Results 31 to 40 of about 615,625 (251)

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

Analysis of Worldwide Carrier Frequency and Predicted Genetic Prevalence of Autosomal Recessive Congenital Hypothyroidism Based on a General Population Database

Genes, 2021
To assess how genomic information of the general population reflects probabilities of developing diseases and the differences in those probabilities among ethnic groups, a general population database was analyzed with an example of congenital ...
K. Park
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

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

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

The Importance of Examining Congenital Hypothyroidism in Connection with Congenital Heart Disease: Letter to Editor [PDF]

Iranian Journal of Neonatology, 2019
Dear Editor-in-Chief: I read and enjoyed your stylish article, "Frequency of Congenital Cardiac Malformations in Neonates with Congenital Hypothyroidism", in relation to heart disease with hypothyroidism.
Forod Salehi, Atefe Ziaee, Arvin Mirshahi   +2 more
doaj   +1 more source

An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2020
Alport syndrome (AS) is a rare genetic disorder that causes progressive nephritis and is more common among males. Studies have reported an association between thyroid antibodies and hypothyroidism in patients with AS, but the relevance of this ...
Su-Jeong Lee, Jung-Eun Moon, Gi-Min Lee, Min-Hyun Cho, Cheol Woo Ko   +4 more
doaj   +1 more source

Congenital hypothyroidism

Thyroid and Parathyroid Disorders in Children, 2018
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck.
Gail Mick
semanticscholar   +2 more sources

Congenital Hypothyroidism: Incidence, Etiology and Laboratory Screening

INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY, 2020
Congenital hypothyroidism is a condition resulting from a deficiency of thyroid hormone in newborns. Congenital hypothyroidism has no specific signs and symptoms at birth.
L. B. Kurniawan
semanticscholar   +1 more source