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
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
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
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
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
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
Genetics & Heredity
Philipp Vick, Birgit Eberle, Daniela Choukair, Birgit Weiss, Ralph Roeth, Isabelle Schneider, Nagarajan Paramasivam, Markus Bettendorf, Gudrun A. Rappold
Summary: A novel genetic risk factor, the ZBTB26 gene, has been associated with congenital primary hypothyroidism. Experimental evidence suggests its crucial role in thyroid development.
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
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
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
Juliane Leger, Clemence Delcour, Jean-Claude Carel
Summary: This article discusses the diagnosis and management of fetal and neonatal thyroid dysfunctions, including congenital hypothyroidism, autoimmune hyperthyroidism, and other rare disorders. Early diagnosis and treatment are crucial in preventing irreversible neurodevelopmental delay.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Adina Sophie Graffunder, Sarah Paisdzior, Robert Opitz, Kostja Renko, Peter Kuehnen, Heike Biebermann
Summary: MCT8 is a crucial thyroid hormone transporter involved in fetal development. By introducing a TC-tag in the MCT8 protein, it is possible to monitor its expression in real time in cell culture models, potentially leading to the development of stable hiPSC MCT8 reporter lines for future studies.
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES
(2022)
Article
Endocrinology & Metabolism
Busra Gurpinar Tosun, Ahsen Karagozlu Akgul, Eda Almus, Sadik Abidoglu, Serap Turan, Abdullah Bereket, Tulay Guran
Summary: A 7-year-old girl developed clitoral swelling and pain after an appendectomy, which was diagnosed as clitoral priapism based on color Doppler ultrasound findings. Treatment with oral pseudoephedrine and intracavernosal aspiration significantly improved the symptoms. This case highlights clitoral priapism as a rare, non-hormonal cause of clitoromegaly, which may occur after appendectomy.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2023)
Letter
Medicine, General & Internal
Peter Kuehnen, Karine Clement
Summary: In this follow-up study on two patients with POMC deficiency, treatment with the MC4R agonist setmelanotide resulted in long-term reduction in body weight and BMI, and induced satiety.
NEW ENGLAND JOURNAL OF MEDICINE
(2022)
Article
Endocrinology & Metabolism
Serap Turan
Summary: Dysosteosclerosis (DSS) is a skeletal dysplasia with variable clinical and radiological features. There is increasing genetic heterogeneity associated with DSS, with mutations in multiple genes. The radiographic features of DSS evolve with increasing patient age. Fractures are the main presentation of DSS, but different genotypes have different extra-skeletal features and complications.
Review
Endocrinology & Metabolism
Tarik Kirkgoz, Saygin Abali, Askin Seker, Busra Gurpinar Tosun, Mehmet Eltan, Didem Helvacioglu, Belma Haliloglu, Sare Betul Kaygusuz, Zehra Yavas Abali, Tuba Seven Menevse, Suheyla Bozkurt, Tunc Ones, Tulay Guran, Adnan Dagcinar, Abdullah Bereket, Serap Turan
Summary: Thyrotropin-producing pituitary adenoma (TSHoma) is a rare disease that is characterized by elevated thyroid hormones and normal/high TSH concentrations. The diagnosis, treatment, and follow-up of TSHomas are challenging, and pediatric TSHomas can lead to accelerated bone maturation and short stature.
HORMONE RESEARCH IN PAEDIATRICS
(2023)
Article
Endocrinology & Metabolism
Tulay Guran, Didem Helvacioglu, Busra Gurpinar Tosun, Zehra Yavas Abali, Fahriye Alir, Yusuf Taha Arslan, Giasim Molla, Berk Sahin, Mehmet Emir Sayar, Zeynep Atay, Belma Haliloglu, Korcan Demir, Serap Turan, Seyhan Hidiroglu, Abdullah Bereket
Summary: This study found a significant decrease in the age of menarche among girls in Istanbul over the past twelve years. The results suggest that genetic factors and body mass index play important roles in the age at menarche.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
(2023)
Article
Genetics & Heredity
Ceren Alavanda, Esra Arslan Ates, Zehra Yavas Abali, Bilgen Bilge Geckinli, Serap Turan, Ahmet Arman
Summary: Schaaf-Yang syndrome (SHFYNG) is a rare pleiotropic disorder characterized by hypotonia, joint contractures, autism spectrum disorders (ASD), and developmental delay/intellectual disability. This study identified two patients with SHFYNG syndrome, each having unique truncating variants in the MAGEL2 gene, one inherited and one de novo. The patients exhibited a range of symptoms including obesity, brachydactyly, dysmorphic features, contractures, severe hypotonia, and early death, highlighting the phenotypic diversity of the syndrome.
Article
Endocrinology & Metabolism
Tarik Kirkgoz, Sare Betul Kaygusuz, Ceren Alavanda, Didem Helvacioglu, Zehra Yavas Abali, Busra Gurpinar Tosun, Mehmet Eltan, Tuba Seven Menevse, Tulay Guran, Ahmet Arman, Serap Turan, Abdullah Bereket
Summary: The objective of this study was to investigate the frequency of MKRN3 gene mutations in a cohort of patients with central precocious puberty (CPP). Next-generation sequencing analysis revealed two novel mutations and one known mutation in the MKRN3 gene, with two of the novel mutations predicted to be pathogenic. The frequency of MKRN3 gene mutations in our cohort of CPP patients was slightly lower than reported in the literature.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
(2023)
Editorial Material
Pediatrics
Zeynep Alize Ay, Saygin Abali, Ayse Korkmaz, Serdar Beken
PEDIATRICS AND NEONATOLOGY
(2023)
Article
Medicine, General & Internal
Saygin Abali, Yasemin Akin
Summary: This study evaluated the cases of pediatric diabetes mellitus admitted to a pediatric endocrinology unit for two years. The study found a higher rate of monogenic diabetes among children and adolescents with diabetes, which needs attention. The occurrence of diabetic ketoacidosis (DKA) remained high, indicating the need for increased awareness and education about diabetes.
MEDICAL JOURNAL OF BAKIRKOY
(2023)
Meeting Abstract
Endocrinology & Metabolism
Zehra Yavas Abali, Esra Arslan Ates, Mehmet Eltan, Busra Gurpinar Tosun, Abdullah Bereket, Tulay Guran, Serap Turan
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Atilla Cayir, Huseyin Demirbilek, Ayberk Turkyilmaz, Serap Turan, Abdullah Bereket, Feyza Darendeliler, Mehmet Nuri Ozbek, Edip Unal, Deniz Okdemir, Ihsan Esen, Erdal Eren, Ruken Yildirim, Semra Cetinkaya, Kadriye Cansu Sahin, Ahmet Anik, Ayse Sena Donmez, Ayse Pinar Ozturk, Elvan Bayramoglu, Muammer Buyukinan, Fatih Gurbuz, Korcan Demir, Suna Kilinc, Sare Betul Kaygusuz, Gamze Celmeli, Beray Selvi Eklioglu, Sezer Acar, Fatma Dursun, Ihsan Turan, Beyhan Ozkaya, Erdal Kurnaz, Riza Taner Baran, Behzat Ozkan
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Endocrinology & Metabolism
Mehmet Eltan, Ceren Alavanda, Zehra Yavas Abali, Elvan Bayramoglu, Sare Betul Kaygusuz, Didem Helvacioglu, Busra Gurpinar Tosun, Tuba Seven Menevse, Pinar Ata, Tulay Guran, Abdullah Bereket, Serap Turan
HORMONE RESEARCH IN PAEDIATRICS
(2022)
Meeting Abstract
Developmental Biology
Tulay Guran, Esra Arslan Ates, Mehmet Eltan, Bahadir Sahin, Busra Gurpinar Tosun, Tuba Seven Menevse, Bilgen Bilge Geckinli, Andy Greenfield, Serap Turan, Abdullah Bereket
SEXUAL DEVELOPMENT
(2022)