Results 31 to 40 of about 926,075 (161)
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
core +1 more source
Permanent vs Transient Congenital Hypothyroidism: Assessment of Predictive Variables [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2018 To assess clinical variables, including early thyroid scintigraphy, in predicting the outcome (permanent vs transient) in term infants with congenital hypothyroidism (CH).In a retrospective study, 142 full-term infants with CH diagnosed between 2000 and 2012 were categorized into three groups: agenesis/ectopic thyroid and permanent CH; eutopic thyroid ...
Tal Oron +7 more
openaire +2 more sources
Permanent and Transient Congenital Hypothyroidism in Hamadan West Province of Iran [PDF]
International Journal of Endocrinology and Metabolism, 2016 Primary congenital hypothyroidism (CH) is the most common treatable cause of mental retardation and can be classified into permanent and transient types. The purpose of this study was to determine the prevalence of permanent and transient congenital hypothyroidism (CH) in Hamadan, West province of Iran.The study population included all cases with ...
Razavi, Zahra, Mohammadi, Lida
openaire +2 more sources
, 2015 PURPOSE: Although a nation-wide salt iodization program on voluntary basis was implemented in 2005, many areas in our country are still characterized by mild iodine deficiency.
Olivieri, A +4 more
core +2 more sources
Congenital hypothyroidism: insights into pathogenesis and treatment [PDF]
, 2017 Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have devastating neurodevelopmental consequences if not detected and treated promptly.
Christine E. Cherella +8 more
core +1 more source
TRANSIENT AND PERMANENT CONGENITAL HYPOTHYROIDISM AND MATERNAL ATROPHIC THYROIDITIS [PDF]
Pediatric Research, 1986 Cases of familial transient hypothyroidism born to mothers with atrophic thyroiditis have been described, although a regular coincidence of neonatal hypothyroidism and maternal thyroid antibodies(AB) has been disproved by a systematic study in newborns.
M Klett +3 more
openaire +1 more source
Orphanet Journal of Rare Diseases, 2021 Introduction The clinical complications of congenital hypothyroidism such as brain disorders are very subtle and are not recognizable in infancy period. They are recognizable when it is too late for treatment or prevention.
Javad Nazari +8 more
doaj +1 more source
Novel mutations of the thyroid peroxidase gene in patients with permanent congenital hypothyroidism [PDF]
European Journal of Endocrinology, 2001 OBJECTIVE: It is suggested that iodide organification defects account for 10% of all cases with congenital hypothyroidism (CH). One candidate gene for these defects is the thyroid peroxidase (TPO) gene. DESIGN: Exons 2, 8-10 and 14 of the TPO gene were examined in 30 patients with permanent CH without a family history of CH.
P, Ambrugger +5 more
openaire +2 more sources
, 2023 This study aimed to determine the incidence of congenital hypothyroidism in Turkey’s Diyarbakir Province and assess the development and growth conditions of people with congenital hypothyroidism.
Erdem, Özgür +3 more
core +1 more source
Congenital goitre and respiratory distress as rare presenting features of congenital hypothyroidism in the newborns [PDF]
, 2022 In babies with congenital hypothyroidism, congenital goiter and respiratory distress (due to upper airway compression/hypothyroidism) are rarely encountered as the first presenting signs.
Makki, Khalid A.
core +1 more source