NBME 20 Answers : Block 2 : #26 = A male newborn is found to have a decreased blood ...

NBME 20 Answers

nbme20/Block 2/Question#26

A male newborn is found to have a decreased blood ...

Thyroid hormone-binding globulin deficiency

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submitted by monoloco(58),

Decreased total, normal free (unbound) = Thyroid hormone-binding globulin deficiency

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submitted by whossayin(7),

why can't "organification defect in T3 and T4" be the answer?

sugaplum I think if it was organification defect you wouldn't have a normal T4 level in the serum. +3

+1 upvote downvote
submitted by sugaplum(51),

This is apparently congenital thyroid binding globulin deficiency

"Thyroxine-binding globulin deficiency — Thyroxine-binding globulin (TBG) deficiency is characterized by low serum total T4 but normal free T4 and TSH; the diagnosis is confirmed by measuring TBG concentrations. These infants have normal thyroid function and do not require treatment." - uptodate *can't find in FA, maybe it is in there somewhere?

hhsuperhigh The only thing I can relate to this is FA P331 " TBG in pregnancy, OCP use (estrogen increases TBG) increases total T3/T4", so here is the opposite situation, which TBG decreases, and total T3/T4 decreases... +2

+0 upvote downvote
submitted by hhsuperhigh(2),

This is how my brain farted while I was doing this question.... I wanted to choose TBG deficiency, but I kept thinking that if TBG is deficient, that means there are less or no binding proteins in the blood. And how can the free T4 be normal? Shouldn't free T4 increase if there were less T4 binding protein? ...

+0 upvote downvote
submitted by step1soon(11),

The 3 main proteins that carry the majority (>95%) of Thyroid Hormones (TH) are thyroxine-binding globulin (TBG), transthyretin (TTR, or prealbumin), and albumin. A minor proportion of the THs is bound on serum lipoproteins. Very rarely, and in the context of anti-TH antibodies in autoimmune thyroid disease, immunoglobulins also may bind TH. TH binding to TBG is characterized by low capacity but high avidity; the converse is true, ie, high capacity but low avidity, for TH binding to TTR and albumin.

A deficiency in TH-binding proteins is suspected when abnormally low serum total TH concentrations are encountered in clinically euthyroid subjects in the presence of normal serum thyrotropin (ie, thyroid-stimulating hormone [TSH]). More specifically, low TBG is suggested because this protein carries the majority of the serum TH.

Several states of deficiency of this protein have been described that are either inherited or acquired. Thyroid function tests (TFTs) in patients with TBG deficiency show normal TSH and free T4, but low total T4 and, occasionally, low total T3 serum concentrations. The most important clinical aspect of TBG deficiency states is recognition of these disorders and avoidance of unnecessary and potentially harmful TH replacement therapy.