Annals of Pediatric Endocrinology & Metabolism最新文献

{"title":"Central precocious puberty: is routine brain MRI screening necessary for girls?: Commentary on \"Brain magnetic resonance imaging (MRI) findings in central precocious puberty patients: is routine MRI necessary for newly diagnosed patients?\"","authors":"Hae Sang Lee","doi":"10.6065/apem.2322096edi07","DOIUrl":"10.6065/apem.2322096edi07","url":null,"abstract":"©2023 Annals of Pediatric Endocrinology & Metabolism This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ISSN: 2287-1012(Print) ISSN: 2287-1292(Online) Central precocious puberty (CPP) is defined by the early activation of hypothalamicpituitary-gonadal axis before the age of 8 years in girls and 9 years in boys. With a ratio of 1:5 to 1:10, precocious puberty is more common in girls than in boys. The onset of puberty is a multifaceted phenomenon influenced by a combination of genetic and environmental factors, including factors such as obesity and endocrine disruptors. In addition, the onset of typical puberty shows individual variability and is determined by a variety of genetic factors, including both rare and common variations. Approximately 90% to 95% of girls have idiopathic form of CPP, but approximately 40% to 75% of boys with CPP have pathological brain lesions, including hypothalamic hamartoma, pituitary adenoma, and germinoma. Therefore, magnetic resonance imaging (MRI) of the brain can be performed to evaluate children with CPP and rule out the possibility of pathological brain lesions. In global consensus statement on CPP, all boys with CPP and girls younger than 6 years of age with CPP should undergo a brain MRI as a part of etiological investigation. However, there is controversy as to whether brain MRI should be performed on girls with precocious puberty between the ages of 6 and 8. The numerous studies have investigated the prevalence and types of intracranial lesions in CPP cases, as well as the benefit of brain MRI in girls with age at puberty onset older than 6 years without neurological abnormality. Yoon et al. reported that when brain MRI was performed on girls diagnosed with precocious puberty at an average age of 6.8 years, 91.8% showed normal findings. Also, any pathological lesions among girls with CPP were not detected. In recent systematic review, the prevalence of brain lesions in patients with CPP was 12% in girls younger than 7 years old and only 3% in girls between 7–8 years old. In a recent study by Oh et al., a pathological brain lesion which was diagnosed as hypothalamic hamartoma was only detected in one girl (6.1 years of age) out 199 girls with CPP. The detection rate of brain lesions not only in girls but also in boys is not higher in recent studies compared to previous literature. Out of 138 boys with CPP who underwent brain MRI, brain lesions including pituitary hyperplasia, thickening of the pituitary stalk, and Rathke cleft cyst were found in 10 boys (7%). Oh et al. reported that 4 of 24 boys (16.6%) with CPP had pituitary abnormalities, but no pathological brain lesions were not observed. Recent westernized eating habits and the increase in obesity are th","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9c/4e/apem-2322096edi07.PMC10556437.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41153033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"New-onset type 1 diabetes mellitus in the Paediatric Emergency Department: impact of the COVID-19 pandemic.","authors":"Raquel García Romero, Laia Baleta Riera, Nuria Sanz Marcos, Vanessa Arias Constanti, Victoria Trenchs Sainz de la Maza, Carles Luaces","doi":"10.6065/apem.2346088.044","DOIUrl":"10.6065/apem.2346088.044","url":null,"abstract":"<p><strong>Purpose: </strong>On the 14th of March 2020, the Spanish government decreed a state of alarm due to the coronavirus disease 2019 (COVID-19) pandemic, directly affecting healthcare. This situation led to delayed diagnosis of several serious diseases, and its impact on many diseases such as the onset of type 1 diabetes mellitus (T1DM) remains unknown. The aim of this study is to determine the impact of the COVID-19 pandemic on the onset of T1DM in children.</p><p><strong>Methods: </strong>A descriptive-observational study was performed using data from children younger than 18 years (n=115) admitted with diagnosis of T1DM. We compared the 8 months from May-December 2020 to the same timeframe in 2019.</p><p><strong>Results: </strong>Our data show an increase of newly attended cases of T1DM in 2020, due to referral of Catalan children with onset of diabetes to our centre. Moreover, fewer patients presented with simple hyperglycaemia at the onset of the COVID-19 period. Delay in consulting the hospital, decreased access to the healthcare system, and avoidance of hospitals to minimize exposure to COVID-19 could have contributed to this finding. There were no differences in the number of days of hospitalization (including days in the paediatric intensive care uniy) between the years.</p><p><strong>Conclusion: </strong>The effects of the lockdown during the COVID-19 pandemic not only delayed the diagnosis of diabetes, but also its allowed time for its severity to increase. Future studies should focus on the influence of new variants of COVID-19 on the onset of T1DM during the postvaccination period.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a9/45/apem-2346088-044.PMC10556438.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41169097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between short stature at 3 years old and height, weight, and body mass index changes for 6 years after birth: a retrospective, nationwide, population-based study of children born 2011-2014 in Korea.","authors":"Seo Jung Kim,&nbsp;Ju Hyun Jin,&nbsp;In Hyuk Chung","doi":"10.6065/apem.2244190.095","DOIUrl":"10.6065/apem.2244190.095","url":null,"abstract":"<p><strong>Purpose: </strong>Height at 3 years of age, when catch-up growth based on birth history is completed, is considered a major prognostic factor for predicting short stature, underweight, and growth faltering. However, too few large-scale studies have followed and analyzed height, weight, and body mass index (BMI) changes in children whose stature was short at 3 years of age. This study followed and compared the growth parameters (height, weight, and BMI) of children with short stature at 3 years of age and children with nonshort stature at 3 years of age for 6 years after birth using nationwide, population-based data.</p><p><strong>Methods: </strong>We retrospectively analyzed physical measurement data from the National Health Screening Program for Infants and Children for people born in 2011-2014 in Korea and followed to 2020. The data were provided by the National Health Insurance Service's customized data service. Growth parameters were compared using chi-square tests, Student t-tests, analyses of variance, and linear regressions.</p><p><strong>Results: </strong>Among 210,902 enrolled participants, 759 (0.4%) and 210,143 (99.6%) were in the short stature at 3 years group and the nonshort stature at 3 years group, respectively. In both sexes, height, weight, and BMI for 6 years after birth were significantly higher in the nonshort stature at 3 years group than in the short stature at 3 years group (P<0.0001). The BMI rebound was observed later than the standard period in the short stature at 3 years group.</p><p><strong>Conclusion: </strong>Early intervention and close follow-up are necessary to prevent persistent short stature and growth faltering in children with short stature at 3 years of age.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fc/34/apem-2244190-095.PMC10556449.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9238297","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.","authors":"Nae-Yun Lee,&nbsp;Ja Hye Kim,&nbsp;Ji-Hee Yoon,&nbsp;Soojin Hwang,&nbsp;Gu-Hwan Kim,&nbsp;Han-Wook Yoo,&nbsp;Jin-Ho Choi","doi":"10.6065/apem.2244152.076","DOIUrl":"10.6065/apem.2244152.076","url":null,"abstract":"<p><strong>Purpose: </strong>Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgens because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.</p><p><strong>Methods: </strong>This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endocrinological findings were retrospectively collected, including presenting features, external genitalia, sex of rearing, timing of gonadectomy, pubertal outcomes, and sex hormone levels. Molecular analysis of AR was performed using Sanger, targeted gene panel, or whole-exome sequencing.</p><p><strong>Results: </strong>Among all 19 patients, 14 (74%) were classified as having complete AIS (CAIS), whereas 5 (26%) had partial AIS (PAIS). All patients with CAIS, and 3 patients with PAIS were reared as female. One patient with CAIS manifested a mixed germ cell tumor at the age of 30 years. Molecular analysis of AR identified 19 sequence variants; 12 (63%) were previously reported, and the remaining 7 (37%) were novel. Missense mutations were the most common type (12 of 19, 63%), followed by small deletions, nonsense mutations, an insertion, and a splice site mutation.</p><p><strong>Conclusion: </strong>Here, we describe the clinical outcomes and molecular characteristics of 19 Korean patients with AIS. Patients with PAIS manifested various degrees of masculinization of the external genitalia. Nonsense and frameshift mutations were frequent in patients with CAIS, whereas patients with PAIS harbored exclusively missense mutations.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/33/c9/apem-2244152-076.PMC10556439.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9195129","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A novel variant of THRβ and its 4-year clinical course in a Korean boy with resistance to thyroid hormone.","authors":"Sejin Kim,&nbsp;Soyun Park,&nbsp;Jungeun Moon,&nbsp;Heungsik Kim,&nbsp;Seokjin Kang","doi":"10.6065/apem.2142246.123","DOIUrl":"10.6065/apem.2142246.123","url":null,"abstract":"<p><p>Thyroid hormone resistance (RTH) is characterized by a decreased sensitivity of target tissues to thyroid hormones due to a defect in the THRα- and THRβ-encoded thyroid hormone receptors (THRs). The clinical manifestations range from no symptoms to simple goiter and hypo- or hyperthyroidism, depending on the receptor subtype distribution in the tissues. Here, we report the case of a thyroid hormone-resistant 12-month-old boy carrying a novel THRβ variant who was initially diagnosed with congenital hypothyroidism. An extensive evaluation revealed increased free T4 level and inappropriately increased thyroid-stimulating hormone (TSH) level; a normal lipid profile, sex hormone-binding globulin, and free alpha subunit of TSH; exaggerated TSH response to THR; and no radiological evidence of pituitary adenoma. A targeted next-generation sequencing panel identified a heterozygote c.993T>G (p.Asn331Lys) mutation in the THRβ gene. During the first year of life, a higher dose of levothyroxine was administered to the patient due to uncompensated RTH. Levothyroxine treatment was continued after 3 years to maintain TSH level <5 mIU/mL, but the observed weight gain was poor, height increase was insufficient, and bone development was delayed. However, neither hyperactivity nor developmental delay was observed. Patients with RTH exhibit various clinical features. Due to its heterogeneous nature, genetic test for accurate diagnosis is important to provide proper management.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5b/d9/apem-2142246-123.PMC10556442.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41177245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypoparathyroidism in children and adolescents.","authors":"Hüseyin Anıl Korkmaz,&nbsp;Behzat Ozkan","doi":"10.6065/apem.2346096.048","DOIUrl":"10.6065/apem.2346096.048","url":null,"abstract":"<p><p>Hypoparathyroidism is characterized by insufficient parathyroid hormone (PTH) release from the parathyroid glands to maintain serum calcium level within normal limits and unresponsiveness of target tissues despite normal serum PTH level. Hypoparathyroidism is defined as low or inappropriately normal serum PTH level. In this narrative review, we discuss the etiology of hypoparathyroidism in children.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cf/d3/apem-2346096-048.PMC10556444.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41132946","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"2022 Clinical practice guidelines for central precocious puberty of Korean children and adolescents.","authors":"Su Jin Kim,&nbsp;Ji Hyun Kim,&nbsp;Yong Hee Hong,&nbsp;In Hyuk Chung,&nbsp;Eun Byoul Lee,&nbsp;Eungu Kang,&nbsp;Jinsup Kim,&nbsp;Aram Yang,&nbsp;Young-Jun Rhie,&nbsp;Eun-Gyong Yoo,&nbsp;Young-Lim Shin,&nbsp;Jin Ho Choi,&nbsp;Soo Young Kim,&nbsp;Jieun Lee","doi":"10.6065/apem.2346168.084","DOIUrl":"10.6065/apem.2346168.084","url":null,"abstract":"<p><p>The Committee of Central Precocious Puberty of Korean Pediatrics and Adolescents of the Korean Society of Pediatric Endocrinology has newly developed evidence-based 2022 clinical practice guidelines for central precocious puberty in Korean children and adolescents. These guidelines provide the grade of recommendations, which includes both the strength of recommendations and the level of evidence. In the absence of sufficient evidence, recommendations are based on expert opinion. These guidelines have been revised and supplement the previous guidelines \"Clinical Guidelines for Precocious Puberty 2011,\" and are drawn from a comprehensive review of the latest domestic and international research and the grade of recommendation appropriate to the domestic situation. This review summarizes the newly revised guidelines into 8 key questions and 27 recommendations and consists of 4 sections: screening, diagnosis, treatment, and long-term outcome of central precocious puberty.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/df/5e/apem-2346168-084.PMC10556443.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41166705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of hypothalamic involvement and growth hormone treatment on cardiovascular risk factors during the transition period in patients with childhood-onset craniopharyngioma.","authors":"Sang Hee Park,&nbsp;Yun Jeong Lee,&nbsp;Jung-Eun Cheon,&nbsp;Choong Ho Shin,&nbsp;Haewoon Jung,&nbsp;Young Ah Lee","doi":"10.6065/apem.2244046.023","DOIUrl":"https://doi.org/10.6065/apem.2244046.023","url":null,"abstract":"<p><strong>Purpose: </strong>Hypothalamic damage may increase the risk of adulthood obesity and cardiovascular disease in patients with craniopharyngioma. We evaluated the effects of hypothalamic involvement (HI) and growth hormone (GH) discontinuation on cardiovascular risk factors during the transition period in patients with childhood-onset craniopharyngioma.</p><p><strong>Methods: </strong>Thirty-three patients (17 males, 16 females) underwent retesting for adult GH deficiency (GHD) between 2005 and 2020 at Seoul National University Children's Hospital. Postoperative HI was graded by Puget's criteria and data regarding GH replacement were collected. At retesting, body mass index (BMI), fasting blood glucose, insulin, high-density lipoprotein cholesterol (HDL-C), triglycerides, and blood pressure were assessed.</p><p><strong>Results: </strong>The mean age of commencement and discontinuation of GH replacement for childhood GHD was 10.0±3.6 and 15.3±3.1 years, respectively. The mean age at retesting for adult GHD was 17.7±2.5 years. When patients were categorized by post-GH discontinuation duration, those with durations >6 months (n=27) showed lower HDL-C levels than those with <6 months (P=0.037). Patients with extensive HI (n=16) had higher BMI z-scores than did those with no HI or mild HI (P=0.020). Both the extent of HI and longer post-GH discontinuation duration were significantly predictive for decreased HDL-C levels (P<0.05, for both).</p><p><strong>Conclusion: </strong>The extent of HI and GH discontinuation duration during the transition period can increase cardiovascular risks in patients with childhood-onset craniopharyngioma.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0f/f8/apem-2244046-023.PMC10329945.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9771367","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.","authors":"Ja Hye Kim,&nbsp;Gu-Hwan Kim,&nbsp;Han-Wook Yoo,&nbsp;Jin-Ho Choi","doi":"10.6065/apem.2346108.054","DOIUrl":"https://doi.org/10.6065/apem.2346108.054","url":null,"abstract":"<p><p>Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid. Most cases (~95%) are caused by mutations in the CYP21A2 gene, which encodes steroid 21-hydroxylase. CAH patients manifest a wide phenotypic spectrum according to their degree of residual enzyme activity. CYP21A2 and its pseudogene (CYP21A1P) are located 30 kb apart in the 6q21.3 region and share approximately 98% of their sequences in the coding region. Both genes are aligned in tandem with the C4, SKT19, and TNX genes, forming 2 segments of the RCCX modules that are arranged as STK19-C4A-CYP21A1P-TNXA-STK19B-C4B-CYP21A2-TNXB. The high sequence homology between the active gene and pseudogene leads to frequent microconversions and large rearrangements through intergenic recombination. The TNXB gene encodes an extracellular matrix glycoprotein, tenascin-X (TNX), and defects in TNXB cause Ehlers-Danlos syndrome. Deletions affecting both CYP21A2 and TNXB result in a contiguous gene deletion syndrome known as CAH-X syndrome. Because of the high homology between CYP21A2 and CYP21A1P, genetic testing for CAH should include an evaluation of copy number variations, as well as Sanger sequencing. Although it poses challenges for genetic testing, a large number of mutations and their associated phenotypes have been identified, which has helped to establish genotype-phenotype correlations. The genotype is helpful for guiding early treatment, predicting the clinical phenotype and prognosis, and providing genetic counseling. In particular, it can help ensure proper management of the potential complications of CAH-X syndrome, such as musculoskeletal and cardiac defects. This review focuses on the molecular pathophysiology and genetic diagnosis of 21-hydroxylase deficiency and highlights genetic testing strategies for CAH-X syndrome.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f4/b9/apem-2346108-054.PMC10329939.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9767021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A case of maturity-onset diabetes of the young type 4 in Korea.","authors":"Geu-Meum Park,&nbsp;Soo Jung Lee,&nbsp;Ja Young Seo,&nbsp;Kyung In Lim","doi":"10.6065/apem.2142188.094","DOIUrl":"https://doi.org/10.6065/apem.2142188.094","url":null,"abstract":"Maturity-onset diabetes of the young (MODY) is a rare, autosomal dominant disease characterized by non-ketogenic diabetes mellitus (DM). MODY type 4, caused by PDX1 mutation, is a very rare subtype of MODY, especially in Korea. We report a case of a 10-year-old, nonobese girl with a family history of type 2 DM. After diagnosis, the patient’s serum glucose level was well controlled using metformin monotherapy; however, the glycated hemoglobin level increased to 9.0% approximately 2 years after treatment. No obesity or lifestyle problems were observed, and serum fasting C-peptide level was within the normal range. Furthermore, no islet-related autoantibodies were detected. A genetic screening for MODY using a next-generation sequencing panel was performed, and a likely heterozygous pathogenic PDX1 mutation (p.Gly246ArgfsTer21) was identified. The PDX1 variant was not detected in her mother, implying that the mutation had arisen de novo in the proband. She was prescribed insulin degludec in addition to metformin therapy, which improved her hyperglycemia. This report presents a novel MODY type 4 phenotype and highlights the importance of genetic screening in patients with MODY characteristics.","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e6/35/apem-2142188-094.PMC10329942.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9759290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}