Congenital hypothyroidism in pediatric practice [PDF]
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
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Congenital Anomalies in Infant with Congenital Hypothyroidism [PDF]
Oman Medical Journal, 2012 bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies
Zahra Razavi +2 more
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Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants [PDF]
, 2023 Congenital hypothyroidism (CH) is a common heterogeneous endocrine disorder. The thyroid-stimulating hormone receptor gene (TSHR) is one of the major candidate genes associated with CH.
Mitsui, Yumiko +3 more
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A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 Gene [PDF]
, 2021 Loss-of-function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause X-linked central hypothyroidism, and therefore its mutation affects mainly males.
Nadide Cemre Randa +2 more
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Growth and Neurodevelopmental Outcomes of Children With Congenital Hypothyroidism Identified Through Dried Blood Spot Newborn Screening at a Tertiary Care Hospital in Pakistan. [PDF]
Endocrinol Diabetes MetabHospital‐based dried blood spot newborn screening enabled early diagnosis and timely levothyroxine treatment of congenital hypothyroidism, resulting in preserved growth and normal neurodevelopment in most children. These findings support expansion of newborn screening programs in Pakistan.
Rehman B +11 more
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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 +4 more
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Newborn Screening for Congenital Hypothyroidism and Congenital Adrenal Hyperplasia in Egypt [PDF]
Annals of Neonatology Journal, 2023 Two disorders, congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH), when untreated, can lead to devastating, irreversible and fatal outcomes.
Noura El-Bakry
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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 +4 more
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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 +2 more
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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 +4 more
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