Results 11 to 20 of about 44,026 (275)

Congenital hypothyroidism: a case report of an Egyptian child with congenital heart disease, pelvic kidney and cavernous transformation of portal vein

Egyptian Journal of Medical Human Genetics, 2023
Background A case of thyroid hormone deficiency which presented at birth. Thyroid hormones are essential for brain development and normal cognitive function.
Heba Elsedfy, Radwa Gamal
doaj   +1 more source

Congenital Hypothyroidism among Infants Undergoing Thyroid Function Test in a Tertiary Care Centre: A Descriptive Cross-sectional Study

Journal of Nepal Medical Association, 2022
Introduction: Congenital hypothyroidism is the most preventable and treatable cause of mental retardation in newborns and infants. Screening for congenital hypothyroidism in newborns and infants is not a routine practice in our part of the world.
Bijaya Mishra, Nisha Keshary Bhatta, Mohan Chandra Regmi, Binod Kumar Lal Das, Seraj Ahmed Khan, Basanta Gelal, Apeksha Niraula, Madhab Lamsal   +7 more
doaj   +1 more source

Information Registry System on Congenital Hypothyroidism: A Systematic Review

Journal of Pediatrics Review, 2021
Background: Congenital hypothyroidism is the most common congenital disorder of the endocrine system, leading to preventable mental retardation. Objectives: We aimed to evaluate the current status of congenital hypothyroidism information registry ...
Morteza Ghasempour, Hamideh Ehtesham, Noushin Rostampour, Shahram Tahmasbian, Leila Shahmoradi   +4 more
doaj   +1 more source

Novel associations for hypothyroidism include known autoimmune risk loci [PDF]

, 2011
Hypothyroidism is the most common thyroid disorder, affecting about 5% of the general population. Here we present the first large genome-wide association study of hypothyroidism, in 2,564 cases and 24,448 controls from the customer base of 23andMe, Inc.,
A Alcina, A Bender, A Petrone, A Teumer, A Zhernakova, AA Zeitlin, Amr H. Sawalha, Amy K. Kiefer, C Cotsapas, C Newton-Cheh, CB Do, Chuong B. Do, D Falush, D Smyth, David A. Hinds, F Menconi, G Lettre, H Donner, H Fraser, H Hakonarson, H Ikegami, I Landa, J Gudmundsson, J Lowe, JA Todd, JC Barrett, JC Denny, JE Wigginton, JH Cho, Joanna L. Mountain, Joyce Y. Tung, K Fujikawa, L Arnaud-Lopez, L Criswell, M Castanet, M Hayashi, M Sirota, M Velaga, MJ Coenen, MJ Simmonds, N Eriksson, N Movilla, N Tandon, Nicholas Eriksson, P Burton, P Chen, P Gourh, P Gregersen, P Newby, RC Betz, RJ Pruim, SM Park, TJ Giordano, Uta Francke, V Panicker, X Chu, Y Tomer, YH Lee   +57 more
core   +8 more sources

A 7-year study on the prevalence of congenital hypothyroidism in northern Iran

Electronic Physician, 2018
Background: Congenital hypothyroidism (CH) is one of the most common congenital endocrine disorders. The present study determined the prevalence and demographic characteristics of congenital hypothyroidism in the north of Iran. Objective: To determine
Zahra Beheshti, Rozita Rezaei, Abbas Alipour, Mehrnoosh Kosarian, Sussan Saatsaz   +4 more
doaj   +1 more source

Trends in Scottish newborn screening programme for congenital hypothyroidism 1980-2014: strategies for reducing age at notification after initial and repeat sampling [PDF]

, 2017
Objectives: To determine ages at first capillary sampling and notification and age at notification after second sampling in Scottish newborns referred with elevated thyroid-stimulating hormone (TSH).
Donaldson, Malcolm, Fitch, Moira, Jones, Jeremy, Mansour, Chourouk, Mason, Avril, Ouarezki, Yasmine, Smith, Sarah   +6 more
core   +1 more source

The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR [PDF]

, 2019
1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the β-subunit of thyrotropin (TSHB).
Biebermann, Heike, Grüters-Kieslich, Annette, Kalveram, Laura, Kleinau, Gunnar, Rivero-Müller, Adolfo, Scheerer, Patrick, Szymańska, Kamila   +6 more
core   +1 more source

Congenital hypothyroidism in pediatric practice

Медицинский совет, 2016
We present observation of two patients with congenital hypothyroidism. Importance of neonatal screening for congenital hypothyroidism is demonstrated.The main principles of diagnostics, therapy and dispensary supervision, role of pediatricians in ...
A. V. Vitebskaya, T. V. Igamberdieva
doaj   +1 more source

A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome [PDF]

, 2014
<b>Background:</b> Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.<p></p> ...
Donaldson, Malcolm, Hermanns, Pia, Jones, Jez, Mansor, Mohamed, Pohlenz, Joachim, Schulga, John, Shepherd, Scott   +6 more
core   +1 more source

Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening [PDF]

, 2006
Contains fulltext : 35756.pdf (publisher's version ) (Open Access)CONTEXT: Long-term follow-up data on cognitive and motor functioning in adult patients with congenital hypothyroidism, diagnosed by neonatal screening, are scarce. Hence,
Faber, I., Grootenhuis, M.A., Kempers, M.J., Kooistra, L., Last, B.F., Nijhuis-van der Sanden, M.W., Sluijs Veer, L. van der, Vijlder, J.J. de, Vulsma, T., Wiedijk, .M.   +9 more
core   +2 more sources