[Hypothyroidism and terminal renal failure in the neonatal period].

It has been described alterations of the thyroid function in patients with chronic renal disease without primary disease of the thyroid gland. Nevertheless primary hypothyroidism is more frequent in this population than in other non renal chronic disease. Authors report two cases of hypothyroidism diagnosed in infants with terminal renal failure in the neonatal period, secondary to renal hypoplasia / dysplasia, both in peritoneal dialysis programme.

Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism.

Objective: Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to a total iodide organification defect. The aim of the present study was to determine the nature and frequency of TPO gene mutations in patients with CH, characterised by elevated TSH levels and orthotopic thyroid gland, identified in the Portuguese National Neonatal Screening Programme.

Subjects And Methods: The sample comprised 55 patients, from 53 unrelated families, with follow-up in the endocrinology clinics of the treatment centres of Porto and Lisbon.