Journal of Clinical Research in Pediatric Endocrinology最新文献_第10页

Atypical Presentation and Course of ACTH-independent Cushing's Syndrome in Two Families. 两个家族中 ACTH 依赖性库欣综合征的非典型表现和病程。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-12-12 DOI: 10.4274/jcrpe.galenos.2023.2023-9-15

Kübra Yüksek Acinikli, Sezer Acar, Ahu Paketçi, Özgür Kırbıyık, Mert Erbaş, Özge Besci, Gözde Akın Kağızmanlı, Deniz Kızmazoğlu, Oktay Ulusoy, Erdener Özer, Kutsal Yörükoğlu, Ayhan Abacı, Handan Güleryüz, Ece Böber, Korcan Demir

{"title":"Atypical Presentation and Course of ACTH-independent Cushing's Syndrome in Two Families.","authors":"Kübra Yüksek Acinikli, Sezer Acar, Ahu Paketçi, Özgür Kırbıyık, Mert Erbaş, Özge Besci, Gözde Akın Kağızmanlı, Deniz Kızmazoğlu, Oktay Ulusoy, Erdener Özer, Kutsal Yörükoğlu, Ayhan Abacı, Handan Güleryüz, Ece Böber, Korcan Demir","doi":"10.4274/jcrpe.galenos.2023.2023-9-15","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2023.2023-9-15","url":null,"abstract":"Primary pigmented nodular adrenocortical disease (PPNAD) is a rare genetic disease mainly associated with Carney complex (CNC), which is caused by germline mutations of the regulatory subunit type 1A (RIα) of the cAMP-dependent protein kinase (PRKAR1A) gene. We report three cases suffering from CNC with unique features in diagnosis and follow-up. All cases had obesity and a cushingoid appearance and exhibited laboratory characteristics of hypercortisolism. However biochemical and radiological examinations initially suggested Cushing's disease in one case . All of the cases were treated surgically; two of them underwent bilateral adrenalectomy at once, one of them had unilateral adrenalectomy at first but required contralateral adrenalectomy after nine months. Contrary to what is usually known regarding PPNAD, the adrenal glands of two cases (case 2 and 3) had a macronodular morphology. Genetic analyses revealed pathogenic variants in PRKAR1A (case 1: c.440+5 G>A, not reported in the literature; cases 2 and 3: c.349G>T, p.V117F). One case developed Hodgkin lymphoma five year after adrenalectomy, this association was not previously reported with CNC. The findings of these families provide important information for a better understanding of the genetic pathogenesis, diagnosis, and clinical management of CNC. Hodgkin lymphoma may be a component of CNC.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138803754","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}

引用次数: 0

Worsening of Congenital Hypothyroidism After Start of Carob-bean Gum Thickened Formula: Is There a Link? A Case Report. 开始食用角豆胶增稠配方奶粉后先天性甲状腺功能减退症恶化：是否有关联？病例报告。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-12-06 DOI: 10.4274/jcrpe.galenos.2023.2023-9-12

Claudia Signorino, Giovanna Municchi, Marta Ferrari, Stefano Stagi

{"title":"Worsening of Congenital Hypothyroidism After Start of Carob-bean Gum Thickened Formula: Is There a Link? A Case Report.","authors":"Claudia Signorino, Giovanna Municchi, Marta Ferrari, Stefano Stagi","doi":"10.4274/jcrpe.galenos.2023.2023-9-12","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2023.2023-9-12","url":null,"abstract":"Congenital hypothyroidism (CH), if not correctly treated with L-thyroxine (L-T4), may be responsible for a permanent intellectual disability. If patients treated with L-T4 do not achieve a good TSH control, the possibility of poor compliance and/or poor absorption of L- T4 should be investigated. We describe an infant with CH whose thyroid hormone levels worsened after she started a carob-bean gum thickened formula. A baby girl was diagnosed with CH by newborn screening (at confirmatory blood evaluation TSH was 496.0 µIU/mL and FT4 0.13 ng/dl). Five weeks after beginning L-T4 treatment TSH normalized (TSH 2.72 µIU/mL , FT4 2.08 ng/dl); nevertheless, only another 5 weeks later we noticed a new worsening of thyroid hormone levels (TSH 31.1 µIU/mL , FT4 1.27 ng/dl), which worsened further (TSH 44.8 µIU/mL, FT4 1.16 ng/dl) even if L-T4 dosage was increased. Anamnesis disclosed that she had been given a carob-bean gum thickened formula to combat gastroesophageal reflux disease (GERD) rather than regular type 1 formula milk. The anti-reflux milk formula was discontinued and after 14 days the patient's TSH level dropped to 0.38 µIU/mL and FT4 increased to 2.68 ng/dL, allowing the L-T4 dosage to be reduced. Carob-bean gum thickened formula may influence the absorption of L-T4. If such formulas are used, we recommend a more frequent evaluation of thyroid function. In CH infants, inexplicably high TSH levels could be caused by gastrointestinal disorders or the interference of drugs or other substances, including some types of milk formula, which impair L-T4 absorption.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138488817","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}

引用次数: 0

Effects of Blue Light on Puberty and Ovary in Female Rats 蓝光对雌性大鼠青春期和卵巢的影响

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-11-22 Epub Date: 2023-05-22 DOI: 10.4274/jcrpe.galenos.2023.2022-12-1

Aylin Kılınç Uğurlu, Aysun Bideci, Mürşide Ayşe Demirel, Gülnur Take Kaplanoğlu, Duygu Dayanır, Özlem Gülbahar, Tuba Saadet Deveci Bulut, Esra Döğer, Mahmut Orhun Çamurdan

{"title":"Effects of Blue Light on Puberty and Ovary in Female Rats","authors":"Aylin Kılınç Uğurlu, Aysun Bideci, Mürşide Ayşe Demirel, Gülnur Take Kaplanoğlu, Duygu Dayanır, Özlem Gülbahar, Tuba Saadet Deveci Bulut, Esra Döğer, Mahmut Orhun Çamurdan","doi":"10.4274/jcrpe.galenos.2023.2022-12-1","DOIUrl":"10.4274/jcrpe.galenos.2023.2022-12-1","url":null,"abstract":"Objective: This study was designed to examine the effect of blue light exposure and exposure time on puberty in an animal model.Methods: Eighteen 21-day-old female Sprague Dawley rats were divided into three equal groups which were: control group (CG); blue light-6 hours (BL-6); and blue light-12 hours (BL-12). CG rats were maintained with 12/12-hour light-dark cycles. The animals in BL-6 and BL-12 were exposed to blue light of wavelength 450-470 nm and intensity of 0.03 uW/cm2 for 6 and 12 hours, respectively. Exposure to blue light continued until the first signs of puberty. Serum follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol, testosterone, dehydroepiandrosterone sulfate (DHEA-S), leptin and melatonin were measured. Subsequently the ovaries and uterus were examined histomorphologically.Results: The median day of puberty start was 38, 32 and 30 for the CG, BL-6, and BL-12 groups, respectively (p=0.001). FSH, testosterone, DHEA-S, and leptin concentrations of all groups were similar. However, LH and estradiol concentrations in BL-6 were higher compared to CG (p=0.02). There was a negative correlation between blue light exposure, exposure time, and melatonin concentrations (r=-0.537, p=0.048). Ovarian tissue was compatible with puberty in all groups. As blue light exposure time increased, capillary dilatation and edema in the ovarian tissue increased. Prolonged exposure was associated with polycystic ovary-like (PCO) morphological changes and apoptosis in granulosa cells.Conclusion: These results suggest that exposure to blue light and the duration of exposure induced earlier puberty in female rats. As the duration of blue light exposure increased, PCO-like inflammation, and apoptosis were detected in the ovaries.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9499028","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}

引用次数: 1

PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency 分离性生长激素缺乏症和多发性垂体激素缺乏症患者的PROKR2突变

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-11-22 Epub Date: 2023-06-20 DOI: 10.4274/jcrpe.galenos.2023.2023-4-4

Aslı Derya Kardelen, Adam Najafli, Firdevs Baş, Birsen Karaman, Güven Toksoy, Şükran Poyrazoğlu, Şahin Avcı, Umut Altunoğlu, Zehra Yavaş Abalı, Ayşe Pınar Öztürk, Esin Karakılıç Özturan, Seher Başaran, Feyza Darendeliler, Z Oya Uyguner

{"title":"PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency","authors":"Aslı Derya Kardelen, Adam Najafli, Firdevs Baş, Birsen Karaman, Güven Toksoy, Şükran Poyrazoğlu, Şahin Avcı, Umut Altunoğlu, Zehra Yavaş Abalı, Ayşe Pınar Öztürk, Esin Karakılıç Özturan, Seher Başaran, Feyza Darendeliler, Z Oya Uyguner","doi":"10.4274/jcrpe.galenos.2023.2023-4-4","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-4-4","url":null,"abstract":"Objective: Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of pituitary hormone deficiencies, suggesting a potential role for the PROK2 pathway in pituitary development, in addition to its role in gonadotropin releasing hormone-expressing neuron development. Here, we present the clinical and molecular findings of four patients with PROKR2 mutations.Methods: Next-generation targeted sequencing was used to screen 25 genes in 59 unrelated patients with multiple pituitary hormone deficiency (MPHD), isolated growth hormone (GH) deficiency, or idiopathic short stature.Results: Two different, very rare PROKR2 missense alterations classified as pathogenic (NM_144773.4:c.518T>G; NP_658986.1:p. (Leu173Arg)) and likely pathogenic (NM_144773.4:c.254G>A; NP_658986.1:p.(Arg85His)) were identified in four patients in heterozygous form. Patient 1 and Patient 2 presented with short stature and were diagnosed as GH deficiency. Patient 3 and Patient 4 presented with central hypothyroidism and cryptorchidism and were diagnosed as MPHD. No other pathogenic alterations were detected in the remaining 24 genes related to short stature, MPHD, and hypogonadotropic hypogonadism. Segregation analysis revealed asymptomatic or mildly affected carriers in the families.Conclusion: PROKR2 dominance should be kept in mind as a very rare cause of GH deficiency and MPHD. Expressional variation or lack of penetrance may imply oligogenic inheritance or other environmental modifiers in individuals who are heterozygous carriers.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10557844","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}

引用次数: 0

Unfavorable Effects of Low-carbonhydrate Diet in a Pediatric Patient with Type 1 Diabetes Mellitus 低碳水化合物饮食对1型糖尿病儿童患者的不利影响

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-11-22 Epub Date: 2022-01-11 DOI: 10.4274/jcrpe.galenos.2021.2021-10-18

Ceren Güleryüz, Ece Eker, Gülin Karacan Küçükali, Merve Şakar, Fatma Nur Genç, Nursel Muratoğlu Şahin, Selin Elmaoğulları, Semra Çetinkaya, Şenay Savaş Erdeve

引用次数: 2

Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation 新生儿糖尿病、先天性甲状腺功能减退症和先天性青光眼并存：一例GLIS3突变。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-11-22 Epub Date: 2022-04-12 DOI: 10.4274/jcrpe.galenos.2022.2021-12-19

Emre Sarıkaya, Mustafa Kendirci, Mikail Demir, Munis Dündar

{"title":"Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation","authors":"Emre Sarıkaya, Mustafa Kendirci, Mikail Demir, Munis Dündar","doi":"10.4274/jcrpe.galenos.2022.2021-12-19","DOIUrl":"10.4274/jcrpe.galenos.2022.2021-12-19","url":null,"abstract":"Neonatal diabetes and congenital hypothyroidism (CH) syndrome is a rare condition caused by homozygous or compound heterozygous mutations in the GLIS3 gene. Small for gestational age, congenital glaucoma, polycystic kidney disease, cholestatic hepatic fibrosis, pancreatic exocrine insufficiency, developmental delay, dysmorphic facial features, sensorineural deafness, osteopenia, and skeletal anomalies are other accompanying phenotypic features in the 22 cases described so far. We present a male patient with neonatal diabetes, CH, congenital glaucoma, developmental delay, and facial dysmorphism. During the patient’s 17-year follow-up, no signs of exocrine pancreatic insufficiency, liver and kidney diseases, deafness, osteopenia, and bone fracture were observed. A homozygous exon 10-11 deletion was detected in the GLIS3 gene. We report one of the oldest surviving GLIS3 mutation case with main findings of neonatal diabetes and CH syndrome to contribute to the characterization of the genotypic and phenotypic spectra of the syndrome.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683540/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48438823","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}

引用次数: 2

Hemolytic Anemia due to Glucose 6 Phosphate Dehydrogenase Deficiency Triggered by Type 1 Diabetes Mellitus 1型糖尿病引起的葡萄糖6磷酸脱氢酶缺乏导致的溶血性贫血

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-11-22 Epub Date: 2022-03-21 DOI: 10.4274/jcrpe.galenos.2022.2021-11-10

Burçe Orman, Semra Çetinkaya, Nergiz Öner, Meltem Akçaboy, Ali Fettah, Naz Güleray Lafcı, Şenay Savaş Erdeve

引用次数: 1

The Incidence Trend of Type 1 Diabetes among Children and Adolescents 0-14 Years of Age in the West, South, and Tripoli Regions of Libya (2009-2018) 2009-2018年利比亚西部、南部和的黎波里地区0-14岁儿童和青少年1型糖尿病发病率趋势

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-11-22 Epub Date: 2023-05-23 DOI: 10.4274/jcrpe.galenos.2023.2023-1-17

Rowida M Khashebi, Christopher C Patterson, Mostafa S Shebani

{"title":"The Incidence Trend of Type 1 Diabetes among Children and Adolescents 0-14 Years of Age in the West, South, and Tripoli Regions of Libya (2009-2018)","authors":"Rowida M Khashebi, Christopher C Patterson, Mostafa S Shebani","doi":"10.4274/jcrpe.galenos.2023.2023-1-17","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-1-17","url":null,"abstract":"Objective: To estimate the incidence rates (IR) and analyse the trend in type 1 diabetes (T1D) among children aged 0-14 years in the West, South, and Tripoli regions of Libya.Methods: A retrospective study was conducted on Libyan children aged 0-14 years with a new diagnosis of T1D who were admitted and/or had their follow-up at Tripoli Children’s Hospital during the period 2004 to 2018. The data were used to estimate the IR and the age-standardized IR per 100,000 population in the studied region for the years 2009-2018. The IRs by sex and age group (0-4, 5-9, 10-14 years) for every calendar year were assessed.Results: A total of 1,213 children were diagnosed during the study period (2004-2018), 49.1% were males with a male-to-female ratio of 1:1.03. The mean age (±standard deviation) at diagnosis was 6.3±3.8 years. The distribution of incident cases according to age group 0-4, 5-9, and 10-14 years was 38.2%, 37.8%, and 24.1%, respectively. Poisson regression modelling in the period 2009-2018 revealed an overall trend of a 2.1% increase per annum. In the period 2014-2018, the overall age-adjusted IR was 31.7 (95% confidence interval: 29.2-34.2) per 100,000 population, the IRs of age groups 0-4, 5-9, and 10-14 years were 36.0, 37.4, and 21.6 per 100,000, respectively.Conclusion: The incidence of T1D in Libyan children in the West, South, and Tripoli regions appears to be rising, with a higher rate in the 0-4 and 5-9 year age groups.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683548/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9537142","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}

引用次数: 1

Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia 先天性肾上腺增生症患儿焦虑和抑郁的筛查

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-11-22 Epub Date: 2023-07-20 DOI: 10.4274/jcrpe.galenos.2023.2023-2-10

Marianne Jacob, Karen Lin-Su, Corinne Catarozoli, Charlene Thomas, Dix Poppas, Oksana Lekarev

{"title":"Screening for Anxiety and Depression in Children with Congenital Adrenal Hyperplasia","authors":"Marianne Jacob, Karen Lin-Su, Corinne Catarozoli, Charlene Thomas, Dix Poppas, Oksana Lekarev","doi":"10.4274/jcrpe.galenos.2023.2023-2-10","DOIUrl":"10.4274/jcrpe.galenos.2023.2023-2-10","url":null,"abstract":"Objective: Congenital adrenal hyperplasia (CAH) is an inherited condition in which individuals require multiple daily doses of medication and are at risk for life-threatening adrenal crisis. The chronic nature and severity of CAH place children at risk for psychiatric morbidity. The aim was to assess the degree of anxiety and depressive symptoms in children with CAH.Methods: A cross-sectional cohort study of children (7-17 years) with CAH and their caregivers were recruited between May and December 2021. Children with hypothyroidism (HT) and their caregivers served as unaffected controls. Validated mental health questionnaires [Children’s Depression Inventory 2 Self Report-Short (CDI-2), Screen for Child Anxiety Related Disorders (SCARED), Patient Health Questionnaire modified for Adolescents (PHQ-A); self and proxy] were completed by participants at one clinic visit. Higher scores indicated greater symptoms of anxiety and depression.Results: A total of 60 children and 56 parents participated. Among the children 34 had CAH (68% female, mean age 11.41±2.5, CAH duration 8.5±4.1) and 26 had HT (73% female, mean age 12.7±2.9 years, HT duration 6.0±4.2 years). There was no increase in anxiety and depression symptoms in children with CAH compared to controls. In sub-analyses, children with CAH and controls reported a greater number of anxiety and depression symptoms than their caregivers on the SCARED and CDI-2, respectively. There was no association between adrenal control and the degree of anxiety or depression symptoms.Conclusion: Children with CAH do not have more symptoms of anxiety or depression compared to controls. Child and caregiver-proxy responses lack agreement, suggesting that children with CAH may continue to benefit from routine mental health evaluation, regardless of voiced caregiver concern.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9840408","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}

引用次数: 0

A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report 一种新的杂合NF1变异在神经纤维瘤病-努南综合征患者生长激素缺乏症:一个病例报告。

IF 1.9 4区医学

Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2023-11-22 Epub Date: 2022-05-31 DOI: 10.4274/jcrpe.galenos.2022.2021-12-24

Si Qin, Yindi Zhang, Fadong Yu, Yinxing Ni, Jian Zhong

{"title":"A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report","authors":"Si Qin, Yindi Zhang, Fadong Yu, Yinxing Ni, Jian Zhong","doi":"10.4274/jcrpe.galenos.2022.2021-12-24","DOIUrl":"10.4274/jcrpe.galenos.2022.2021-12-24","url":null,"abstract":"Neurofibromatosis-Noonan syndrome (NFNS), a rare autosomal-dominant hereditary disease, is characterized by clinical manifestations of both neurofibromatosis type 1 (NF1) and NS. We present a case of NFNS with short stature caused by a heterozygous nonsense variant of the NF1 gene. A 12-year-old boy was admitted because of short stature, numerous café-au-lait spots, low-set and posteriorly rotated ears, sparse eyebrows, broad forehead, and inverted triangular face. Cranial and spinal magnetic resonance imaging showed abnormal nodular lesions. Molecular analysis revealed a novel heterozygous c.6189 C > G (p.(Tyr2063*)) variant in the NF1 gene. The patient was not prescribed recombinant growth hormone (GH) therapy because exogenous GH may have enlarged the abnormal skeletal lesions. During follow-up, Lisch nodules were found in the ophthalmologic examination. NFNS, a variant form of NF1, is caused by heterozygous mutations in the NF1 gene. The mechanism of GH deficiency caused by NF1 is still unclear. Whether NFNS patients should be treated with exogenous GH remains controversial.","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2023-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43769266","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}

引用次数: 1