Results 111 to 120 of about 926,075 (161)

Clinical and genetic insights into congenital hypothyroidism with gland-in-situ

Trends in Pediatrics
Objective: This study aimed to investigate the genetic etiology of congenital hypothyroidism (CH) with gland-in-situ (GIS) by screening 23 candidate genes using next-generation sequencing (NGS) in a cohort of Turkish patients.
Fatma Dursun, Metin Eser, Murat Hakkı Yarar, Irmak Dicle Sargın, Ayşe Yaşar, Esma Ebru Altun, Fatma Güliz Atmaca, Şerife Ece Ulu, Heves Kırmızıbekmez   +8 more
doaj   +1 more source

Prevalence of Concurrent Congenital Disabilities in Infants With Congenital Hypothyroidism: A Systematic Review [PDF]

Journal of Pediatrics Review
Background: Congenital hypothyroidism (CH) is one of the most prevalent endocrine disorders in children. According to the literature, there is a high prevalence of other anomalies and syndromes in infants diagnosed with CH.
Mahin Hashemipour, Jila Yousofi, Rojin Chegini, Silva Hovsepian   +3 more
doaj  

Genotype–phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism

Journal of the Endocrine Society
Abstract Context Congenital hypothyroidism (CH) due to DUOX2 mutations shows marked clinical heterogeneity. While some patients recover thyroid function during early childhood, others require long-term levothyroxine (LT4) therapy. The determinants of this variability remain unclear.
Sheng-Bin Liang, Chih-Ya Cheng, Yun-Ru Chen, Yann-Jang Chen, Chia-Feng Yang, Yung-Hsiu Lu, Dau-Ming Niu   +6 more
openaire   +2 more sources

Congenital Hypothyroidism Associated with Maternal Hypothyroidism and Iodine Deficiency During Pregnancy [PDF]

, 2017
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.
Smita Kargutkar-Ajgaonkar
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50 YEARS OF NEWBORN SCREENING FOR CONGENITAL HYPOTHYROIDISM: EVOLUTION OF INSIGHTS IN ETIOLOGY, DIAGNOSIS AND MANAGEMENT: Transient or permanent congenital hypothyroidism: from milestones to current and future perspectives

European Thyroid Journal
Primary congenital hypothyroidism (CH) is the most common endocrinopathy of developmental age. In recent years, several studies from different countries have reported a significant increase in CH incidence detected by newborn screening programs ...
Gaia Vincenzi, Ilenia Teresa Petralia, Marco Abbate, Maria Cristina Vigone   +3 more
doaj   +1 more source

Congenital nystagmus and central hypothyroidism

, 2015
We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1.
Reynaert, Nele, de Zegher, Francis, Braat, Elke   +2 more
core   +1 more source

Permanent congenital hypothyroidism [PDF]

, 2020
openaire   +1 more source

Prevalence of permanent and transient congenital hypothyroidism in Babol City -Iran.

Medicinski glasnik : official publication of the Medical Association of Zenica-Doboj Canton, Bosnia and Herzegovina, 2012
To determine the incidence of transient and permanent hypothyroidism in Babol, Iran.The cross sectional study on 10,573 newborns who participated in a thyroid screening program in Babol between 2006 and 2008 was performed. It recalled patients who had been diagnosed in the initial screening program and treated for at least 3 years, discontinued their ...
Mohsen, Haghshenas, Yadollah, Zahed Pasha, Mousa, Ahmadpour-Kacho, Shokrollah, Ghazanfari   +3 more
openaire   +1 more source

A Systematic Review on the Risk Factors of Congenital Hypothyroidism

Journal of Pediatrics Review, 2019
Context: Congenital Hypothyroidism (CH) is the most common endocrine disorder and causes of preventable mental retardation in children. Objective: We aimed to review the reported CH-related risk factors systematically.
Mahin Hashemipour, Payam Samei, Roya Kelishadi, Silva Hovsepian, Neda Hani Tabaei Zavareh   +4 more
doaj  

Audiological assessments in congenital hypothyroidism

, 1996
The Authors studied the presence of audiological assessments in congenital hypothyroidism. We carried out own study on 30 patients, affected by congenital hypothyroidism, and we performed tonal audiometry and tympanometry in each.
Viscuso T., Grasso D., Berretta M., Maiolino L., Serra A.   +4 more
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