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

Haider K Saeed, Mohammed Al-Hamadani
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Abstract

Background: Pseudo-Pendred syndrome (PPS) is a genetic disorder inherited as an autosomal recessive disorder. PPS is characterized by the presence of hypothyroid goiter combined with mild to moderate form of SNHL, not presentable at birth, with no obvious inner ear malformation. This is the major difference from Pendred syndrome in which the SNHL is congenital, severe to profound in nature, and associated with inner ear malformation, mostly enlarged vestibular aqueduct. The main etiology of PPS is thought to be formation of autoantibodies against the thyroid tissue and the cochlea. Case report: Our reported case is a 12-year-old girl who presented goiter, hypothyroidism, and hearing loss. Examination and hormonal and radiological investigations confirmed the hypothyroid goiter. The result of the thyroid antibody test was positive (TPO test = 174 IU\mL). Audiological assessment and the CT scan of the temporal bone confirmed mild SNHL with no inner ear malformations. The patient received treatment in the form of thyroid supplement and hearing aid. On a side note, there are no other affected siblings in her family. Conclusion: The Pseudo-Pendred syndrome is a congenital condition characterized by the presence of hypothyroid goiter with mild SNHL and normal inner ear structures. Despite the fact that no genetic analysis had been done to confirm the diagnosis of PPS, all the clinical, hormonal, immunological, audiological, and radiological assessments indicate PPS in our case. Furthermore, the main cause of the goiter and hearing loss is thought to be of autoimmune etiology.  
病例报告:伊拉克巴士拉一名12岁女孩颈部肿胀和听力丧失:假性耳垂综合征的诊断得以确立
背景:伪pendred综合征(PPS)是一种常染色体隐性遗传病。PPS的特点是甲状腺功能减退,合并轻度至中度SNHL,出生时不明显,没有明显的内耳畸形。这是与Pendred综合征的主要区别,后者是先天性SNHL,性质从严重到深度,并伴有内耳畸形,主要是前庭导水管扩大。PPS的主要病因被认为是形成针对甲状腺组织和耳蜗的自身抗体。病例报告:我们报告的病例是一个12岁的女孩,她表现为甲状腺肿大,甲状腺功能减退和听力损失。检查和激素和放射检查证实甲状腺功能减退。甲状腺抗体试验结果为阳性(TPO试验= 174 IU\mL)。听力学评估和颞骨CT扫描证实轻度SNHL,无内耳畸形。患者接受了甲状腺补充剂和助听器的治疗。顺便说一句,她家里没有其他患病的兄弟姐妹。结论:伪pendred综合征是一种先天性疾病,以甲状腺功能减退伴轻度SNHL和正常内耳结构为特征。尽管没有遗传学分析来证实PPS的诊断,但所有的临床、激素、免疫学、听力学和放射学评估都表明我们的病例是PPS。此外,甲状腺肿和听力损失的主要原因被认为是自身免疫性的病因。
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