Case Report: Neck Swelling and Hearing Loss in a 12 Year Old Girl in Basrah, Iraq: The Diagnosis of Pseudo-Pendred Syndrome is Established

نویسندگان

چکیده

Background: Pseudo-Pendred syndrome (PPS) is a genetic disorder inherited as an autosomal recessive disorder. PPS characterized by the presence of hypothyroid goiter combined with mild to moderate form SNHL, not presentable at birth, no obvious inner ear malformation. This major difference from Pendred in which SNHL congenital, severe profound nature, and associated malformation, mostly enlarged vestibular aqueduct. The main etiology thought be formation autoantibodies against thyroid tissue cochlea.
 Case report: Our reported case 12-year-old girl who presented goiter, hypothyroidism, hearing loss. Examination hormonal radiological investigations confirmed goiter. result antibody test was positive (TPO = 174 IU\mL). Audiological assessment CT scan temporal bone malformations. patient received treatment supplement aid. On side note, there are other affected siblings her family.
 Conclusion: congenital condition normal structures. Despite fact that analysis had been done confirm diagnosis PPS, all clinical, hormonal, immunological, audiological, assessments indicate our case. Furthermore, cause loss autoimmune etiology.

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ژورنال

عنوان ژورنال: Iraqi national journal of medicine

سال: 2022

ISSN: ['2664-7516', '2664-7524']

DOI: https://doi.org/10.37319/iqnjm.4.1.2