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

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.