[Familial deficiency of thyroxine-binding globulin].
A family with congenital athyropexinemia is reported. By reconstruction of the family tree over seven generations, a heterozygous woman born in 1842 was identified as the first carrier of the anomaly who introduced the disorder into two family branches by marrying twice. 24 descendants examined included 6 heterozygous females and 8 hemizygous males. All were euthyroid. The mode of inheritance was obviously linked to the X-chromosome. An interesting fact was that in one family thyroxine binding globulin was absent or measured only in traces in hemizygous patients.
D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011488:Protein Deficiency / Q000235:genetics*; D013975:Thyroxine-Binding Proteins / Q000172:deficiency*; D014960:X Chromosome
D013975:Thyroxine-Binding Proteins
Familiärer Mangel des thyroxinbindenden Globulins.