Journal of Pediatric Endocrinology and Metabolism最新文献_第2页

Do body esteem and quality of life scores change with puberty signs or precocious puberty treatment? 身体自尊和生活质量评分会随着青春期征兆或性早熟治疗而改变吗？

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2024-08-02 DOI: 10.1515/jpem-2024-0215

Serkan Bilge Koca, Gönül Büyükyılmaz, Demet Taş

{"title":"Do body esteem and quality of life scores change with puberty signs or precocious puberty treatment?","authors":"Serkan Bilge Koca, Gönül Büyükyılmaz, Demet Taş","doi":"10.1515/jpem-2024-0215","DOIUrl":"https://doi.org/10.1515/jpem-2024-0215","url":null,"abstract":"Objectives Body esteem (BE) and quality of life (QOL) of girls aged 9–11 years may change depending on their puberty. We aimed to examine The Pediatric Quality of Life Inventory 4.0 (PedsQL 4.0) and the Body Esteem for Adolescents and Adults Scale (BESAA) for children. Methods The groups were determined as those whose puberty signs had not yet started (Group 1), those having with breast development stage 3 and/or larger (Group 2), and those who had received gonadotropin-releasing hormone agonist (GnRHa) treatment for at least 6 months (Group 3). Results A total of 145 girls (Group 1: 41, Group 2: 56, Group 3: 48), were included. The PedsQL scores of the Group 1 was higher than Group 2 (78.5 ± 10.3 vs. 70.1 ± 14.2; p=0.008). The PedsQL scores of the Group 1 was higher but not statistically different from Group 3 (78.5 ± 10.3 vs. 74.2 ± 14.3; p=0.401). The PedsQL scores of Group 2 was not statistically different from Group 3 (p=0.354). There was no statistical difference in BESAA scores between groups (p=0.291). Group 1’s PedsQL Health and Activity subscale score was higher than Group 2 (p=0.002). Conclusion The QOL of the girls with PP was found to be lower than their healthy peers. Health and Activity-related QOL scores were found to be lower in the untreated group, indicating that girls with PP were probably significantly disturbed by their puberty-related physical development at the onset of the disease.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141881029","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}

引用次数: 0

Diabetic ketoacidosis in youth with diabetes mellitus during the COVID-19 pandemic COVID-19 大流行期间青年糖尿病患者的糖尿病酮症酸中毒

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2024-07-31 DOI: 10.1515/jpem-2024-0107

Anna Cymbaluk, Xiaofan Huang, Charles Minard, Daniel DeSalvo, Maria J. Redondo

{"title":"Diabetic ketoacidosis in youth with diabetes mellitus during the COVID-19 pandemic","authors":"Anna Cymbaluk, Xiaofan Huang, Charles Minard, Daniel DeSalvo, Maria J. Redondo","doi":"10.1515/jpem-2024-0107","DOIUrl":"https://doi.org/10.1515/jpem-2024-0107","url":null,"abstract":"Objectives We sought to determine if the early months of the coronavirus disease 2019 (COVID-19) pandemic influenced pediatric diabetic ketoacidosis (DKA) hospitalization characteristics. Methods This is a cross-sectional study of youth with laboratory-confirmed DKA admitted to a large tertiary children’s hospital in the USA. Data were collected from admissions in March through July 2019 and March through July 2020, respectively. We evaluated the clinical characteristics of hospitalization, including demographic data and DKA severity. We used univariable ordinal logistic regression followed by multiple ordinal logistic regression to adjust for potential confounders. Results We included 137 children with diabetes admitted for DKA in the relevant period in 2019 and 173 patients admitted for DKA in the same period in 2020. Hemoglobin A1C (HbA1c) upon admission was higher in 2020 (median=12.2 %) than in 2019 (11.5 %, p=0.018). Children who were admitted with DKA in 2020 were less likely to be autoantibody positive than those in 2019 (83 vs. 91 %, p=0.028). In the univariable model, being admitted in 2020 was significantly associated with more severe DKA (p=0.038), as was HbA1c (p=0.001). After adjusting for HbA1c upon admission, admission year was no longer significantly associated with more severe DKA. Conclusions In this study of pediatric diabetes of any type and duration of diabetes, youth admitted for DKA at the start of the COVID-19 pandemic, compared with those admitted during the year before, were more likely to have autoantibody-negative diabetes and had significantly higher HbA1c. Additionally, higher HbA1c seemed to mediate more severe DKA during the pandemic.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141863151","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}

引用次数: 0

Outcomes of growth hormone treatment in children with Prader–Willi syndrome over a 30-year period: a single tertiary center experience 普拉德-威利综合征患儿生长激素治疗 30 年来的疗效：一家三级中心的经验

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2024-07-31 DOI: 10.1515/jpem-2024-0059

Dilhara S. Gamage, Geoffrey Ambler, Albert Chan, Shubha Srinivasan, Ann M. Maguire, Yoon Hi Cho

{"title":"Outcomes of growth hormone treatment in children with Prader–Willi syndrome over a 30-year period: a single tertiary center experience","authors":"Dilhara S. Gamage, Geoffrey Ambler, Albert Chan, Shubha Srinivasan, Ann M. Maguire, Yoon Hi Cho","doi":"10.1515/jpem-2024-0059","DOIUrl":"https://doi.org/10.1515/jpem-2024-0059","url":null,"abstract":"Objectives Clinical benefits of growth hormone (GH) in Prader–Willi syndrome (PWS) are proven and scoliosis is a known association of both PWS and GH therapy. The aims of this study were to assess GH prescribing practices and growth outcomes over time, the prevalence and predictors of scoliosis in GH-treated PWS children, and the near-final height of GH-treated PWS patients. Design and Methods This is a retrospective, descriptive study evaluating data from all clinic visits of patients aged 0–18 years with PWS, seen through the Children’s Hospital at Westmead between March 1992 and May 2022 (n=75). Results A total of 64 patients were treated with GH (visits = 1,414). In the recent decade, the diagnosis of PWS and GH commencement were made significantly earlier in life. The prevalence of scoliosis was 41 %, in which age was the only significant predictor for scoliosis (odds ratio 1.19: 95 % CI [1.08–1.31; p=0.001]) adjusted for other predictors. In patients with data available at the age 16 years (23/28 treated with GH), those who were GH treated had significantly higher height SDS vs. nontreated group (SDS −0.67 vs. −2.58; p=0.0001) and lower BMI SDS (1.18 vs. 2.37; p<0.001). Conclusions Significant improvements in growth and body composition were seen in the GH-treated group vs. non-treated group of children with PWS. There were no significant modifiable clinical predictors of scoliosis in children with PWS, but our findings confirm the high prevalence of scoliosis in GH-treated children with PWS reinforcing the need for close surveillance.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141863260","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}

引用次数: 0

Thyroid abscess associated with transient hyperthyroidism in an adolescent girl: a rare case report and review of the literature 少女一过性甲状腺功能亢进伴发甲状腺脓肿：罕见病例报告与文献综述

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2024-07-25 DOI: 10.1515/jpem-2024-0205

Bablu K. Gaur, Shreyashi Jain, Aishna Tandon, Navya Jain

引用次数: 0

Automated insulin delivery in children with type 1 diabetes during physical activity: a meta-analysis 体力活动期间为 1 型糖尿病患儿自动输送胰岛素：荟萃分析

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2024-05-03 DOI: 10.1515/jpem-2024-0098

Yuan-yuan Wang, Hui-min Ying, Fang Tian, Xiao-lu Qian, Zhen-feng Zhou, Chun-cong Zhou

{"title":"Automated insulin delivery in children with type 1 diabetes during physical activity: a meta-analysis","authors":"Yuan-yuan Wang, Hui-min Ying, Fang Tian, Xiao-lu Qian, Zhen-feng Zhou, Chun-cong Zhou","doi":"10.1515/jpem-2024-0098","DOIUrl":"https://doi.org/10.1515/jpem-2024-0098","url":null,"abstract":"Objectives The aim of this study was to evaluating the performance of the automated insulin delivery (AID) in adolescents, and children with type 1 diabetes (T1D) during physical activity. Methods Relevant studies were searched electronically in the Cochrane Library, PubMed, and Embase utilizing the key words “Child”, “Insulin Infusion Systems”, and “Diabetes Mellitus” from inception to 17th March 2024 to evaluate the performance of the AID in adolescents, and children with T1D during physical activity. Results Twelve studies involving 514 patients were identified. AID did not show a beneficial effect on duration of hypoglycemia<70 mg/dL during study period (p>0.05; I 2=96 %) and during the physical activity (p>0.99). Percentage of sensor glucose values in TIR was higher in AID than the non-AID pumps during study period (p<0.001; I 2=94 %). The duration of hyperglycemic time was significantly decreased in AID group compared to the non-AID pumps group during study period (p<0.05; I 2>50 %). Conclusions AID improved TIR and decreased the duration of hyperglycemic time, but did not appear to have a significant beneficial effect on the already low post-exercise duration of hypoglycemia achievable by open loop or sensor-augmented pumps in adolescents and children with T1D during physical activity; further research is needed to confirm the beneficial effect of AID on duration of hypoglycemia.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140842204","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}

引用次数: 0

Exploring ketoacidosis frequency and risk factors in childhood-onset type 1 diabetes: an 8-year retrospective study (2011–2018) at a tertiary paediatric hospital in Tripoli, Libya 探究儿童期 1 型糖尿病酮症酸中毒的发生频率和风险因素：利比亚的黎波里一家三级儿科医院为期 8 年的回顾性研究（2011-2018 年

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2024-05-02 DOI: 10.1515/jpem-2024-0011

Mostafa Sasi Shebani, Rowida Mohammed Khashebi

{"title":"Exploring ketoacidosis frequency and risk factors in childhood-onset type 1 diabetes: an 8-year retrospective study (2011–2018) at a tertiary paediatric hospital in Tripoli, Libya","authors":"Mostafa Sasi Shebani, Rowida Mohammed Khashebi","doi":"10.1515/jpem-2024-0011","DOIUrl":"https://doi.org/10.1515/jpem-2024-0011","url":null,"abstract":"Objectives Diabetic ketoacidosis (DKA) stands as a critical, acute complication of type 1 diabetes. Despite its severity, there exists a dearth of data concerning the frequency and prevalence of DKA at the onset of type 1 diabetes in Libyan children. This study aimed to ascertain the frequency of DKA during the initial presentation of type 1 diabetes among children aged 0.5–14 years admitted to Tripoli Children’s Hospital between 2011 and 2018. Methods Employing a retrospective approach, the study examined the proportion of children with newly diagnosed type 1 diabetes who presented with DKA. Data analysis included estimating DKA frequency concerning age at presentation, sex, and age groups. The comparative analysis involved assessing DKA frequency between 0.5 and <2 and 2–14 years age groups. Logistic regression analysis evaluated the impact of age group, sex, and family history of type 1 diabetes on DKA and severe DKA occurrence. Results Among 497 children with newly diagnosed type 1 diabetes, 39.2 % presented with DKA, of these 44.5 % had severe DKA. Females exhibited a higher DKA rate than males (OR 1.63, 95 % CI 1.13–2.34, p=0.009). Very young children (0.5 to <2 years) presented with DKA more frequently than those aged 2–14 years (OR 4.73, 95 % CI 2.65–8.47, p<0.001), and they were more likely to present in severe DKA (63.9 vs. 39.1 %, [OR 7.26, 95 % CI 3.65–14.41, p<0.001]). Conclusions The frequency of DKA at type 1 diabetes onset among children admitted to Tripoli Children’s Hospital is notably high, with nearly half of the DKA episodes categorized as severe. Very young children notably demonstrated a fivefold increase in the likelihood of presenting with DKA.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140832881","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}

引用次数: 0

Association between maternal and cord blood thyroid hormones, and urine iodine concentration with fetal growth 母体和脐带血甲状腺激素以及尿碘浓度与胎儿生长的关系

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2024-04-30 DOI: 10.1515/jpem-2023-0570

Bita Alimardani, Mahin Hashemipour, Silva Hovsepian, Nafiseh Mozafarian, Mehri Khoshhali, Roya Kelishadi

{"title":"Association between maternal and cord blood thyroid hormones, and urine iodine concentration with fetal growth","authors":"Bita Alimardani, Mahin Hashemipour, Silva Hovsepian, Nafiseh Mozafarian, Mehri Khoshhali, Roya Kelishadi","doi":"10.1515/jpem-2023-0570","DOIUrl":"https://doi.org/10.1515/jpem-2023-0570","url":null,"abstract":"Objectives We planned to evaluate the association of fetal and maternal thyroid hormones and maternal iodine status with neonates’ anthropometric parameters. Methods In this cross-sectional study, levels of thyrotropin were measured in maternal serum in the first trimester of pregnancy, and thyrotropin (TSH) and free thyroxin (fT4) were measured in cord blood serum samples at birth. Urinary iodine concentration (UIC) levels in random urine samples of mothers were measured in the third trimester of pregnancy. The relationship between UIC and thyroid hormone levels of mothers with neonates’ anthropometric birth parameters of neonates was evaluated. Results One hundred eighty-eight mother–newborn pairs completed the study. Mean (SD) of cord blood TSH (CB-TSH), cord blood-free thyroxin (CB-FT4) values, and maternal TSH (M-TSH) levels were 8.8 (7.3) mIU/L, 1.01 (0.2) ng/dL, and 2.2 (0.9) mIU/L, respectively. After adjusting for confounders, there was a positive significant association between female neonate length and maternal TSH and log log-transformed CB TSH (LN_CB-TSH) (p<0.05). Median UIC (Q1–Q3) was 157 (53–241) μg/L, and there was no association between birth weight, birth length, and head circumferences of neonates and mothers’ UIC (p>0.05). Conclusions We found a positive correlation between maternal TSH in the first trimester of pregnancy and the birth length of newborns, and a negative correlation was observed between CB-TSH and birth length in girls, but it did not provide conclusive evidence for the relationship between maternal and neonatal thyroid hormone levels and birth weight. There was no association between maternal UIC levels in the third trimester and birth anthropometric parameters.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140832952","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}

引用次数: 0

Use of [18F]fluorocholine PET/CT in the detection of primary hyperparathyroidism in paediatrics: a case report 使用[18F]氟胆碱PET/CT检测儿科原发性甲状旁腺功能亢进症：病例报告

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2024-04-25 DOI: 10.1515/jpem-2023-0556

Helena Martínez Sánchez, Francisca Moreno Macián, Sara León Cariñena, Carmen de Mingo Alemany, Lidia Blasco González, Raquel Sánchez Vañó

{"title":"Use of [18F]fluorocholine PET/CT in the detection of primary hyperparathyroidism in paediatrics: a case report","authors":"Helena Martínez Sánchez, Francisca Moreno Macián, Sara León Cariñena, Carmen de Mingo Alemany, Lidia Blasco González, Raquel Sánchez Vañó","doi":"10.1515/jpem-2023-0556","DOIUrl":"https://doi.org/10.1515/jpem-2023-0556","url":null,"abstract":"Objectives The most common cause of primary hyperparathyroidism (PPH) in children is a parathyroid adenoma. Among this population, PPH exhibits higher levels of morbidity, severity and target organ involvement compared to adults. When there is suspicion of PPH, cervical ultrasound and 99mTc-sestamibi SPECT/CT are the imaging test traditionally indicated. Among adults, the use of [18F]fluorocholine PET/CT has shown a higher sensitivity than ultrasound and [99mTc]sestamibi SPECT/CT, leading to an expanding adoption in recent years. However, its role in paediatrics has not been clearly defined yet. Case presentation The patient is an adolescent female aged 13 years presented with lithiasis. The analytical study revealed elevated PTH, hipovitaminosis D, hypercalcaemia and hypophosphataemia. Due to the suspicion of PPH, cervical ultrasound and 99mTc-sestamibi SPECT/C were performed, failing to identify hyperfunctioning parathyroid glands. We proceeded to carry out a [18F]fluorocholine PET/CT where a hypermetabolic nodular image was identified, compatible with a hyperfunctioning parathyroid adenoma. The patient underwent surgery, resulting in the normalisation of PTH levels. Pathological anatomy confirmed the presence of a parathyroid adenoma. Conclusions In cases where conventional imaging tests yield negative results or discrepancies, we suggest the possibility of the use of [18F]fluorocholine PET/CT for the detection of hyperfunctioning parathyroid adenomas.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140798990","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}

引用次数: 0

A novel useful marker in the early discrimination of transient hyperthyrotropinemia/hypothyroxinemia and congenital hypothyroidism in preterm infants: thyroid-stimulating hormone/free thyroxine ratio 用于早期鉴别早产儿一过性甲状腺功能亢进症/甲状腺功能减退症和先天性甲状腺功能减退症的新型有用标记物：促甲状腺激素/游离甲状腺素比值

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2024-04-25 DOI: 10.1515/jpem-2024-0118

Ufuk Cakir, Cuneyt Tayman

{"title":"A novel useful marker in the early discrimination of transient hyperthyrotropinemia/hypothyroxinemia and congenital hypothyroidism in preterm infants: thyroid-stimulating hormone/free thyroxine ratio","authors":"Ufuk Cakir, Cuneyt Tayman","doi":"10.1515/jpem-2024-0118","DOIUrl":"https://doi.org/10.1515/jpem-2024-0118","url":null,"abstract":"Objectives Transient hyperthyrotropinemia/transient hypothyroxinaemia and congenital hypothyroidism (CH) have completely different treatment and clinical outcomes. However, a powerful, highly sensitive and cost-effective marker for the differentiation of these clinical entities in the early postnatal period is not available. Therefore, we aimed to test the potential, early predictive, diagnostic power of the thyroid-stimulating hormone (TSH)/free thyroxine (fT4) ratio for differentiation of the two clinical entities in the early period of life. Methods TSH and fT4 levels were recorded on the postnatal day 7 of premature infants<32 weeks of gestational age. TSH/fT4 ratio was calculated. The significance degree of TSH/fT4 ratio was analyzed for the differentiation of transient hyperthyrotropinemia or transient hypothyroxinaemia and CH. Results The study included 1,204 preterm infants<32 weeks of gestational age. Of the 1,204 infants, 978 (81.2 %) had normal thyroid function. Eighty-eight infants (7.3 %) were diagnosed with CH and 138 (11.5 %) with transient hyperthyrotropinemia or transient hypothyroxinemia. Initial TSH/fT4 ratio>4.8 was found to be an early diagnostic warning sign with high power in favor of transient hyperthyrotropinemia or transient hypothyroxinemia (AUC value: 0.947) and TSH/fT4 ratio>12.5 (AUC value: 0.999) was found to be an early diagnostic warning sign with high power in favor of CH (p=0.0001). Conclusions We found for the first time that the TSH/fT4 ratio can be used for the early differentiation of transient hyperthyrotropinemia/transient hypothyroxinaemia and CH in preterm infants without additional cost and with high power.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140798988","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}

引用次数: 0

Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development 在一名 46,XY 性别发育障碍患者体内发现新型同卵 NR5A1 变异体

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2024-04-23 DOI: 10.1515/jpem-2023-0551

Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özge Köprülü, Beyhan Özkaya, Gülçin Arslan, Özlem Nalbantoğlu, Filiz Hazan, Behzat Özkan

{"title":"Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development","authors":"Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özge Köprülü, Beyhan Özkaya, Gülçin Arslan, Özlem Nalbantoğlu, Filiz Hazan, Behzat Özkan","doi":"10.1515/jpem-2023-0551","DOIUrl":"https://doi.org/10.1515/jpem-2023-0551","url":null,"abstract":"Objectives Nuclear receptor subfamily 5 group A member 1 (NR5A1) is a transcription factor critical for the development of various organs. Pathogenic variants in NR5A1 are associated with a spectrum of disorders of sex development (DSD). Case report A 15-month-old baby, raised as a girl, was referred for genital swelling and ambiguous genitalia. Born to healthy consanguineous parents, the baby had a phallus, perineal hypospadias, labial fusion, and a hypoplastic scrotum. Hormonal evaluation showed normal levels, and ultrasonography revealed small gonads and absence of Müllerian derivatives. Post-human chorionic gonadotropin (hCG) testing indicated an adequate testosterone response. The karyotype was 46,XY, and in it was found a homozygous NR5A1 variant (c.307 C>T, p.Arg103Trp) in a custom 46 XY DSD gene panel. Notably, the patient exhibited complete sex reversal, hyposplenia, and no adrenal insufficiency. Conclusions Previously, NR5A1 pathogenic variants were considered to be dominantly inherited, and homozygous cases were thought to be associated with adrenal insufficiency. Despite the homozygous pathogenic variant, our patient showed hyposplenism with normal adrenal function; this highlights the complexity of NR5A1 genotype–phenotype correlations. These patients should be monitored for adrenal insufficiency and DSD as well as splenic function.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140798989","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}

引用次数: 0