Thyroid scintigraphy and perchlorate discharge test in the diagnosis of congenital hypothyroidism

1995 ◽  
Vol 22 (9) ◽  
pp. 1005-1008 ◽  
Author(s):  
Mahmoud EI-Desouki ◽  
Nasir AI-Jurayyan ◽  
Abdulrahman AI-Nuaim ◽  
Abdullah AI-Herbish ◽  
Abdullah Abo-Bakr ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Thyroid Scintigraphy ◽  
Perchlorate Discharge Test ◽  
Discharge Test

scholarly journals Clinical and laboratory features of children and adolescents with congenital hypothyroidism due to dyshormonogenesis in southern Brazil

2012 ◽  
Vol 56 (3) ◽  
pp. 201-208 ◽  
Author(s):  
Juliana Cristina Romero Rojas Ramos ◽  
Luiz de Lacerda Filho ◽  
Adriane de André Cardoso DeMartini ◽  
Rodrigo Bruel da Silveira ◽  
Rosana Marques Pereira ◽  
...  
Keyword(s):  
Congenital Hypothyroidism ◽  
Radioactive Iodine ◽  
Genetic Defect ◽  
Iodide Transport ◽  
Transport Defect ◽  
Perchlorate Discharge Test ◽  
Iodide Organification Defect ◽  
Organification Defect ◽  
Radioactive Iodine Uptake ◽  
Discharge Test

OBJECTIVE: To characterize the phenotype of patients with congenital hypothyroidism (CH) due to dyshormonogenesis, and to hypothesize on the degree of genetic defect. SUBJECTS AND METHODS: Patients with dyshormonogenesis were subdivided into G1 (radioactive iodine uptake, RAIU > 15%; n = 62) and G2 (RAIU < 15%; n = 32). Thyroglobulin (TG) was measured in all patients; perchlorate discharge test (PDT) was performed in G1; and saliva-to-plasma radioiodine ratio (I- S/P) in G2. RESULTS: Levels of TSH, TT4, and FT4 before treatment and upon diagnosis confirmation were significantly different in both groups, but not between groups. In G1, 27 patients developed goiter; 17 had positive PDT (14%-71% discharge), 11 had TG < 2.5 ng/dL (one with high TSH), and one developed thyroid carcinoma. In G2, four patients developed goiter, and three had low I- S/P. CONCLUSION: These data suggest an iodide organification defect in 17 cases; an iodide transport defect (NIS defect) in three, probable TSH resistance in 10, and a TG synthesis defect in two cases.

QUANTITATIVE STUDIES OF IODINE METABOLISM IN SPORADIC, NON-TOXIC GOITRE

1974 ◽  
Vol 76 (1) ◽  
pp. 67-73 ◽  
Author(s):  
H. Agerbæk ◽  
S. E. Jensen
Keyword(s):  
Iodine Deficiency ◽  
Iodine Uptake ◽  
Quantitative Studies ◽  
Euthyroid State ◽  
Iodine Metabolism ◽  
Dynamic Patterns ◽  
Perchlorate Discharge Test ◽  
Normal Controls ◽  
Discharge Test

ABSTRACT In 129 patients with non-toxic goitre and 27 normal controls, thyroid dynamic patterns were estimated in an attempt to elucidate pathogenesis. The clinically euthyroid state was confirmed by measurement of PBI, T3-sephadex uptake and BMR. Thyroid clearance (th. cl.), plasma iodide (PII), and absolute iodine uptake (AIU) were determined and a perchlorate discharge test performed. Twenty patients (16%) had a high AIU and were thus suspected of having dyshormonogenesis; nine were thoroughly investigated and in six dyshormonogenesis was found. Both normals and non-toxic goitre patients had a low PII, but in the goitrous patients values were lowest. The thyroid clearance of iodide was significantly higher in the goitre patients, suggesting iodine deficiency to be a major aetiologic factor for goitre formation. AIU was higher in the goitre patients than in normals, suggesting a larger iodine leakage from the thyroid in these patients.

TYPICAL AND ATYPICAL CASES OF PENDRED'S SYNDROME IN ONE FAMILY

1966 ◽  
Vol 53 (2) ◽  
pp. 264-270 ◽  
Author(s):  
G. M. Bax
Keyword(s):  
Hearing Loss ◽  
Two Generations ◽  
Complete Form ◽  
Pendred’S Syndrome ◽  
Perchlorate Discharge Test ◽  
Loss Of Hearing ◽  
Discharge Test

ABSTRACT Pendred's syndrome is a condition which, in its complete form, is characterized by congenital deaf-mutism, goitre, and defective organic binding of iodide in the thyroid. However, there are less typical cases, e. g. without a goitre, with only limited hearing loss, or a normal perchlorate discharge test. A family was studied in which Pendred's syndrome was found in two generations. The complete form was present in two members; two other members were considered to show less typical forms of the same disorder. All were euthyroid. Three out of five sons were deaf-mute and goitrous. Perchlorate caused a discharge of radioiodine from the thyroid in two of them, and also in the father who had no goitre and a slight loss of hearing only detectable by audiometry. Peripheral deiodination of radioactive diiodotyrosine was normal in all patients, but had been abnormal in one son while he was hypothyroid.

A Twenty-Minute Perchlorate Discharge Test

1972 ◽  
Vol 34 (3) ◽  
pp. 594-597 ◽  
Author(s):  
HENRY W. GRAY ◽  
LESLIE A. HOOPER ◽  
WILLIAM R. GREIG ◽  
IAIN R. MCDOUGALL
Keyword(s):  
Perchlorate Discharge Test ◽  
Discharge Test

scholarly journals Concurrence of Pendred Syndrome, Autoimmune Thyroiditis, and Simple Goiter in One Family

1999 ◽  
Vol 84 (8) ◽  
pp. 2736-2738 ◽  
Author(s):  
Bijayeswar Vaidya ◽  
Rebecca Coffey ◽  
Beth Coyle ◽  
Richard Trembath ◽  
Camille San Lazaro ◽  
...  
Keyword(s):  
Autoimmune Thyroiditis ◽  
Mutational Analysis ◽  
Pendred Syndrome ◽  
Diagnostic Difficulties ◽  
Diagnostic Confusion ◽  
Perchlorate Discharge Test ◽  
Chromosome 7Q ◽  
Diagnostic Pitfalls ◽  
Pds Gene ◽  
Discharge Test

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 transporter gene (PDS gene), located on chromosome 7q. A wide variation in the clinical presentation of this condition, and its well documented phenotypic overlap with other thyroid disorders (such as Hashimoto’s thyroiditis), can lead to diagnostic difficulties. The potential for misdiagnosis increases when these disorders occur coincidentally in the same family. We describe a kindred in which Pendred syndrome, autoimmune thyroiditis, and simple goiter coexisted, to highlight these diagnostic pitfalls and to illustrate the use of mutational analysis in resolving diagnostic confusion.

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