scholarly journals Compound hemizygous variants in SERPINA7 gene cause thyroxine‐binding globulin deficiency

Author(s):  
Yanlan Fang ◽  
Hong Chen ◽  
Qingqing Chen ◽  
Chunlin Wang ◽  
Li Liang
1990 ◽  
Vol 29 (01) ◽  
pp. 40-43 ◽  
Author(s):  
W. Langsteger ◽  
P. Költringer ◽  
P. Wakonig ◽  
B. Eber ◽  
M. Mokry ◽  
...  

This case report describes a 38-year-old male who was hospitalized for further clarification of clinically mild hyperthyroidism. His increased total hormone levels, the elevated free thyroid hormones and the elevated basal TSH with blunted response to TRH strongly suggested a pituitary adenoma with inappropriate TSH incretion. Transmission computed tomography showed an intrasellar expansion, 16 mm in diameter. The neoplastic TSH production was confirmed by an elevated alpha-subunit and a raised molar alpha-sub/ATSH ratio. However, T4 distribution on prealbumin (PA, TTR), albumin (A) and thyroxine binding globulin (TBG) showed a clearly increased binding to PA (39%), indicating additional prealbumin-associated hyperthyroxinemia. The absolute values of PA, A and TBG were within the normal range. After removal of the TSH-producing adenoma, basal TSH, the free thyroid hormones and T4 binding to prealbumin returned to normal. Therefore, the prealbumin-associated hyperthyroxinemia had to be interpreted as a transitory phenomenon related to secondary hyperthyroidism (T4 shift from thyroxine binding globulin to prealbumin) rather than a genetically conditioned anomaly of protein binding.


1973 ◽  
Vol 72 (2) ◽  
pp. 265-271 ◽  
Author(s):  
J. H. Dussault ◽  
D. A. Fisher ◽  
J. T. Nicoloff ◽  
V. V. Row ◽  
R. Volpe

ABSTRACT In order to determine the effect of alterations in binding capacity of thyroxine binding globulin (TBG) on triiodothyronine (T3) metabolism, studies were conducted in 10 patients with idiopathically low (7 subjects) or elevated (3 subjects) TBG levels and 10 subjects given norethandrolone (7 male subjects) or oestrogen (3 female subjects). Measurements of serum thyroxine (T4) concentration, maximal T4 binding capacity, serum T3 concentration and per cent dialyzable T3 were conducted. Serum T3 was measured both by chemical and radioimmunoassay methods. In patients with idiopathically low TBG, the mean serum T4 concentration was low (2.4 μg/100 ml), the mean serum T3 level low (55 ng/100 ml), the mean per cent dialyzable T3 increased (0.52%), and the calculated free T3 concentration normal (186 pg/100 ml). In patients with idiopathically high TBG levels the mean T4 concentration was high (10.3 μg/100 ml), the mean T3 level slightly elevated (127 ng/100 ml), the% dialyzable T3 low (0.10%) and the calculated free T3 concentration low normal (123 pg/100 ml). The correlation coefficient between the per cent dialyzable T3 and maximal TBG binding capacity in the 20 subjects was 0.68, a value significant at the P < 0.01 level. Thus, alterations in binding capacity of TBG seem to influence T3 and T4 metabolism similarly; the inverse relationship between the % of dialyzable hormone and total hormone concentration tends to keep the absolue levels of free hormones stable.


1973 ◽  
Vol 74 (4) ◽  
pp. 685-694 ◽  
Author(s):  
B.-A. Lamberg ◽  
R.-L. Kantero ◽  
P. Saarinen ◽  
O. Widholm

ABSTRACT In an endocrine survey of healthy girls aged 8 to 20 years before and after the menarche, the serum thyroxine (T4), uptake of triiodothyronine by Sephadex (T3U), and the binding capacities of thyroxine binding globulin (TBG) and pre-albumin (TBPA) were measured, and a free thyroxine index (FTI = T4 × T3U) was calculated. The subjects were grouped according to skeletal age (SA) until the menarche and after this in the post-menarcheal age (PMA), expressed in years. T4 and FTI increased concomitantly and reached peak values of 8.40 μg/100 ml and 8.40, respectively, at 2–3 years PMA. The corresponding mean values for post-menarcheal girls (7.74 μg/100 ml and 7.51) differed statistically significantly from the means before the menarche (7.03 μg/ 100 ml and 6.75). The TBG remained virtually unchanged during the whole period, whereas the TBPA showed a continuous increase and reached a maximal level 1–2 years after the menarche. The maturation process in girls in some way involves an increase in the total and free T4 level which is not dependent on hormone binding proteins.


1977 ◽  
Vol 252 (23) ◽  
pp. 8719-8723 ◽  
Author(s):  
M.C. Gershengorn ◽  
R.E. Lippoldt ◽  
H. Edelhoch ◽  
J. Robbins

1981 ◽  
Vol 27 (7) ◽  
pp. 1272-1276 ◽  
Author(s):  
L R Witherspoon ◽  
S E Shuler ◽  
M M Garcia

Abstract How well the free thyroxine index reflects thyroid functional status depends on the degree to which the triiodothyronine uptake test normalizes the effects of thyroxine binding protein concentrations on the total thyroxine concentration. We examined eight triiodothyronine uptake tests in which were used different secondary binders representative of those available in commercial kits. The relation between triiodothyronine uptake and thyroxine-binding globulin concentrations was established by use of sera from euthyroid individuals. We examined the effects of both high (greater than 20 mg/L) and low (less than 10 mg/L) thyroxine-binding globulin concentrations on triiodothyronine uptake. The precision of each assay, expressed as within- and between-run coefficient of variation, was calculated from multiple measurements on high, low, and midrange triiodothyronine uptake serum pools. The effects of variation in temperature and in exposure times were examined. The clinical most useful assays exhibited the ability to reflect a wide range of thyroxine-binding globulin concentrations and demonstrated little or no time or temperature effects.


1983 ◽  
Vol 57 (3) ◽  
pp. 665-667 ◽  
Author(s):  
DAVID SARNE ◽  
KIMBERLY BAROKAS ◽  
NEAL H. SCHERBERG ◽  
REFETOFF REFETOFF

Sign in / Sign up

Export Citation Format

Share Document