Results 21 to 30 of about 630,874 (291)

Etiological Evaluation of Congenital Hypothyroidism Cases

Journal of Behçet Uz Children's Hospital, 2020
INTRODUCTION: The aim of this study was to determine, (i) the cause of congenital hypothyroidism (permanent or transient), (ii) the etiological cause of persistent congenital hypothyroidism and (iii) to investigate the role of clinical and laboratory ...
Ayşe Anık, İlkay Bahar Balaban Berber, Tolga Ünüvar, Ahmet Anık   +3 more
doaj   +1 more source

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 and Brain Development: Association With Other Psychiatric Disorders

Frontiers in Neuroscience, 2021
Thyroid hormones play an important role in brain development, and thyroid hormone insufficiency during the perinatal period results in severe developmental delays.
K. Uchida, Mao Suzuki
semanticscholar   +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

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

Targeted next-generation sequencing for congenital hypothyroidism with positive neonatal TSH screening.

Journal of Clinical Endocrinology and Metabolism, 2020
PURPOSE Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, however, its molecular etiology remains poorly understood. METHODS We performed genetic analysis of 24 causative genes using next-generation sequencing in 167 CH ...
Takeshi Yamaguchi, A. Nakamura, Kanako Nakayama, Nozomi Hishimura, S. Morikawa, K. Ishizu, T. Tajima   +6 more
semanticscholar   +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

Turner syndrome and associated problems in turkish children: A multicenter study [PDF]

, 2015
Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A., Abalı, S., Adal, E., Akın, L., Akıncı, A., Akyürek, N., Andıran, N., Anık, A., Atabek, M.E., Ataş, A., Aydın, B.K., Açıkel, C., Baş, F., Baş, S., Baş, V.N., Bereket, A., Binay, Ç., Bolu, S., Bondy, C., Bulan, K., Büyükinan, M., Can, H.D., Cinaz, P., Darcan, Ş., Darendeliler, F., Demir, K., Demirbilek, H., Demirel, F., Doğan, D., Doğan, M., Döneray, H., Dündar, B., Eklioğlu, B.S., Emeksiz, H.C., Ercan, O., Eren, E., Ersoy, B., Evliyaoğlu, O., Fidancı, K., Gökşen, D., Gül, D., Gürbüz, F., Hatun, Ş., Kaba, S., Kara, C., Karagüzel, G., Keskin, M., Kızılay, D., Orbak, Z., Pirgon, Ö., Polat, A., Poyrazoğlu, Ş., Sarı, E., Sağlam, H., Tarım, Ö., Tepe, D., Topaloğlu, A.K., Turan, S., Yeşilkaya, E., Yüksel, B., Çakır, E.D., Çatlı, G., Çelik, N., Çizmecioğlu, F., Ökten, A., Önal, H., Özbek, M.N., Özen, S., Özgen, T., Özhan, Bayram, Özkan, B., Ünüvar, T., Şen, Y., Şimşek, E.   +73 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