Thyroid hemiagenesis (TH) is a rare congenital anomaly that is usually asymptomatic. Functional disorders of the thyroid make the patient symptomatic. TH is usually and incidentally established during evaluation of patients with symptomatic thyroid pathology. We report the case of a patient of TH who became symptomatic with hyperactivity of the gland. The patient presented with signs and sympto...

OBJECTIVES To describe the findings of thyroid ultrasonography (T-US), its contribution to diagnose congenital hypothyroidism (CH) and the best time to perform it. SUBJECTS AND METHODS Forty-four patients with CH were invited to undergo T-US and 41 accepted. Age ranged from 2 months to 45 years; 23 patients were females. All were treated with L-thyroxine; 16 had previously undergone scintigra...

Thyroid hemiagenesis (TH) is characterized by the congenital absence of one thyroid lobe. The aim of this study was to evaluate the calcium-phosphate balance in TH. Twenty patients with TH and 20 controls with a bilobed thyroid were studied. Serum concentrations of total calcium, parathormon and calcitonin were measured. Additionally, the immunohistochemical expression of calcitonin, chromogran...

Thyroid dysgenesis is the major cause of congenital hypothyroidism in humans. The underlying molecular mechanism is in most cases unknown, but the frequent co-incidence of cardiac anomalies suggests that the thyroid morphogenetic process may depend on proper cardiovascular development. The T-box transcription factor TBX1, which is the most probable gene for the 22q11 deletion syndrome (22q11DS/...