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congenital hypothyroidism consequences

Charlotte A Heinen, Monique Losekoot, Yu Sun, Peter J Watson, Louise Fairall, Sjoerd D Joustra, Nitash Zwaveling-Soonawala, Wilma Oostdijk, Erica L T van den Akker, Mariëlle Alders, Gijs W E Santen, Rick R van Rijn, Wouter A Dreschler, Olga V Surovtseva, Nienke R Biermasz, Raoul C Hennekam, Jan M Wit, John W R Schwabe, Anita Boelen, Eric Fliers, A S Paul van Trotsenburg
CONTEXT: Isolated congenital central hypothyroidism (CeH) can result from mutations in TRHR, TSHB and IGSF1, but its etiology often remains unexplained. We identified a missense mutation in the Transducin β-like protein 1, X-linked (TBL1X) gene in three relatives diagnosed with isolated CeH. TBL1X is part of the thyroid hormone receptor corepressor-complex. OBJECTIVE: Identification of TBL1X mutations in patients with unexplained isolated CeH, Sanger sequencing of relatives of affected individuals, and clinical and biochemical characterization...
September 7, 2016: Journal of Clinical Endocrinology and Metabolism
Jacoba J Bongers-Schokking, Wilma C M Resing, Wilma Oostdijk, Yolanda B de Rijke, Sabine M P F de Muinck Keizer-Schrama
BACKGROUND: In congenital hypothyroidism (CH) age-specific reference ranges for fT4 and TSH (asRR) are usually used to signal over/under-treatment. We compared the consequences of individual fT4 steady state concentrations (SSC's) and asRR regarding over-treatment signalling and intelligence quotient at 11 years (IQ11) and the effect of early over-treatment with high L-T4 dosages on IQ11. METHODS: 61 patients (27 severe, 34 mild CH) were psychologically tested at 1...
August 5, 2016: Pediatric Research
Gunnar Kleinau, Laura Kalveram, Josef Köhrle, Mariusz Szkudlinski, Lutz Schomburg, Heike Biebermann, Annette Grüters-Kieslich
Naturally occurring thyrotropin (TSH) mutations are rare, which is also the case for the homologous heterodimeric glycoprotein hormones (GPHs) follitropin (FSH), lutropin (LH), and choriogonadotropin (CG). Patients with TSH-inactivating mutations present with central congenital hypothyroidism. Here, we summarize insights into the most frequent loss-of-function β-subunit of TSH mutation C105Vfs114X, which is associated with isolated TSH deficiency. This review will address the following question. What is currently known on the molecular background of this TSH variant on a protein level? It has not yet been clarified how C105Vfs114X causes early symptoms in affected patients, which are comparably severe to those observed in newborns lacking any functional thyroid tissue (athyreosis)...
September 2016: Molecular Endocrinology
Veronica Aiceles, Cristiane da Fonte Ramos
Hypothyroidism is a condition in which the serum levels of thyroid hormones are below that necessary to carry out physiological functions in the body. Hypothyroidism is related to obesity as an increase in body weight gain is seen in hypothyroid patients. Moreover, an inverse correlation between free thyroxine values and body mass index has been reported. Leptin, a polypeptide hormone produced by adipocytes, was originally thought to be an antiobesity hormone due its anorexic effects on hypothalamic appetite regulation...
January 2016: Hormone Molecular Biology and Clinical Investigation
Mohemmed Ajij, Shambhavi, Bijoy Patra, Ankur Singh, Seema Kapoor
BACKGROUND: Pendred syndrome is a rare autosomal recessive condition, characterized by functional impairment of thyroid gland and sensorineural hearing loss. The syndrome presents in patients with homozygous or compound heterozygous mutation. The presentation in the form of neck mass in a newborn is rare. CASE CHARACTERISTICS: A 1 month old baby presented to us with neck mass, which was found to be an enlarged thyroid gland. Thyroid function tests were consistent with hypothyroidism...
August 2016: Journal of Tropical Pediatrics
José Ferreira Gomes Neto, Edward Araujo Júnior, Jesus Irajacy Fernandes Costa, Daniel Aguiar Dias, Lindemberg Barbosa Aguiar, Francisco Herlânio Costa Carvalho
Congenital goiter is considered a rare occurrence, and may be related to hypothyroidism, hyperthyroidism, or euthyroidism. In this report, we describe a case of fetal goiter identified in the 34th gestational week in a 41-year-old secundigravida with normal thyroid functions. A conservative approach was followed; the fetal goiter was monitored via ultrasound, which suggested this was a case of hyperthyroidism. After the birth, tests indicated that the newborn was euthyroidic. Consequently, a more detailed study using non-invasive procedures was deemed necessary to discover the precise cause of the fetal goiter during the gestational period...
January 2016: Obstetrics & Gynecology Science
Fiorella S Belforte, Cintia E Citterio, Graciela Testa, María Cecilia Olcese, Gabriela Sobrero, Mirta B Miras, Héctor M Targovnik, Carina M Rivolta
Iodide Organification defects (IOD) represent 10% of cases of congenital hypothyroidism (CH) being the main genes affected that of TPO (thyroid peroxidase) and DUOX2 (dual oxidasa 2). From a patient with clinical and biochemical criteria suggestive with CH associated with IOD, TPO and DUOX2 genes were analyzed by means of PCR-Single Strand Conformation Polymorphism analysis and sequencing. A novel heterozygous compound to the mutations c.2335-1G>C (paternal mutation, intron 17) and c.3264_3267delCAGC (maternal mutation, exon 24) was identified in the DUOX2 gene...
January 5, 2016: Molecular and Cellular Endocrinology
Esther Schrapers, Laura C Tegtmeyer, Gunter Simic-Schleicher, Volker Debus, Janine Reunert, Sebastian Balbach, Karin Klingel, Ingrid Du Chesne, Anja Seelhöfer, Manfred Fobker, Thorsten Marquardt, Stephan Rust
Phosphoglucomutase 1 deficiency has recently been reported as a novel disease that belongs to two different classes of metabolic disorders, congenital disorders of glycosylation (CDG) and glycogen storage diseases.This paper focuses on previously reported siblings with short stature, hypothyroidism, increased transaminases, and, in one of them, dilated cardiomyopathy (DCM). An intronic point mutation in the PGM1-gene (c.1145-222 G>T) leads to a complex alternative splicing pattern and to almost complete absence of PGM1 activity...
2016: JIMD Reports
Stuart K Shapira, Cynthia F Hinton, Patrice K Held, Elizabeth Jones, W Harry Hannon, Jelili Ojodu
Routine second screening of most newborns at 8-14 days of life for a panel of newborn conditions occurs in 12 U.S. states, while newborns in the other states typically undergo only a single routine newborn screen. The study objective was to evaluate screening consequences for primary congenital hypothyroidism (CH) in one- and two-screen states according to laboratory practices and medical or biochemical characteristics of screen-positive cases. Individual-level medical and biochemical data were retrospectively collected and analyzed for 2251 primary CH cases in one-screen (CA, WI) and two-screen (AL, DE, MD, OR, TX) states...
November 2015: Molecular Genetics and Metabolism
Gurjit Kaur, Kiran Thakur, Sandeep Kataria, Teg Rabab Singh, Bir Singh Chavan, Gurpreet Kaur, Rajiv Atwal
BACKGROUND: Newborn screening comprises a paramount public health program seeking timely detection, diagnosis, and intervention for genetic disorders that may otherwise produce serious clinical consequences. Today newborn screening is part of the health care system of developed countries, whereas in India, newborn screening is still in the toddler stage. METHOD: We searched PubMed with the keywords newborn screening for metabolic disorders, newborn screening in India, and congenital disorder in neonates, and selected publications that seem appropriate...
January 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
Stéphanie Larrivée-Vanier, Fabien Magne, Natalie Patey, Jean-Pierre Chanoine, Jean-Marc Vuissoz, Guy Van Vliet, Johnny Deladoëy
BACKGROUND: In humans, the cause of arrested migration of the median thyroid anlage resulting in an ectopic sublingual gland is unknown. These ectopic glands have a normal follicular architecture but their thyrotropin-induced growth is insufficient, leading to congenital hypothyroidism in the vast majority of affected subjects. We hypothesized that arrested migration is due to premature differentiation [reflected by decreased telomere length (TL)], as observed in neural tube defects in mice...
September 2015: Thyroid: Official Journal of the American Thyroid Association
Theodora Pappa, Jesper Johannesen, Neal Scherberg, Maricel Torrent, Alexandra Dumitrescu, Samuel Refetoff
BACKGROUND: Thyrotropin (TSH) deficiency caused by TSHβ gene mutations is a rare form of congenital central hypothyroidism. Nine different TSHβ gene mutations have been reported, all with clinical manifestations. The aim was to identify the genetic cause of undetectable TSH levels in two siblings with clinical euthyroidism. METHODS: Two brothers born to consanguineous Pakistani parents presented with undetectable serum TSH but normal iodothyronine concentrations and no clinical signs of hypothyroidism...
August 2015: Thyroid: Official Journal of the American Thyroid Association
Caroline Chua, Shilpa Gurnurkar, Yahdira Rodriguez-Prado, Victoria Niklas
Congenital hypothyroidism (CH) is the most common endocrine disorder affecting the newborn. Universal newborn screening (NBS) has virtually eliminated the static encephalopathy and devastating neurodevelopmental syndrome known as cretinism. This report describes the presentation of an infant referred by the primary pediatrician to our hospital at 12 days of age for confirmatory testing after the NBS was consistent with CH. The infant had hypoglycemia secondary to lethargy and poor feeding and required transfer to the neonatal intensive care unit for worsening abdominal distension despite normalization of serum thyroid function tests following hormone replacement...
2015: Case Reports in Pediatrics
Pauline Romanet, Lindsay Osei, Irène Netchine, Morgane Pertuit, Alain Enjalbert, Rachel Reynaud, Anne Barlier
Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A includes multihormone resistance syndrome, Albright's hereditary osteodystrophy, and obesity and is caused by mutations in GNAS exon 1 through 13. PHP type 1B (PHP1B), caused by epigenetic changes in the GNAS locus, was initially described as an isolated resistance to PTH. Epigenetic changes in GNAS have also been reported in patients who display mild Albright's hereditary osteodystrophy or mild thyroid-stimulating hormone (TSH) resistance without mutation of GNAS...
April 2015: Pediatrics
V Anastasovska, R Koviloska, M Kocova
Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation in children. Diagnosis is difficult at birth without neonatal screening. Neonatal thyroid screening was established in Prilep, Republic of Macedonia as an integral part of the nationwide screening program. To estimate the prevalence of CH in this region, neonatal thyroid screening was performed on 9757 newborns, during the period 2002-2011. The DELFIA method was applied to measure the thyroid-stimulating hormone (TSH) concentration in dried blood spot samples on standard filter paper taken 48 hours after birth by heel-stick...
June 2014: Balkan Journal of Medical Genetics: BJMG
Chee Kin Lim, Chantal T Rosa, Yolanda de Witt, Johan P Schoeman
A 3-month-old male domestic short-hair kitten was presented with chronic constipation and disproportionate dwarfism. Radiographs of the long bones and spine revealed delayed epiphyseal ossification and epiphyseal dysgenesis. Diagnosis of congenital primary hypothyroidism was confirmed by low serum total thyroxine and high thyroid stimulating hormone concentrations. Appropriate supplementation of levothyroxine was instituted. The kitten subsequently developed mild renal azotaemia and renal proteinuria, possibly as a consequence of treatment or an unmasked congenital renal developmental abnormality...
2014: Journal of the South African Veterinary Association
Cintia E Citterio, Cecilia M Morales, Natacha Bouhours-Nouet, Gloria A Machiavelli, Elena Bueno, Frédérique Gatelais, Regis Coutant, Rogelio González-Sarmiento, Carina M Rivolta, Héctor M Targovnik
Several patients were identified with dyshormonogenesis caused by mutations in the thyroglobulin (TG) gene. These defects are inherited in an autosomal recessive manner and affected individuals are either homozygous or compound heterozygous for the mutations. The aim of the present study was to identify new TG mutations in a patient of Vietnamese origin affected by congenital hypothyroidism, goiter and low levels of serum TG. DNA sequencing identified the presence of compound heterozygous mutations in the TG gene: the maternal mutation consists of a novel c...
March 15, 2015: Molecular and Cellular Endocrinology
Ewa Głąb, Ewa Barg, Beata Wikiera, Jolanta Bieniasz
Congenital hypoplastic anemia (Diamond-Blakcfan syndrom) is a genetically determined disorder which is manifested in early childhood with selective deficiency of erythrocyte line in bone marrow. Severe anemia usually appears in the first six months of life. Survival depends on blood transfusions, which in consequence lead to hemochromatosis. The most common complications of transfusional hemochromatosis are hepatic cirrhosis, hypopituitarism, hypogonadism, diabetes mellitus, other endocrinopathies, and cardiomyopathy...
2013: Pediatric Endocrinology, Diabetes, and Metabolism
Deqiong Ma, Robert Marion, Netra Prasad Punjabi, Elaine Pereira, Joy Samanich, Chhavi Agarwal, Jianli Li, Chih-Kang Huang, K H Ramesh, Linda A Cannizzaro, Rizwan Naeem
Reports of interstitial deletions involving proximal long arm of chromosome 2 are limited. Based on early chromosomal analysis studies, the phenotypic consequence of deletions at the ancestral chromosome fusion site at chromosome 2q13q14.1 remains unclear. A recurrent 1.71 Mb deletion at 2q13 has recently been proposed as a new genomic disorder, associated with an increased risk of intellectual disability and craniofacial dysmorphism. Herein, we report the case of a 12 year-old girl with unique clinical features including global developmental delay, mullerian agenesis, and hypothyroidism associated with a normal size and position of the thyroid gland, as well as negative thyroid antibodies...
2014: Molecular Cytogenetics
E O'Hare, E-M Kim, D Page, R Reid
The timing of thyroxine (T4) replacement treatment in congenital hypothyroidism (CH) has been suggested to be important for optimizing cognitive recovery in humans; however this has not been fully established using modern animal models of CH. Consequently, the current studies investigated the ameliorating effects of postnatal T4 treatment on neuropathology and behavior in CH rats. Rat dams were administered methimazole to produce CH offspring, then brain tissue from male CH pups was analyzed to determine the effects of postnatal (P3, P7, P14 and P21) T4 treatment on hippocampal dendritic branching and the expression of nerve growth factor (NGF)...
January 29, 2015: Neuroscience
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