Results 151 to 160 of about 679,172 (179)

Clinical and genetic investigation in patients with permanent congenital hypothyroidism

Clinica Chimica Acta, 2023
Permanent congenital hypothyroidism (CH) is usually a more severe type of CH. However, the molecular etiology and clinical features of permanent CH remain unclear.We recruited 42 patients who were diagnosed with CH and followed-up after diagnosis. Demographic information and data at diagnosis and treatment were recorded. Genetic analyses were performed
Wei Long, Lingna Zhou
exaly   +3 more sources

High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism

Journal of Pediatric Endocrinology and Metabolism, 2016
AbstractDual oxidase 2 (Forty-eight Japanese DH patients were enroled and analysed for sequence variants ofFourteen sequence variants ofOur results suggest ...
Shigeru Suzuki, Yusuke Tanahashi, Kumihiro Matsuo   +2 more
exaly   +3 more sources

Comparison of developmental outcomes in children with permanent and transient congenital hypothyroidism

Journal of Pediatric Endocrinology and Metabolism, 2023
Abstract Objectives Congenital hypothyroidism (CH) is still one of the most common causes of preventable cognitive impairment in children, and its early detection and treatment prevent irreversible neurodevelopmental delay. Depending on the underlying cause, cases with CH may be transient or permanent.
Mehmet Akif Buyukavci, Ismail Dundar
exaly   +3 more sources

Permanent and transient congenital hypothyroidism in Isfahan–Iran [PDF]

Journal of Medical Screening, 2009
Objectives To determine the prevalence of permanent and transient congenital hypothyroidism (CH) in Isfahan, Iran. Methods In 256 primarily diagnosed CH patients identified through the neonatal screening programme from May 2002 to February 2005, treatment was discontinued for 4 weeks and T4 and thyroid stimulating hormone (TSH) were measured. Permanent
Roya Kelishadi, Ramin Iranpour, Mahin Hashemipour   +2 more
exaly   +3 more sources

Permanent or Transient Congenital Hypothyroidism: A Diagnostic Dilemma

Acta Paediatrica, International Journal of Paediatrics
ABSTRACT Aim Distinguishing between transient congenital hypothyroidism (TCH) and permanent congenital hypothyroidism (PCH) remains clinically challenging and is typically deferred until the age of 2–3 years, to minimise the potential risk of adverse neurodevelopmental effects due to treatment ...
Anastasios Serbis, Foteini Balomenou, Vasileios Giapros   +2 more
exaly   +3 more sources

Congenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism

Journal of Pediatric Endocrinology and Metabolism, 2023
Abstract Objectives More than one third of children with congenital hypothyroidism (CH) and thyroid gland in situ (or eutopic gland) have transient hypothyroidism. It remains difficult to determine early on whether hypothyroidism will be transient which may cause overtreatment and its complications in
Rosa-Maria Gueant-Rodriguez, Sylvie Bontemps   +1 more
exaly   +3 more sources

Permanent and transient congenital hypothyroidism in preterm infants

Acta Paediatrica, 2011
AbstractAim:  Transient fluctuations in thyroid function are well recognized in preterm infants. We wanted to assess TSH variation in babies with transient and permanent congenital hypothyroidism (CHT).Methods:  Whole bloodspot TSH data in preterm infants (<35 weeks; 2005–2010) were assessed, and infants with bloodspot TSH values >6 mU/L ...
Srinivasan R, Harigopal S, Turner S, Cheetham T   +3 more
openaire   +3 more sources