Monogenic hearing loss

Gene: THRA

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#614450:Hypothyroidism, congenital, nongoitrous, 6[Growth deficit affecting lower segment of body; Increased body mass index; Growth retardation; Relative macrocephaly; Hypertelorism; Low or flat nasal bridge; Macroglossia; Delayed tooth eruption; Low resting heart rate; Low resting blood pressureTortuosity of arteries of dorsal hands and feet (in some patients); Omphalocele; ConstipationDilated bowelDelayed intestinal transit; Delayed fusion of cranial suturesPatent anterior fontanelMultiple wormian bonesDelayed bone age; Congenital hip dislocationAbsence of hip ossification centers; Decreased subischial leg length with normal sitting heightFemoral epiphyseal dysgenesisMild hypermobility and ligamentous laxity at knee and ankle; Dry skinDoughy skin (in some patients); Reduced muscle tone but normal power; Impairment of gross and fine motor coordinationSlow reactionsDifficulty with writing and drawingDrowsinessSlow, broad-based gait; Slow deep tendon reflexes; Placid affect; Slow, monotonous speechDeep or hoarse voice; Decreased basal metabolic rate; Total and free thyroxine low-normal or subnormalTotal and free triiodothyronine high-normal or elevatedTotal thyroxine to total triiodothyronine ratio markedly lowFree thyroxine to free triiodothyronine ratio markedly lowThyroid stimulating hormone normalThyroxine-binding globulin normalSex-hormone binding globulin markedly elevatedNormal growth hormone response to provocative testingInsulin-like growth factor slightly low; Anemia; Slightly elevated creatine kinaseSlightly elevated cholesterol]

Publications

• PMID:10022432
• 10902817
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