A Novel Mutation in the TBG Gene Producing Partial Thyroxine-Binding Globulin Deficiency (Glencoe) Identified in 2 Families.

ABSTRACT:

Background

Thyroxine-binding globulin (TBG) is the major thyroid hormone transport protein in serum. Located on the long arm of the X chromosome, TBG (SERPINA7) gene mutations most commonly produce inherited partial TBG deficiency (TBG-PD).

Objective

We report a novel TBG variant associated with TBG-PD identified in 2 different families of Ashkenazi origin residing in greater Chicago.

Methods

Family 1: The proband was 12.6 years old when she presented for delayed puberty and was placed on L-T₄. Although her serum TSH normalized, her serum T₄ remained low. Affected family members had low total T₄ and T₃, but a normal free T₄ index, even when serum TSH concentrations were normal. Family 2: A 71-year-ol

SUBMITTER: Pappa T 

PROVIDER: S-EPMC5527229 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature