Hearing lossGene: TSHR
Inheritance:Autosomal dominant;Autosomal recessive;Isolated cases
Created: 9 Feb 2016, 10:08 a.m.
Mode of inheritance
#275200:Hypothyroidism, congenital, nongoitrous, 1[EuthyroidismNormal sized thyroid glandNo goiterHypothyroidism in subset of patientsPatients with hypothyroidism have hypoplastic thyroid gland; Absence of anti-thyroid antibodies; Increased serum thyroid-stimulating hormone (TSH)Normal or mildly decreased serum levels of free thyroid hormones]; #603373:Hyperthyroidism, familial gestational[<omim version=1.0><clinicalSynopsisList>]; #609152:Hyperthyroidism, nonautoimmune[Low birth weight; Absence of exophthalmos; Tachycardia; Advanced bone age; Absence of dermopathyAbsence of pretibial myxedema; Delayed motor developmentDelayed speech developmentMental retardationSleep difficulties; Hyperactivity; HyperthyroidismGoiterThyroid hyperplasiaAbsence of immune complexes and lymphocytes in thyroid tissue; Absence of anti-thyroid antibodies; Premature delivery of affected infants; Decreased serum thyroid-stimulating hormone (TSH)Increased serum levels of free plasma thyroid hormones]; #:Thyroid carcinoma with thyrotoxicosis
TSHR was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert