Pendred's syndrome is defined as a triad of congenital perceptive hearing loss, goiter, and abnormal perchlorate test. Three brothers with Pendred's syndrome [P.S.] are reported. The oldest brother has hearing loss (he has been deaf and mute since childhood) and has a large goiter. A thyroid scan revealed euthyroid multinodular goiter and a perchlorate test was performed, and reported abno...

Pendred syndrome is the autosomal recessively transmitted association of familial goiter and congenital deafness. There is no specific biochemical marker of this disease, and the diagnosis depends upon the demonstration of the triad of congenital sensorineural hearing loss, goiter, and abnormal perchlorate discharge test. Pendred syndrome is caused by mutations within the putative ion transport...

In vitro translation of the mRNA from the congenital goiter tissue of Afrikander cattle directs the synthesis of two (Mr congruent to 250,000 and congruent to 75,000, respectively) abnormal thyroglobulin-like polypeptides. Common features of these polypeptides are the following: 1) both are immunoprecipitated by purified, anti-thyroglobulin antibody; 2) the signal sequence is present on their n...

Dyshormonogenetic goiter is a rare cause of congenital hypothyroidism occurring due to a lack of enzymes necessary for the synthesis of thyroid hormones. It is morphologically characterized by architectural and cellular pleomorphism that may mimic thyroid malignancy and cause difficulties in differential diagnosis. We report a new case occurring in a 37-year-old male with history of hypothyroid...

In babies with congenital hypothyroidism, goiter and respiratory distress (due to upper airway compression/hypothyroidism) are rarely encountered as the first presenting signs. Computerized Tomography of neck revealed enlargement all thyroid gland lobes further laboratory hypothyroidism. Thyroid hormone replacement therapy was initiated early, which resulted in a significant reduction regressio...

pendred's syndrome is defined as a triad of congenital perceptive hearing loss, goiter, and abnormal perchlorate test. three brothers with pendred's syndrome [p.s.] are reported. the oldest brother has hearing loss (he has been deaf and mute since childhood) and has a large goiter. a thyroid scan revealed euthyroid multinodular goiter and a perchlorate test was performed, and reported...

Dyshormonogenetic goiter resulting in neck swelling in a fetus is very unusual. We present a case of congenital dyshormonogenetic goitre in a fetus with hypothyroidism and respiratory distress at birth. He underwent planned EXIT procedure.

Pendred syndrome (PDS) is an autosomal recessive disorder characterized by congenital deafness, goiter and iodide organification defect. Presence of inner ear malformations is essential for the clinical diagnosis. Most individuals with PDS are clinically and biochemically euthyroid. Mutations in the PDS gene encoding pendrin protein have been shown to be associated with PDS. It has been recentl...

BACKGROUND Iodine deficiency produces the spectrum of iodine deficiency disorders (IDDs) including endemic goiter, hypothyroidism, cretinism and congenital anomalies. Other factors, including goitrogens and micronutrient deficiencies may influence the prevalence and severity of IDDs and response to iodine supplementation. An association between zinc and goiter has previously been reported. ME...