Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and “Apparent” Thyroid Dysgenesis
نویسندگان
چکیده
منابع مشابه
Congenital and Juvenile Hypothyroidism Due to Thyroid Dysgenesis.
Following the initial description of an ectopic thyroid by Verneuil, ( 1 ) it remained only as an anatomical curiosity for many years. Hunt ( 2 ) described dysphagia and obstruction of the upper larynx caused by a lingual thyroid and suggested the clinical importance of this entity. Mont gomery ( 3 ) has reviewed most of the reported cases, and observed that surgi cal ablation of the ectopic ti...
متن کاملDistinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss.
Mutations of the human SLC26A4/PDS gene constitute the most common cause of syndromic and nonsyndromic hearing loss. Definition of the SLC26A4 mutation spectrum among different populations with sensorineural hearing loss is important for development of optimal genetic screening services for congenital hearing impairment. We screened for SLC26A4 mutations among Chinese and U.S. subjects with hea...
متن کاملMutation screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
OBJECTIVE Pendred syndrome (PS) is an autosomal recessive disorder characterised by sensorineural hearing loss and thyroid dyshormonogenesis. It is caused by biallelic mutations in the SLC26A4 gene encoding for pendrin. Hypothyroidism in PS can be present from birth and therefore diagnosed by neonatal screening. The aim of this study was to examine the SLC26A4 mutation spectrum and prevalence a...
متن کاملMutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis.
OBJECTIVE Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. SUBJECTS AND METHODS The patients were classified in two group...
متن کاملCongenital Hypothyroidism and Thyroid Cancer
Congenital hypothyroidism (CH) is a condition of thyroid hormone deficiency present at birth and can result in severe neurodevelopmental impairment, growth failure and permanent mental retardation if treatment is delayed for several months after birth (1-3). Girls are more frequently affected than boys (female to male ratios ranging from 2:1 to 4:1)(4). The mental retardation and neurodevelopme...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2014
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2013-2619