Article
Endocrinology & Metabolism
Chiho Sugisawa, Satoshi Narumi, Kanako Tanase-Nakao, Ayako Hoshiyama, Nami Suzuki, Hidemi Ohye, Miho Fukushita, Masako Matsumoto, Ai Yoshihara, Natsuko Watanabe, Kiminori Sugino, Akira Hishinuma, Jaeduk Yoshimura Noh, Ryohei Katoh, Matsuo Taniyama, Koichi Ito
Summary: This study aimed to investigate the thyroid morphology and function of adult patients with congenital hypothyroidism (CH). The findings revealed the presence of thyroid dysgenesis, thyroid nodules, and genetic defects among the patients. The study results suggest that adults with thyroid dysgenesis may have relative triiodothyronine deficiency during levothyroxine replacement therapy.
Article
Endocrinology & Metabolism
Katia Perri, Letizia De Mori, Domenico Tortora, Maria Grazia Calevo, Anna E. M. Allegri, Flavia Napoli, Giuseppa Patti, Daniela Fava, Marco Crocco, Maurizio Schiavone, Emilio Casalini, Mariasavina Severino, Andrea Rossi, Natascia Di Iorgi, Roberto Gastaldi, Mohamad Maghnie
Summary: Children with permanent congenital hypothyroidism have lower cognitive scores compared to those with transient CH and healthy controls. Offspring born to mothers with Hashimoto's thyroiditis or with a family history of thyroid disorders also show lower IQ values and cognitive functions. Significant correlations between white matter microstructural abnormalities, clinical measures, and cognitive impairment were found in children with permanent CH.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Hortense Didier-Mathon, Athanasia Stoupa, Dulanjalee Kariyawasam, Sonny Yde, Beatrix Cochant-Priollet, Lionel Groussin, Frederic Sebag, Nicolas Cagnard, Patrick Nitschke, Dominique Luton, Michel Polak, Aurore Carre
Summary: BOREALIN/CDCA8 mutations are associated with congenital hypothyroidism and thyroid dysgenesis. Borealin plays a critical role in mitosis and may also contribute to thyroid cancer susceptibility.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Gerdi Tuli, Jessica Munarin, Luisa De Sanctis
Summary: The study revealed significant differences in gender ratio, TSH levels, levothyroxine requirement at diagnosis, etc. At diagnosis, 52.7% of patients were found to have permanent CH and 47.3% were diagnosed with TCH.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Medicine, General & Internal
Rui Liu, Jing-Li Tian, Xiao-Ling Huang, Yuan-Zong Song
Summary: This study investigated the clinical and genetic characteristics of primary congenital hypothyroidism (CH), and found that genetic variants causing thyroid dysfunction were the main cause of the disease. Most patients had a favorable prognosis, but systematic management for CH patients remains a challenge.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Endocrinology & Metabolism
Stephanie Larrivee-Vanier, Martineau Jean-Louis, Fabien Magne, Helen Bui, Guy A. Rouleau, Dan Spiegelman, Mark E. Samuels, Zoha Kibar, Guy Van Vliet, Johnny Deladoey
Summary: No new predisposing genes were found in NS-CHTD through unbiased analysis of WES data. However, the discovery rate of rare pathogenic or likely pathogenic variants was 42%. Some cases carried multiple variants in genes associated with TD or dyshormonogenesis, but these variants did not explain the variability of hypothyroidism in dysgenesis. Therefore, the etiology of NS-CHTD is complex and further studies are needed.
Article
Endocrinology & Metabolism
Richard J. Q. McNally, Jeremy H. Jones, Mohamad Guftar Shaikh, Malcolm D. C. Donaldson, Karen Blakey, Tim D. Cheetham
Summary: The study analyzed the situation of congenital hypothyroidism (CHT) in Scotland from 1979 to 2015. The results showed that the incidence of CHT increased with the year of birth, but there was no seasonality. Although there was no evidence of overall space-time clustering, clustering was observed in babies with DG.
Article
Medical Laboratory Technology
Lingna Zhou, Shuang Liu, Wei Long, Lei-lei Wang, Bin Yu
Summary: This study investigated patients with congenital hypothyroidism (CH) and found that genetic variants related to the disease were mainly present in patients with thyroid dysgenesis (TD). DUOX2 gene mutations were frequently detected and these patients required lower doses of thyroid hormone treatment. These findings provide important insights into the molecular etiology and clinical features of CH.
CLINICA CHIMICA ACTA
(2023)
Article
Biochemistry & Molecular Biology
Satoshi Narumi, Robert Opitz, Keisuke Nagasaki, Koji Muroya, Yumi Asakura, Masanori Adachi, Kiyomi Abe, Chiho Sugisawa, Peter Kuehnen, Tomohiro Ishii, Markus M. Noethen, Heiko Krude, Tomonobu Hasegawa
Summary: This study identified the first risk locus for congenital hypothyroidism due to thyroid dysgenesis, providing insights into the potential mechanism mediated by the Wnt signaling pathway.
HUMAN MOLECULAR GENETICS
(2022)
Article
Medical Laboratory Technology
Liangshan Li, Chenlu Jia, Xiaole Li, Fang Wang, Yangang Wang, Yanping Chen, Shiguo Liu, Dehua Zhao
Summary: A study in Henan Province, China found a mutation rate of 3.63% in TTF genes among congenital hypothyroidism (CH) cases, with mutated PAX8 being the most predominant genetic alteration. Patients with the same genotype may exhibit significant phenotypic variability, indicating that genetic alternations in TTF genes play a role not only in TD but also in GIS.
CLINICA CHIMICA ACTA
(2021)
Article
Endocrinology & Metabolism
Athanasia Stoupa, Dulanjalee Kariyawasam, Adrien Nguyen Quoc, Michel Polak, Aurore Carre
Summary: Congenital hypothyroidism (CH) is the most common endocrine disorder in newborns and can lead to significant developmental and growth issues if not diagnosed and treated early. Detecting CH through newborn screening programs is cost-effective and highly accurate, but many countries have yet to implement these programs.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Multidisciplinary Sciences
Toby Candler, Noah Kessler, Chathura Gunasekara, Kate Ward, Philip James, Eleonora Laritsky, Maria Baker, Roger Dyer, Rajavel Elango, David Jeffries, Robert Waterland, Sophie Moore, Marian Ludgate, Andrew Prentice, Matt Silver
Summary: The study suggests that PAX8 hypomethylation in the periconceptional environment may lead to increased thyroid volume and higher levels of free T4 in children, impacting body fat and bone density. Maternal nutrition is linked to offspring PAX8 methylation, and genetic factors may influence methylation variability.
Article
Endocrinology & Metabolism
Ranran Shi, Ming Zhang, Yao Chen, Meiying Han, Ping Xu, Min Li, Yanjie Ding, Xiaohui Zhang, Yan Kou, Haiyan Xu, Fangru Zong, Xinjian Liu, Hui Wang, Haiying He, Qiang Liu, Weikang Kong, Shiping Niu, Xia Li, Lei Huang, Qinghua Lu, Xiaofang Wang, Liping Deng, Zhenying Yang, Xiao Zhang, Rongrong Sun, Riming Zhao, Jing Shi, Fudong Peng, Xueming Sun, Guoying Zhao, Xinfeng Zhao, Yonghong Ge, Nan Zhang, Renxia Zhu, Jing Li, Haiyan Li, Huijuan Hao, Yonghui Yu
Summary: The study aimed to investigate the relationship between thyroid indicators and postmenstrual age in very preterm infants. The results showed that the percentile charts of TSH values gradually increased initially and then decreased with increasing PMA, while the FT4 values reached their lowest point at PMA26-27 weeks and gradually increased to the level of full-term infants at PMA38-40 weeks.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Endocrinology & Metabolism
Rui-Jia Zhang, Guang-lin Yang, Feng Cheng, Feng Sun, Ya Fang, Cao-Xu Zhang, Zheng Wang, Feng-Yao Wu, Jun-Xiu Zhang, Shuang-Xia Zhao, Jun Liang, Huai-Dong Song
Summary: This study expanded the variant spectrum of the genes related to TD in Chinese CH patients. It is rare that CH in Chinese patients could be explained by monogenic germline variants in genes related to TD. The hypothesis of an oligogenic origin of the CH should be considered.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Paul van Trotsenburg, Athanasia Stoupa, Juliane Leger, Tilman Rohrer, Catherine Peters, Laura Fugazzola, Alessandra Cassio, Claudine Heinrichs, Veronique Beauloye, Joachim Pohlenz, Patrice Rodien, Regis Coutant, Gabor Szinnai, Philip Murray, Beate Bartes, Dominique Luton, Mariacarolina Salerno, Luisa de Sanctis, Mariacristina Vigone, Heiko Krude, Luca Persani, Michel Polak
Summary: The updated guidelines provide recommendations on neonatal screening, diagnosis, treatment, and follow-up of children with congenital hypothyroidism. It emphasizes the immediate start of levothyroxine treatment, regular follow-up, monitoring of thyroid hormone levels, neurodevelopment assessment, and proper transition of care. Further studies are needed to understand the rising incidence of this condition.
Article
Endocrinology & Metabolism
Nelgin Gerenli, Fatma Dursun, Coskun Celtik, Heves Kirmizibekmez
Summary: The study found that low bone mineral density is common in children with celiac disease at the time of diagnosis, but can be improved in a short period of six months with strict adherence to a gluten-free diet and adequate supplementation of calcium and vitamin D.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Didem Helvacioglu, Serap Demircioglu Turan, Tulay Guran, Zeynep Atay, Adnan Dagcinar, Digdem Bezen, Esin Karakilic Ozturan, Feyza Darendeliler, Aysegul Yuksel, Fatma Dursun, Suna Kilinc, Serap Semiz, Saygin Abali, Metin Yildiz, Asan Onder, Abdullah Bereket
Summary: The study showed that while age and LH/FSH ratio are significant predictors of CNS lesions in girls with central precocious puberty, their predictive power is weak. Therefore, despite the low likelihood of finding a lesion requiring intervention, systematic MRI appears to be the most efficient current approach.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Endocrinology & Metabolism
Uta Neumann, Annelieke van der Linde, Ruth E. Krone, Nils P. Krone, Ayla Guven, Tulay Guran, Heba Elsedfy, Sukran Poyrazoglu, Feyza Darendeliler, Tania A. S. S. Bachega, Antonio Balsamo, Sabine E. Hannema, Niels Birkebaek, Ana Vieites, Ajay Thankamony, Martine Cools, Tatjana Milenkovic, Walter Bonfig, Eduardo Correa Costa, Navoda Atapattu, Liat de Vries, Guilherme Guaragna-Filho, Marta Korbonits, Klaus Mohnike, Jillian Bryce, S. Faisal Ahmed, Bernard Voet, Oliver Blankenstein, Hedi L. Claahsen-van der Grinten
Summary: This study analyzed the use of salt supplementation, medication dosage, and growth indicators in children with CAH aged 0-3 years. The results showed that in children receiving additional salt supplementation, medication dosages were lower during the first months of life but there were no differences in weight, height, and blood pressure compared to those not receiving salt supplementation. All children showed an increase in BMI-SDS and a high proportion of blood pressure readings exceeding the normal range.
EUROPEAN JOURNAL OF ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Heves Kirmizibekmez, Yasemin Kendir Demirkol, Ozlem Akgun Dogan, Gulcan Seymen, Elif Inan Balci, Pinar Atla, Fatma Dursun
Summary: Genetic factors play a crucial role in childhood obesity, with MC4R deficiency being a common cause. This study aimed to estimate the frequency of MC4R variants and polymorphisms in Turkish children with early-onset obesity, revealing known variations in some patients and pathogenic polymorphisms associated with obesity in others. The findings suggest the importance of investigating MC4R in individuals with early-onset obesity and a family history of obesity, as well as identifying potential clinical implications such as hypertension and insulin resistance.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Neil Lawrence, Irina Bacila, Jeremy Dawson, Jillian Bryce, Salma R. Ali, Erica L. T. van den Akker, Tania A. S. S. Bachega, Federico Baronio, Niels H. Birkebaek, Walter Bonfig, Hedi C. van der Grinten, Eduardo C. Costa, Liat de Vries, Heba Elsedfy, Ayla Guven, Sabine Hannema, Violeta Iotova, Hetty J. van der Kamp, Maria C. Leon, Corina R. Lichiardopol, Tatjana Milenkovic, Uta Neumann, Ana Nordenstrom, Sukran Poyrazoglu, Ursina Probst-Scheidegger, Luisa De Sanctis, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Ana Vieites, Zehra Yavas, Syed Faisal Ahmed, Nils Krone
Summary: This study evaluated the relationship between 17OHP and D4 with HC dose in CAH patients using real-world data. The results showed significant variability in biomarker values among patients and a good correlation between D4 and age, while 17OHP was not significantly associated with age. HC dose was negatively correlated with weight gain.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Endocrinology & Metabolism
Asli Demirtas, Burcu Aykanat Girgin, Ayla Guven, Heves Kirmizibekmez
Summary: The study evaluated the psychometric properties of the Diabetes Strengths and Resilience Measure for Adolescents with Type 1 Diabetes (DSTAR-Teen) in Turkish adolescents with T1DM. The results showed that the Turkish DSTAR-Teen is a valid and reliable instrument that can be used to evaluate strengths and resilience associated with diabetes management in adolescents with T1DM in Turkey.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2022)
Article
Pediatrics
Eylem Kiral, Birgul Kirel, Merve Havan, Mehmet Keskin, Murat Karaoglan, Ahmet Yildirim, Murat Kangin, Mehmet Nur Talay, Tuba Urun, Umit Altug, Selman Kesici, Erennur Tufan, Ebru Kacmaz, Gurkan Bozan, Ebru Azapagasi, Mutlu Uysal Yazici, Zeynelabidin Ozturk, Osman Yesilbas, Gulay Karaguzel, Gulay Kaya, Ulkem Barlas, Muhterem Duyu, Merve Boyraz, Esra Sevketoglu, Nihal Akcay, Suna Hancili, Ayla Guven, Oguz Dursun, Nazan Ulgen Tekerek, Gokcen Ozcifci, Pinar Yazici, Eda Turanli, Tanil Kendirli, Fevzi Kahveci, Ayse Filiz Yetimakman, Agop Citak, Guntulu Sik, Ibrahim Bingol, Fatih Aygun, Cansu Durak, Resul Yilmaz, Fuat Bugrul, Yusuf Sari, Hakan Tekguc, Hatice Albayrak, Nazik Yener, Hasan Agin, Ekin Soydan, Dincer Yildizdas, Semine Ozdemir Dilek, Nilufer Yalindag, Feyza Incekoy-Girgin, Nuri Alacakir, Filiz Tutunculer, Mehmet Ozgur Arslanaoglu, Can Aydin, Muzaffer Bilgin, Enver Simsek, Ener Cagri Dinleyici
Summary: This study evaluated the impact of the COVID-19 pandemic on children with type 1 diabetes. The results showed that during the pandemic, there was a higher percentage of new-onset type 1 diabetes cases presenting with DKA and a higher incidence of severe DKA. HbA1c levels, duration of insulin infusion, and length of PICU stay were also significantly increased during the pandemic.
FRONTIERS IN PEDIATRICS
(2022)
Article
Endocrinology & Metabolism
Fatma Dursun, Zekeriya Ilce, Ilkay Tosun, Pinar Atla, Sevinc Kalin, Fatma Tugba Guvenc, Ulku Miray Yildirim, Heves Kirmizibekmez
Summary: Adrenocortical tumor (ACT) is a rare malignant tumor that often presents with Cushing syndrome and virilization. Paraneoplastic syndromes (PNS) can occur due to peptides or cytokines secreted by the tumor. We report a case of severe masculinization in an 8-month-old male infant. After tumor resection, the levels of androgens and beta-hCG returned to normal, and the clinical symptoms improved within a few months.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Furkan Erdogan, Ayla Guven
Summary: This study retrospectively analyzed the pubertal development of children with Down syndrome (DS) and found that girls with DS have an earlier age of menarche compared to their healthy peers, while boys with DS have a longer duration of puberty. Additionally, there is a tendency towards obesity in the whole DS population.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Review
Medicine, General & Internal
Milena Cioana, Jiawen Deng, Ajantha Nadarajah, Maggie Hou, Yuan Qiu, Sondra Song Jie Chen, Angelica Rivas, Laura Banfield, Parm Pal Toor, Fangwen Zhou, Ayla Guven, Haifa Alfaraidi, Ahlam Alotaibi, Lehana Thabane, M. Constantine Samaan
Summary: The findings of this systematic review and meta-analysis suggest that obesity is not a universal phenotype in children with T2D. Male participants had a higher risk of obesity compared to female participants, and Asian participants had the lowest prevalence of obesity while White participants had the highest prevalence.
Meeting Abstract
Endocrinology & Metabolism
Xanthippi Tseretopoulou, Salma R. Ali, Jillian Bryce, Atapattu Navoda, Niels H. Birkebaek, Federico Baronio, Walter Bonfig, Hedi L. Claahsen-van der Grinten, Martine Cools, Feyza Darendeliler, Sukran Poyrazoglu, Luisa de Sanctis, Heba Elsedfy, Martijn J. J. Finken, Christa E. Fluck, Evelien Gevers, Marta Korbonits, Tulay Guran, Ayla Guven, Ieuan A. Hughes, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Violeta Iotova, Ruth Krone, Corina Lichiardopol, Berenice B. Mendonca, Tania A. S. S. Bachega, Mirela C. Miranda, Tatjana Milenkovic, Klaus Mohnike, Anna Nordenstrom, Hetty J. van der Kamp, Syed Faisal Ahmed
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Neil R. Lawrence, Irina Bacila, Jeremy Dawson, Salma R. Ali, Erica L. T. van den Akker, Tania Aparecida Sartori Sanchez Bachega, Federico Baronio, Niels Holtum Birkebaek, Walter Bonfig, Claahsen van der Grinten, Martine Cools, Eduardo Correa Costa, Liat de Vries, Christa Fluck, Gabriella Gazdagh, Ayla Guven, Sabine Hannema, Violeta Iotova, Hetty J. van der Kamp, Ruth Krone, Sofia Leka-Emiri, Maria Clemente Leon, Corina Raducanu Lichiardopol, Renata L. Markosyan, Tatjana Milenkovic, Mirela Costa de Miranda, Uta Neumann, John Newell-Price, Sukran Poyrazoglu, Ursina Probst-Scheidegger, Gianni Russo, Luisa De Sanctis, Adam Safwaan, Sumudu Seneviratne, Marianna Rita Stancampiano, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Ana Vieites, Malgorzata Wasniewska, Diego Yeste, Eleni Daniel, Jeremy Tomlinson, S. Faisal Ahmed, Nils Krone
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Rieko Tadokoro-Cuccaro, Ieuan Hughes, Martine Cools, Koen van de Vijver, Berenice Bilharinho de Mendonca, Sorahia Domenice, Rafael L. Batista, Renata Thomazini Dallago, Nathalia Lisboa Gomes, Elaine F. Costa, Andrea T. Maciel-Guerra, Gil Guerra-Junior, Juliana Gabriel Ribeiro de Andrade, Angela Lucas-Herald, Jillian Bryce, Sabine Hannema, Anders Juul, Eugenia Globa, Kenneth M. Elreavey, Federico Baronio, Jimena Lopez Dacal, Feyza Darendeliler, Sukran Poyrazoglu, Zofia Kolesinska, Marek Niedziela, Hedi L. Claahsen-van der Grinten, Erica L. T. van den Akke, Gloria Herrmann, Navoda Atapattu, Vandana Jain, Rajni Sharma, Markus Bettendorf, Daniel Konrad, Paul Martin Holterhus, Simona Fica, Mars Skae, Gianni Russo, Marianna Rita Stancampiano, Gabriella Gazdagh, Justin H. Davies, Zainaba Mohamed, Sumudu Nimali Seneviratne, Tulay Guran, Ayla Guven, Malgorzata Wasniewska, Vilhelm Mladenov, Gilvydas Verkauskas, Renata Markosyan, Marta Korbonits, S. Faisal Ahmed, Olaf Hiort, Isabel Wagner, Ajay Thankamony
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Developmental Biology
Rieko Tadokoro Cuccaro, Ieuan Hughes, Martine Cools, Koen van de Vijver, Berenice Bilharinho de Mendonca, Sorahia Domenice, Rafael L. Batista, Renata Thomazini Dallago, Nathalia Lisboa Gomes, Elaine F. Costa, Andrea T. Maciel-Guerra, Gil Guerra-Junior, Juliana Gabriel Ribeiro de Andrade, Angela Lucas-Herald, Jillian Bryce, Sabine Hannema, Anders Juul, Eugenia Globa, Kenneth M. Elreavey, Federico Baronio, Jimena Lopez Dacal, Feyza Darendeliler, Sukran Poyrazoglu, Zofia Kolesinska, Marek Niedziela, Hedi Claahsen, Erica L. T. van den Akker, Gloria Herrmann, Navoda Atapattu, Vandana Jain, Rajni Sharma, Markus Betterdorf, Daniel Konrad, Paul Martin Holterhus, Simona Fica, Mars Skae, Gianni Russo, Marianna Rita Stancampiano, Gabriella Gazdagh, Justin H. Davies, Zainaba Mohamed, Sumudu Nimali Seneviratne, Tulay Guran, Ayla Guven, Malgorzata Wasniewska, Vilhelm Mladenov, Gilvydas Verkauskas, Renata Markosyan, Marta Korbonits, Olaf Hiort, IsabelViola Wagner, S. Faisal Ahmed, Ajay Thankamony
SEXUAL DEVELOPMENT
(2022)
Article
Pediatrics
Gul Yesiltepe Mutlu, Elif Eviz, Belma Haliloglu, Heves Kirmizibekmez, Fatma Dursun, Servan Ozalkak, Atilla Cayir, Beste Yuksel Sacli, Mehmet Nuri Ozbek, Huseyin Demirbilek, Sukru Hatun
Summary: During the Covid-19 pandemic, there was an increase in the number of girls presenting with early puberty. This study retrospectively evaluated the characteristics of girls referred for precocious puberty evaluation in five pediatric endocrinology units, before and during the pandemic. The results showed that the age at presentation and pubertal onset were lower in the pandemic group compared to the pre-pandemic group, and there was an increased need for pubertal suppression therapy during the pandemic.
ITALIAN JOURNAL OF PEDIATRICS
(2022)
