Athanasia Stoupa, Dulanjalee Kariyawasam, Marina Muzza, Tiziana de Filippis, Laura Fugazzola, Michel Polak, Luca Persani, Aurore Carré
INTRODUCTION: Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and one of the most common preventable forms of mental retardation worldwide. CH is due to thyroid development or thyroid function defects (primary) or may be of hypothalamic-pituitary origin (central). Primary CH is caused essentially by abnormal thyroid gland morphogenesis (thyroid dysgenesis, TD) or defective thyroid hormone synthesis (dyshormonogenesis, DH). TD accounts for about 65% of CH, however a genetic cause is identified in less than 5% of patients...
March 1, 2021: Endocrine
Fang-Fei Xiao, Yi-Zhong Wang, Fang Dong, Xiao-Lu Li, Ting Zhang
BACKGROUND: Congenital hepatic fibrosis (CHF) is a rare autosomal recessive disorder characterized by variable degrees of periportal fibrosis and malformation of bile ducts. CHF is generally accompanied by a variety of conditions or syndromes with other organ involvement. CASE SUMMARY: We report a 5-year-4-month-old Chinese boy with congenital hypothyroidism (CH) diagnosed with CHF. The patient was diagnosed with CH by a newborn screening test and has since been taking levothyroxine...
February 26, 2021: World Journal of Clinical Cases
David O'Neil Danis, Olaf Bodamer, Jessica R Levi
OBJECTIVES: Sotos syndrome 1 (SOTOS1; MIM:117550) is rare genetic disorder characterized by excessive physical growth before and after birth, distinctive facial features, a large and elongated head, and intellectual disability (Sotos et al., 1964; Tatton-Brown et al., 1993). This systematic review aims to determine otolaryngologic conditions and complications of SOTOS1 based on existing literature through a review of current and past case reports and studies regarding SOTOS1. METHODS: A systematic review of all published literature (1964-2020) describing otolaryngologic conditions and/or complications of patients with SOTOS1...
February 12, 2021: International Journal of Pediatric Otorhinolaryngology
Younes Sbihi, Najia El Abbadi, Abdelghani Iddar
Congenital hypothyroidism (CH) is one of the most common preventable causes of mental retardation. The majority of infants are diagnosed after detection through newborn screening programs using thyroid-stimulating hormone (TSH) test. A rapid immunochromatographic lateral flow assay based on monoclonal antibodies (MAbs) colloidal gold nanoparticles was developed in a sandwich format for the detection of TSH. Two MAbs binding distinct TSH epitopes are used; one is conjugated to the detection reagent while the other is immobilized at the test line on the membrane...
February 26, 2021: Journal of Immunoassay & Immunochemistry
Fengqi Wang, Li Xiaole, Ruixin Ma, Dehua Zhao, Shiguo Liu
PURPOSE: The objectives of this study were to analyze the distribution of Dual oxidase (DUOX) system genes (containing DUOX2, DUOX1, DUOXA2 and DUOXA1) variants in children with congenital hypothyroidism and their phenotypes. METHODS: Target region sequencing technology was performed on DUOX system genes among 606 congenital hypothyroidism (CH) subjects covering all the exon and intron regions. Detailed clinical data were collected for statistical analysis. RESULTS: A total of 95 suspected pathogenic variants were detected in the DUOX system genes, showing a 39...
February 25, 2021: Endocrinology
Agnieszka Bogusz-Wójcik, Honorata Kołodziejczyk, Elżbieta Moszczyńska, Maja Klaudel-Dreszler, Grzegorz Oracz, Grzegorz Oracz, Joanna Pawłowska, Joanna Pawłowska, Mieczysław Szalecki, Mieczysław Szalecki
Introduction Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by pancreatic exocrine insufficiency, immune deficiency, bone marrow failure and bone malformations. Systematic data concerning endocrine function in SDS are limited. We studied patients diagnosed in The Children's Memorial Health Institute in Warsaw, Poland, to assess the prevalence of various endocrinopathies. Material and Methods In the pilot study, retrospective data were collected for 5 patients with SDS...
February 23, 2021: Endokrynologia Polska
Ladan Mehran, Fereidoun Azizi, Pouria Mousapour, Leila Cheraghi, Shahin Yarahmadi, Golshan Amirshekari, Davood Khalili
OBJECTIVE: To develop a risk prediction model for early discrimination between transient and permanent congenital hypothyroidism (CH). DESIGN AND SETTING: In a retrospective cohort, 1047 confirmed CH neonates, from 15 randomly selected provinces in Iran, were entered to the study. Clinical and biochemical information of transient and permanent cases, distinct at the age of 3 years were retrospectively gathered. RESULTS: Among CH neonates, the overall prevalence of permanent CH was 57...
February 22, 2021: Endocrine
Hester Vlaardingerbroek
Both insufficient and excessive maternal iodine consumption can result in congenital hypothyroidism. In East Asian cultures, seaweed is traditionally consumed in high quantities by peripartum women as it is thought to improve lactation. We present a case of transient congenital hypothyroidism due to maternal seaweed consumption at a daily basis during pregnancy and lactation in a Dutch family without Asian background. This case highlights that even in families of non-Asian background, high maternal intake of iodine-rich seaweed occurs and can result in transient or permanent hyperthyrotropinemia in the neonate with risk of impaired neurodevelopmental outcome if untreated...
February 19, 2021: BMJ Case Reports
Qin Liu, Yuehong Li, Yong Zhou
Accumulating reports have indicated that congenital hypothyroidism (CH) is an endocrine disorder caused by underdeveloped thyroid gland or thyroid dyshormonogenesis. It has been also reported that certain microRNAs (miRNAs) may exert protective effects against the development of CH. However, whether miR-489-3p regulates CH progression remains unclear. The aim of the present study was to investigate the effects of miR-489-3p on CH and elucidate the underlying mechanisms. Therefore, Sprague Dawley rats were injected with propylthiouracil (50 mg/day) to establish a CH model...
March 2021: Experimental and Therapeutic Medicine
Martina Kacer, Dilys A Whyte, Ivy Boydstun, Thomas A Wilson
Congenital nephrotic syndrome is commonly associated with hypothyroidism. Thyroid hormone supplementation is recommended as standard of care. The hypothyroidism is postulated to occur secondary to chronic massive proteinuria with loss of thyroid binding globulin, thyroid hormone and iodine. Previous reports have indicated that thyroxin may be discontinued following bilateral nephrectomy. We report our experience with one child with congenital nephrotic syndrome, Finnish type, and hypothyroidism who had a high requirement for thyroxin (100-150 μg/d) from infancy to 4 years of age...
October 22, 2020: Journal of Pediatric Endocrinology & Metabolism: JPEM
Hande Turan, Gürkan Tarçın, Özgür Mete, Ada Bulut Sinoplu, Saadet Olcay Evliyaoğlu, Büge Öz, Oya Ercan
Silent corticotroph tumors are composed of corticotroph cells, but do not manifest any biochemical or clinical evidence of hypercortisolism. A choristoma is a benign, congenital proliferation of histologically mature tissue elements normally not present at the site of occurrence. The existence of adrenocortical cells within the pituitary gland, which can be explained as a choristoma, is a very rare entity, and the co-occurrence of these two entities have only been reported in few cases. In the present case, we report an 11-year-old boy with central hypothyroidism...
February 15, 2021: Journal of Clinical Research in Pediatric Endocrinology
Peter Lauffer, A S Paul van Trotsenburg, Nitash Zwaveling-Soonawala
Screening for hypo- or hyperthyroidism in adults is generally done by measuring the serum thyrotropin (thyroid-stimulating hormone, TSH) concentration. This is an efficient approach in case of suspected acquired thyroid disease. However, in infants and children, congenital hypothalamus-pituitary-thyroid (HPT) axis disorders also need to be considered, including primary and central congenital hypothyroidism, and even rarer thyroid hormone receptor and transporter defects. In primary congenital hypothyroidism, TSH will be elevated, but in the other congenital HPT axis disorders, TSH is usually within the normal range...
February 13, 2021: European Journal of Pediatrics
Yuta Tanimura, Mitsuo Kiriya, Akira Kawashima, Hitomi Mori, Yuqian Luo, Tetsuo Kondo, Koichi Suzuki
Iodine transportation is an important step in thyroid hormone biosynthesis. Uptake of iodine into the thyroid follicle is mediated mainly by the basolateral sodium-iodide symporter (NIS or solute carrier family 5 member 5: SLC5A5), and iodine efflux across the apical membrane into the follicular lumen is mediated by pendrin (SLC26A4). In addition to these transporters, SLC26A7, which has recently been identified as a causative gene for congenital hypothyroidism, was found to encode a novel apical iodine transporter in the thyroid...
February 14, 2021: Endocrine Journal
Madison T Wright, Logan Kouba, Lars Plate
Thyroglobulin (Tg) is a secreted iodoglycoprotein serving as the precursor for triiodothyronine and thyroxine hormones. Many characterized Tg gene mutations produce secretion-defective variants resulting in congenital hypothyroidism. Tg processing and secretion is controlled by extensive interactions with chaperone, trafficking, and degradation factors comprising the secretory proteostasis network. While dependencies on individual proteostasis network components are known, the integration of proteostasis pathways mediating Tg protein quality control and the molecular basis of mutant Tg misprocessing remain poorly understood...
December 8, 2020: Molecular & Cellular Proteomics: MCP
Giuliano Mariani, Massimo Tonaccehra, Mariano Grosso, Emilio Fiore, Pierpaolo Falcetta, Lucia Montanelli, Brunella Bagattini, Paolo Vitti, Harry William Strauss
Goiter, an enlargement of the thyroid gland, is a common endocrine abnormality. Constitutional factors, genetic abnormalities, and/or dietary and environmental factors may contribute to the development of nodular goiter. Most patients with non-toxic nodular goiter are asymptomatic or have only mild mechanical symptoms ("globus pharyngis"). Work-up of these patients includes measurement of TSH, fT3, fT4, thyroid auto-antibodies, ultrasound imaging, thyroid scintigraphy, and fine-needle aspiration biopsy of nodules with certain ultrasound and scintigraphic features...
February 12, 2021: Journal of Nuclear Medicine
Thomas Mookken
Newborn screening is a successful program in many developed countries. In India, the benefits of dried blood spot screening have been recognized and that screening is slowly gaining traction. There are significant issues standing in the way of universal implementation of a newborn screening program in India: awareness, cost, advocacy, public policy, and politics. Three regional screening programs, Chandigarh, Goa, and Kerala could serve as models for other programs in India. The data for this commentary were based on personal experiences from managing public newborn screening programs, searches on PubMed and Google, and personal interactions with experts in the field...
March 25, 2020: International Journal of Neonatal Screening
Anna-Isabella Hijman, Daniel Konrad, Ralph Fingerhut
The purpose of this study was to define reference intervals for total thyroxine (tT4 ) in dried blood samples (DBSs) obtained for newborn screening. The aim of our study was to assess the possible benefit of measuring tT4 concentrations directly in DBSs obtained for newborn screening in premature and term-born infants. In order to have a sufficient number of samples for the extremely premature infants (<30 weeks), we set up a retrospective study, measuring the concentrations in DBSs collected over the previous 21 weeks...
March 4, 2020: International Journal of Neonatal Screening
Rebecca McMahon, Lenore DeMartino, Mycroft Sowizral, Diana Powers, Melissa Tracy, Michele Caggana, Norma P Tavakoli
Newborn screening for congenital hypothyroidism (CH) is performed by measuring the concentration of thyroxine (T4) and/or thyroid-stimulating hormone (TSH) in dried blood spots. Unfortunately, the levels of T4 and TSH vary due to multiple factors, and therefore the false-positive rate for the test is a challenge. We analyzed screening data from 2008 to 2017 to determine the effect of seasonal changes and manufacturer kit lot changes on T4 and TSH values and on numbers of infants referred. Over a 10-year period, we screened 2...
February 3, 2021: International Journal of Neonatal Screening
Jéssica Evelyn de Andrade, Vera Maria Alves Dias, Jonas Jardim de Paula, Ivani Novato Silva
Congenital hypothyroidism (CH) is an important cause of preventable intellectual disability. Implementation of CH neonatal screening programs leading to early treatment has improved cognitive outcome. However, more subtle cognitive impairments are still reported, and there is lack of clarity regarding factors that impact long-term cognitive outcome. Research to better understand these factors can lead to further improvements in the cognitive prognosis for these patients. The current study aimed to evaluate the cognitive performance of adolescents who were early-treated for primary permanent CH and possible associated variables...
February 3, 2021: Child Neuropsychology: a Journal on Normal and Abnormal Development in Childhood and Adolescence
Anjali Verma, Rashika Jain, Neha Babbar, Nancy Pherlin Kharkongor
Hepatic hemangioma is a commonly encountered benign vascular tumour of liver during infancy. Acquired hypothyroidism is one of the rare manifestation of this entity. We report a 4-month-old infant born to a diabetic mother who developed acquired hypothyroidism not responding to treatment due to multiple hepatic hemangiomas. The mechanism behind is increased type 3 deiodinase activity due to hemangiomas of liver, which catalyses conversion of T4 to rT3 and T3 to T2. Hemangiomas were successfully treated with propranolol which lead to its regression and ultimately resulted in euthyroidism...
November 2020: Journal of Family Medicine and Primary Care
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