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Congenital hereditary hypothyroidism—prenatal diagnosis and treatment
Author(s) -
Hirsch Michael,
Josefsberg Zev,
Schoenfeld Alexander,
Pertzelan Athaliah,
Merlob Paul,
Leiba Sara,
Kohn Gertrude,
Ovadia Jardena,
Lubin Ernesto,
Laron Zvi
Publication year - 1990
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970100803
Subject(s) - congenital hypothyroidism , prenatal diagnosis , medicine , pediatrics , pregnancy , obstetrics , fetus , genetics , thyroid , biology
Abstract Intrauterine diagnosis of congenital hypothyroidism was established on the basis of TSH concentration in amniotic fluid in the 22nd week of gestation for the offspring of a couple both known to have an iodide organification defect. Prenatal treatment consisted of intramniotic injections of 500 meg Na‐1‐thyroxine, which was administered from the first amniocentesis until one week before delivery. Following delivery, the diagnosis was confirmed by the elevated level of TSH, 60‐5 uU/ml, and a gradual decrease of fT4 to 0·8 ng/ml. Regular substitution therapy was commenced on the third day of life. The normal shape and location of the thyroid gland was demonstrated by Technetium scintiscan. At 18 months the infant revealed no significant deviation from normalcy in growth or mental capacity. This experience indicates that testing of amniotic fluid for TSH in the 22nd week of gestation can be diagnostic for congenital primary hypothyroidism. Furthermore, it is suggested that the treatment approach described is warranted in all cases in which there is a high risk of congenital primary hypothyroidism.