[Discovery, in neonatal screening, of 2 families carrying a syndrome of generalized resistance to thyroid hormones].

Article

[Discovery, in neonatal screening, of 2 families carrying a syndrome of generalized resistance to thyroid hormones].

Annales de pediatrie - 1 Sept 1993

Poitrineau P, Malpuech G, Nivelon J L, Huet F, Giraud G, François C, Carla H, Loriette Y

Abstract excerpt

The syndrome of generalized resistance to thyroid hormones is being increasingly diagnosed, albeit often belatedly. In the two families described herein the diagnosis was established when moderately elevated thyrotropin levels were found upon neonatal screening of a family member. The family studies identified other affected members with a pattern indicating autosomal dominant inheritance. Clinical and laboratory...

Topics

Female
Genes, Dominant
Genetic Carrier Screening
Genetic Diseases, Inborn
Humans
Infant, Newborn
Male
Mutation
Neonatal Screening
Pedigree
Receptors, Cytoplasmic and Nuclear

Receptors, Thyroid Hormone

Syndrome

Thyrotropin

Thyroxine

Triiodothyronine

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