM+pump (mothers: OR=0.27, 95% CI: 0.11-0.64, p=0.003; fathers: OR=0.34, 95% CI: 0.15-0.79, p=0.012) rather than no-technology compared to children whose parents have a university degree. Every $840 increase in the household income increased the odds by 5% for having only-CGM (OR=1.05, 95% CI: 1.02-1.09, p<0.001) or CGM+pump (OR=1.05, 95% CI: 1.01-1.08, p<0.001).</p><p><strong>Conclusion: </strong>Socioeconomic factors, such as parental education, region of residence, and income were associated with inequality in access to technologies. The inequalities are more prominent in access to CGM.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"17-25"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923490/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493996","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":"Clinical and Molecular Landscape of Weiss-Kruszka Syndrome: A Case Report and Literature Review.","authors":"Lele Li, Chunxiu Gong","doi":"10.4274/jcrpe.galenos.2024.2024-8-4","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-8-4","url":null,"abstract":"<p><p>Weiss-Kruszka syndrome (WSKA; OMIM#618619) is a rare condition with multiple congenital anomalies. This study describes a patient with WSKA from Northern China. The patient was a 9-year-9-month-old boy presenting with growth retardation (growth velocity: 3-4 cm/year at school age), delayed motor and speech development, and eating difficulty. The patient's weight was 22 kg (<3rd centile), and his height was 125.6 cm (<3rd centile) at the first visit. He had craniofacial anomalies characterized by heavily arched eyebrows, mild bilateral ptosis, inner epicanthal folds, uneven teeth, macrodontia of the upper central incisors, and low-set ears. A transverse palmar crease was observed on the right palm. The serum insulin-like growth factor-1 level was 73.1 ng/mL (normal range: 74-388 ng/mL). His bone age was 9-10 years. Cranial magnetic resonance imaging results revealed a small pituitary gland. Trio whole-exome sequencing was performed because of the patient's nonspecific dysmorphic features and a phenotype indistinguishable from many other inherited disorders with growth retardation. A de novo splicing variant, c.6833-2A > T, was identified in the ZNF462 gene (NM_021224). Recombinant human growth hormone therapy was started (dose, 0.15 IU/kg/day) and administered as daily subcutaneous injections. His growth velocity increased (5 cm/6 months). This case has been added to the limited number of publications reporting WSKA. This study also examined the genotypic and phenotypic landscape of WKSA, providing clinical and genetic data to support the haploinsufficiency of the ZNF462 gene, as postulated by previous studies.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659273","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":"Xp21 Contiguous Gene Deletion Syndrome: Diagnosis, Treatment, and a Review of the Literature on a Rare Genetic Disorder.","authors":"Berna Singin, Zeynep Donbaloğlu, Ebru Barsal Çetiner, Aynur Bedel, Kürşat Çetin, Belgin Akcan Paksoy, Tarkan Kalkan, Halide Akbaş, Hale Ünver Tuhan, Mesut Parlak","doi":"10.4274/jcrpe.galenos.2025.2024-12-4","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2025.2024-12-4","url":null,"abstract":"<p><p>Xp21 contiguous gene deletion syndrome is an uncommon genetic condition associated with complex glycerol kinase deficiency (<i>GK</i>), congenital adrenal hypoplasia (<i>NR0B1</i>), Duchenne muscular dystrophy (<i>DMD</i>), and, in some cases, intellectual disability. Clinical findings vary based on the size of the deletion and the number of affected genes. To date, over 100 male patients with this syndrome have been reported, while the number of symptomatic female carriers is quite limited. In this article, we present the diagnosis and treatment process of a case exhibiting dysmorphic facial features, signs of adrenal insufficiency, pseudo-hypertriglyceridemia, and elevated creatine phosphokinase levels. The patient's serum 17-hydroxyprogesterone levels were normal, and the adrenal glands were not observable via magnetic resonance imaging. An Xp21.2 deletion (<i>DMD, NR0B1, GK, IL1RAPL1</i>) was identified in the case. The treatments of hydrocortisone, fludrocortisone, and oral salt have been arranged. Our case highlights the rare yet significant clinical and genetic diversity of Xp21 contiguous gene deletion syndrome.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143659281","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":"Gender Difference and Changes in the Prevalence of Obesity Over Time in Children Under 12 Years Old: A Meta-analysis","authors":"Xuefeng Chen, Wei Wu, Jinna Yuan, Xuelian Zhou, Ke Huang, Yangli Dai, Guanping Dong, Junfen Fu","doi":"10.4274/jcrpe.galenos.2024.2023-11-11","DOIUrl":"10.4274/jcrpe.galenos.2024.2023-11-11","url":null,"abstract":"<p><strong>Objective: </strong>Evaluating changes over time for the odds of developing obesity according to sex.</p><p><strong>Methods: </strong>PubMed, Embase, Cochrane Library, and China National Knowledge Database were searched for relevant studies. Full-text studies evaluating the influence of sex on obesity were analyzed. R 3.4.3 was used to assess the impact of results in the selected studies, calculated pooled prevalence and odds ratio (OR) with their respective 95% confidence intervals (CIs). A p<0.10 and I2>50% indicated high heterogeneity, and the random-effects model was used, otherwise, the fixed-effects model was used.</p><p><strong>Results: </strong>The included studies reported the prevalence of obesity in children covering 1987-2017. The pooled prevalence of obesity in boy and girl groups were 0.13 (95% CI: 0.08, 0.20) and 0.10 (95% CI: 0.07, 0.13). In the analysis of the boy group, the pooled OR in earlier time vs. recent time was 0.98 (95% CI: 0.76, 1.26). The estimated OR for girls in earlier vs. recent time was 1.01 (95% CI: 0.80, 1.28). In the analysis of studies with follow-up period ≥10 years, the pooled OR for obesity in earlier vs. recent time period was 0.99 (95% CI: 0.76, 1.30). For those with follow-up period <10 years, the pooled OR in earlier vs. recent time period was 0.94 (95% CI: 0.57, 1.54).</p><p><strong>Conclusion: </strong>Comprehensive measures are required to control obesity among children, albeit with non-significant gender difference and time trend for obesity rates in children.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"9-16"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923499/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141200797","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 Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings","authors":"Melek Yıldız, Zerrin Önal, Gözde Yeşil, Tuğçe Göksu Kabil, Güven Toksoy, Şükran Poyrazoğlu, Firdevs Baş, Özlem Durmaz, Feyza Darendeliler","doi":"10.4274/jcrpe.galenos.2023.2022-10-4","DOIUrl":"10.4274/jcrpe.galenos.2023.2022-10-4","url":null,"abstract":"<p><p>Transaldolase deficiency is a rare inborn autosomal recessive disorder caused by biallelic mutations in the <i>TALDO1</i> gene. It is characterized by intrauterine growth restriction, dysmorphism, cytopenia, hepatosplenomegaly, liver cirrhosis, endocrine problems, and skin, renal and cardiac abnormalities. We present two siblings of Turkish origin with an early-onset form of transaldolase deficiency and hypergonadotropic hypogonadism in both sexes. The girl (index) was followed-up for cryptogenic cirrhosis, leukopenia and thrombocytopenia, skin abnormalities, congenital heart defects, hypercalciuria, nephrolithiasis, proteinuria, and chronic kidney disease throughout childhood. She developed hypergonadotropic hypogonadism in adolescence. Whole exome sequencing due to the multisystemic involvement revealed a previously described homozygous, inframe deletion in <i>TALDO1</i>. Her brother was born small for gestational age and was also followed-up with cryptogenic cirrhosis from infancy, together with cytopenia, congenital heart defects, bilateral cryptorchidism, short stature, hypercalciuria, proteinuria and chronic kidney disease in childhood. He presented with testicular microlithiasis and hypergonadotropic hypogonadism in adolescence. Sanger sequencing of <i>TALDO1</i> confirmed the presence of the same homozygous deletion as his sister. The mother was found to be a heterozygous carrier for this deletion. We describe two patients with multisystemic involvement since the neonatal period who presented with additional hypergonadotropic hypogonadism in adolescence. The diagnosis of transaldolase deficiency should be kept in mind for these patients, and they must be evaluated for gonadal functions, especially during puberty.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"97-102"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923517/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10827749","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":"Hospital Admission for Diabetic Ketoacidosis in Thai Children and Adolescents with Type 1 Diabetes: A National Study During 2015-2019","authors":"Somboon Wankanit, Kaewjai Thepsuthammarat, Preamrudee Poomthavorn, Taninee Sahakitrungruang, Pat Mahachoklertwattana","doi":"10.4274/jcrpe.galenos.2024.2024-6-4","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-6-4","url":null,"abstract":"<p><strong>Objective: </strong>To study the national incidence of admission for diabetic ketoacidosis (DKA) in Thai children and adolescents with type 1 diabetes mellitus (T1D) and characterize risk factors for DKA admission.</p><p><strong>Methods: </strong>Admission records of children and adolescents with T1D during the years 2015-2019 were retrieved from the Thai health coverage system of all schemes. Hospitalization was categorized according to patients’ age groups (<1, 1-5, 6-12 and 13-17 years), sex and geographical regions (Bangkok, Central, Northeast, North and South). DKA admission incidence and rate were calculated and compared among subgroups.</p><p><strong>Results: </strong>The annual incidences of T1D and DKA admissions per 100,000 child-years progressively increased over the study period (T1D: 12.0 to 15.0, p<0.001 and DKA: 4.8 to 7.3, p<0.001). About half of DKA admissions (52%) were recurrent episodes. DKA admission rate was 1.49 admissions/patient. The incidence of DKA admission was greatest in individuals aged 13-17 years (13-17 years: 10.3; 6-12 years: 6.3; 1-5 years: 1.7; and <1 year: 0.6 per 100,000 child-years, p<0.001). DKA admission incidence was greater in females than males (7.6 vs. 4.3 per 100,000 child-years, p<0.001). Across the geographical regions, the greatest percentage of recurrent DKA (57%), rate of increased annual incidence of DKA admission (3.8 to 7.8 per 100,000 child-years), and DKA admission rate (1.64 admissions/patient) were found in the Northeast region.</p><p><strong>Conclusion: </strong>During the years 2015-2019, rising annual incidences of T1D and DKA admissions among Thai youth were observed. Individuals older than 6 years, being female, and resided in the Northeast region conveyed a higher risk for DKA hospitalization.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"26-33"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903290","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 Boy with 46,XX Karyotype (SRY Double-positive) and a Leydig Cell Tumor","authors":"Merve Güllü, Sultan Aydın, Tarkan Kalkan, Tangül Pınarcı, Doğa Türkkahraman","doi":"10.4274/jcrpe.galenos.2023.2022-9-14","DOIUrl":"10.4274/jcrpe.galenos.2023.2022-9-14","url":null,"abstract":"<p><p>Leydig cell tumors are the most common type of testicular sex cord stromal tumors. The presence of the Y chromosome is associated with tumor risk in sex development disorders (DSD), however tumor development without Y chromosome is extremely rare. A 16-year-old boy diagnosed with Leydig cell tumor due to a mass in the right testis was referred after the right orchiectomy. On physical examination, the left testis was 10 mL, and there was a labial residue in penoscrotal region. Bilateral gynecomastia was present. The karyotype was 46,XX and SRY was double-positive on fluorescent in situ hybridization analysis. Ifosfamide, carboplatin and etoposide chemotherapy was initiated due to the Leydig cell tumor. Here, we report the first pediatric case having 46,XX testicular DSD with double-positive SRY and a Leydig cell tumor.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"87-90"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923475/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9193025","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":"The Effect of Dietary Acid Load on Cardiometabolic Risk, Psychological Resilience and Sleep Quality in Adolescents with Obesity","authors":"Rukiye Bozbulut, Esra Döğer, Mahmut Orhun Çamurdan, Aysun Bideci","doi":"10.4274/jcrpe.galenos.2024.2024-3-9","DOIUrl":"10.4274/jcrpe.galenos.2024.2024-3-9","url":null,"abstract":"<p><strong>Objective: </strong>Mild metabolic acidosis may adversely affect cardiovascular risk factors, and diet-dependent acid-base load may impair mental health and sleep quality. The aim of this study was to investigate the effects of dietary acid load (DAL) on cardiometabolic risk factors, psychological resilience, and sleep quality in adolescents with obesity.</p><p><strong>Methods: </strong>Obese adolescents participated in the study. Biochemical parameters, anthropometric measurements and blood pressures were measured. Three-day retrospective food intake records were collected from the adolescents, and potential renal acid load (PRAL), net endogenous acid production (NEAP), and DAL were derived from food intake records. Psychological resilience was assessed by the Child and Youth Resilience Measure (CYRM-12) and sleep quality was assessed by the Pittsburgh Sleep Quality Index (PSQI).</p><p><strong>Results: </strong>A total of 205 adolescents with obesity (105 males, 100 females) aged 13-18 years participated. Body mass index, fat mass, fat percentage, fasting insulin, triglyceride, systolic blood pressure, homeostasis model assessment for insulin resistance (HOMA-IR) and PSQI scores were significantly higher and psychological resilience levels were significantly lower in high tertiles of DAL (p<0.05). Adolescents in the lowest tertile of DAL scores had higher consumption of whole grains, vegetables, dairy, legumes, and higher intakes of potassium and calcium than adolescents in the highest tertile of the DAL scores (p<0.05). Red meat, and white meat consumption and sodium intake were higher in adolescents in the high tertiles (p<0.05). Energy intakes were found to be significantly lower in the first tertile of PRAL and DAL scores compared to the other tertiles (p<0.05). A linear regression model ahowed an increase in NEAP, PRAL and DAL scores led to a decrease in psychological resilience score and an increase in PSQI and HOMA-IR scores (p<0.05).</p><p><strong>Conclusion: </strong>High DAL was associated with high cardiometabolic risk, insulin resistance, and low psychological resilience and poor sleep quality.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"58-67"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923501/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299189","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":"Pituitary Stalk Interruption Syndrome – clinical Presentation and Management of a Potentially Life-threatening Disease in Newborns","authors":"Ira Winkler, Elisabeth Steichen, Klaus Kapelari, Peter Wöckinger, Vera Neubauer, Ursula Kiechl-Kohlendorfer, Elke Griesmaier","doi":"10.4274/jcrpe.galenos.2023.2023-1-23","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-1-23","url":null,"abstract":"<p><p>Pituitary stalk interruption syndrome (PSIS) is a rare congenital disease resulting in hypopituitarism of variable degree. Serious courses, due to severe combined pituitary insufficiency, are even rarer and associated with very early manifestation immediately after birth. The first clinical signs are elusive and lead to delayed diagnosis and treatment, often resulting in life-threatening complications. The objective was to highlight early leading symptoms and key issues of PSIS in neonates to increase awareness, improve clinical management and thereby enable an early diagnosis and treatment to prevent further complications. This report presents and compares the clinical course and management of two male neonates with PSIS. Early leading symptoms were the same in both patients, including recurrent hypoglycaemia, hyponatraemia, jaundice, cholestasis, sucking weakness and genital abnormalities. Patient 1 developed an infection-induced adrenal crisis, persistent substitution-dependent thrombocytopenia and convulsions due to severe hypoglycaemia because of delayed PSIS diagnosis. In patient 2, with recognition of the leading symptoms, endocrine testing and a subsequent cerebral magnetic resonance imaging were performed early and he was diagnosed and treated before major complications occurred. Genetic testing was performed in both patients. A heterozygous variant in <i>GLI2</i> [NM_005270.5:c.2537del; p.(Pro846Argfs*66)] was detected in patient 1. No potential PSIS-associated variant has been found in patient 2. In conclusion, the early diagnosis of neonatal PSIS is key to prompt treatment and prevention of potential severe clinical manifestation of this orphan disease. Therefore, increased awareness of early leading symptoms among clinicians caring for neonates will lead to improved care.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":"109-114"},"PeriodicalIF":1.5,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923491/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9380033","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}