A Case of Congenital Chylous Ascites and Hypothyroidism: Coincidence or Association?
Boğaziçi Tıp Dergisi, 2020 Congenital chylous ascites (CA) is the rare accumulation of chyle in the peritoneal cavity, often occurring in infants under three months of age.
Özgül Bulut +2 more
doaj +1 more source
The Turkish Journal of Pediatrics, 1998 This study was carried out to determine the frequency of congenital heart defects, cholelithiasis, hypothyroidism and leukemia in 31 children with Down syndrome. Twenty children (71.4%) had congenital heart defects.
F M Aynaci +3 more
doaj
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism.
JCI Insight, 2018 Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show that goitrous hypothyroidism ...
Cangul H +26 more
semanticscholar +1 more source
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism
PLoS ONE, 2018 Objective Results of the screening of disease causative mutations in congenital hypothyroidism (CH) vary significantly, depending on the sequence strategy, patients’ inclusion criteria and bioinformatics. The objective was to study the molecular basis of
N. Makretskaya +9 more
semanticscholar +1 more source
Newborn Screening and Molecular Profile of Congenital Hypothyroidism in a Chinese Population
Frontiers in Genetics, 2018 To review the characteristics of newborn screening of congenital hypothyroidism (CH), we reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating hormone (TSH), and serum TSH and free thyroxine (FT4), of all newborn ...
Bin Yu +6 more
semanticscholar +1 more source
Permanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables
Journal of Clinical Endocrinology and Metabolism, 2018 Objective To assess clinical variables, including early thyroid scintigraphy, in predicting the outcome (permanent vs transient) in term infants with congenital hypothyroidism (CH).
T. Oron +7 more
semanticscholar +1 more source
Predictive factors of permanent versus transient congenital hypothyroidism: a pragmatic cohort study [PDF]
Annals of Pediatric Endocrinology & MetabolismPurpose To identify clinical predictors of permanent congenital hypothyroidism (PCH) and transient congenital hypothyroidism (TCH). Methods This retrospective cohort study enrolled neonates with risk factors for congenital hypothyroidism as diagnosed by ...
Niki Dermitzaki +7 more
doaj +1 more source
Predictors of transient congenital hypothyroidism in children with eutopic thyroid gland
Annals of Pediatric Endocrinology & Metabolism, 2017 Purpose Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation. Recently, the detection of CH cases with eutopic thyroid gland has increased due to neonatal screening programs.
I. S. Park +4 more
semanticscholar +1 more source
A 10‐year prevalence of congenital hypothyroidism in Khorramabad (Urban Western Iran)
Molecular Genetics & Genomic Medicine, 2019 Background Congenital hypothyroidism in infants is the cause of mental retardation in children, it can be detected in patient and treated at a relatively cheap rate, preventing patient retard.
Nadereh Taee +3 more
doaj +1 more source
Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism
Journal of Clinical Endocrinology and Metabolism, 2017 Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase‐catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis.
Z. Aycan +7 more
semanticscholar +1 more source