Dyshormonogenetic goiter and associated non-thyroidal anomalies

Abstract

Background: Dyshormonogenetic goiter (DG) refers to familial goitres owing to an inherited defect in the metabolism of thyroid hormones and accounts for 10-15% of all cases of congenital hypothyroidism. Aim and Objective: To identify dysmorphic features, cardiac and urogenital anomalies in patients with DG following in the pediatric endocrinology clinic. Materials and Methods: Eight adolescents following the pediatric endocrinology clinic for hypothyroidism and associated stigmata were identified with dyshormonogenesis using 99mTc radionuclide thyroid scintigraphy and confirmation by the Perchlorate discharge test during a 6-month period from January to July 2012. Screening for associated malformations was done using clinical examination, echocardiography and ultrasonography of abdomen. Results: The eight patients (two boys and six girls) had a mean age of 9.87 years. The mean duration of goitre was 36.12 months. Two patients had mental retardation and delayed developmental milestones one of whom had ectopic left kidney on renal scintigraphy. Mitral regurgitation was seen in one patient whereas renal anomalies in the form of ectopic kidney and small/contracted kidney with grade III hydronephrosis was seen in two patients. Penoscrotal hypospadias was identified in one of the patients who also had small/contracted kidney with grade III hydronephrosis and underwent pyeloplasty for the same. Dysmorphic features in the form of high arched palate, depressed nasal bridge and low set ears was seen in one patient. Conclusion: DG is associated with other extra-thyroidal congenital anomaly, some of which may need to be treated.