Congenital goitrous hypothyroidism, deafness and iodide organification defect in four siblings: Pendred or pseudo-pendred syndrome?

JCRPE Journal of Clinical Research in Pediatric Endocrinology

Volumn 2, Issue 2, 2010, Pages 81-84

  Kara, Cengiz ^a   Kiliç, Mehtap ^a   Uçaktürk, Ahmet ^a   Aydin, Murat ^a  

^a ONDOKUZ MAYIS UNIVERSITY   (Turkey)

Author keywords

Congenital hypothyroidism; Pendred syndrome; Pseudo pendred syndrome; Thyroid peroxidase defect

Indexed keywords

LEVOTHYROXINE; PERCHLORATE; THYROTROPIN; THYROXINE;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CONGENITAL HYPOTHYROIDISM; ECHOGRAPHY; FEMALE; GOITER; GROWTH RETARDATION; HORMONE SUBSTITUTION; HUMAN; INNER EAR MALFORMATION; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PENDRED SYNDROME; PERCEPTION DEAFNESS; SCHOOL CHILD; SHORT STATURE; SIBLING; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CONGENITAL HYPOTHYROIDISM; DEAFNESS; FEMALE; GOITER; GOITER, NODULAR; HEARING LOSS, SENSORINEURAL; HUMANS; IODIDE PEROXIDASE; IODIDES; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; SIBLINGS; SYNDROME;

EID: 77954788720     PISSN: 13085727     EISSN: 13085735     Source Type: Journal    
DOI: 10.4274/jcrpe.v2i2.81     Document Type: Article

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