FAMILIAL THYROXINE-BINDING GLOBULIN DEFICIENCY IN ASSOCIATION WITH NON-TOXIC GOITRE

1979 ◽  
Vol 91 (1) ◽  
pp. 70-76 ◽  
Author(s):  
Paul Bratusch-Marrain ◽  
Hannes Haydl ◽  
Werner Waldhäusl ◽  
Robert Dudczak ◽  
Wolfgang Graninger
Keyword(s):  
Clinical Evidence ◽  
Autosomal Dominant ◽  
Serum Concentrations ◽  
Dominant Inheritance ◽  
Normal Range ◽  
Thyroxine Binding Globulin ◽  
The Family ◽  
High Incidence ◽  
Total Thyroxine ◽  
Mode Of Transmission

ABSTRACT A kindred is presented in which 4 members in 3 generations showed absent or reduced serum concentrations of thyroxine-binding globulin (TBG). TBG was undetectable by radioimmunoassay in one male and decreased to varying extent in 3 female patients (4.0, 4.2 and 8.6 μg/ml; normal range 12.5–26.0 μg/ml). Total thyroxine serum concentrations in the affected subjects were well in the hypothyroid range without clinical evidence of hypothyroidism. The mode of transmission of the trait was consistent with X-chromosome linkage. A high incidence of non-toxic goitre was also present in most of the family members examined irrespective of TBG levels. The transmission of the goitre trait was compatible with autosomal dominant inheritance. Thus its association with transmission of TBG deficiency was interpreted as not causal but coincidental.

scholarly journals Familial primary spontaneous pneumothorax consistent with true autosomal dominant inheritance.

Thorax ◽  
1998 ◽  
Vol 53 (2) ◽  
pp. 151-152 ◽  
Author(s):  
P J Morrison ◽  
R C Lowry ◽  
N C Nevin
Keyword(s):  
Spontaneous Pneumothorax ◽  
Autosomal Dominant ◽  
Age Of Onset ◽  
Autosomal Dominant Inheritance ◽  
Clinical Entity ◽  
Primary Spontaneous Pneumothorax ◽  
Dominant Inheritance ◽  
Distinct Clinical Entity ◽  
The Family ◽  
Mode Of Inheritance

A family exhibiting spontaneous pneumothorax in a father and three offspring (two sons, and one daughter) is described. The mode of inheritance is apparently autosomal dominant with two episodes of male to male transmission in one family. The age of onset varied by up to 13 years within the family. Isolated autosomal dominant pneumothorax appears to be a distinct clinical entity.

Serum concentrations of 3,5,3',5'-tetraiodothyroacetate (T4A) in subjects with hypo-, hyper- and euthyroidism

1986 ◽  
Vol 112 (2) ◽  
pp. 192-196 ◽  
Author(s):  
D. B. Ramsden ◽  
D. N. Crossley
Keyword(s):  
Human Subjects ◽  
Serum Levels ◽  
Free Thyroxine ◽  
Serum Concentrations ◽  
Normal Range ◽  
Thyroxine Binding Globulin ◽  
Factors Influencing ◽  
The Relationship ◽  
Peripheral Metabolism

Abstract. Some factors influencing serum 3,5,3',5'-tetradiodothyroacetate (T4A) concentrations were examined in hypothyroid, euthyroid and hyperthyroid human subjects. Serum T4A concentration was shown to be correlated with parameters such as serum, total and free thyroxine (T4) concentrations and thyroxine: thyroxine binding globulin ratio, which are indicative of the availability of T4 for peripheral metabolism. The relationship between T4A and these parameters was not a simple linear one; serum levels of T4A tended to show less variation from the normal range than did serum total T4 in hyperthyroid subjects.

Dominantly Inherited Unilateral Terminal Transverse Defects of the Hand (Adactylia) in Twin Sisters and One Daughter

PEDIATRICS ◽  
1986 ◽  
Vol 78 (1) ◽  
pp. 103-106
Author(s):  
John M. Graham ◽  
Forst E. Brown ◽  
Carol L. Struckmeyer ◽  
Christian Hallowell
Keyword(s):  
Autosomal Dominant ◽  
Proximal Phalanx ◽  
The Other ◽  
Type B ◽  
Dominant Inheritance ◽  
Left Hand ◽  
The Family ◽  
Other Woman ◽  
The Right ◽  
Transverse Defect

Most previous cases of unilateral terminal transverse defects of the hand have not been familial. Several previously reported cases of apparent autosomal dominant inheritance of such defects have subsequently been reclassified as type B brachydactyly. We report a pair of adult twin women with unilateral terminal transverse defects affecting the left hand in one woman and the right hand in the other woman. The latter woman has one daughter with a unilateral terminal transverse defect affecting the left hand. The hand anomaly is characterized by absence of the terminal portions of digits 2 to 5 with a mildly hypoplastic thumb (adactylia). Tiny nail remnants are evident on the remaining digital stumps, and no soft tissue syndactyly is apparent. At 2 years of age, the daughter has hypoplastic first, fourth, and fifth metacarpals with no ossification of the second or third metacarpals or any of the phalanges. The affected mother has hypoplastic metacarpals for digits 2 to 4 and a vestigial fifth proximal phalanx on the affected hand, with no other phalanges evident by roentgenogram other than those of the thumb. The mother's twin sister has similar findings, except the ossified phalangeal remnant is on her second and third fingers rather than her fifth finger. Doppler flow arterial patterns appeared normal in each hand of affected family members. The other hand and both feet are clinically and radiologically normal in each case, and the family history is negative for any other individuals with limb anomalies. A review of the literature suggests that this family may very well be unique.

scholarly journals Analysis of the Genetic Characteristics of a Chinese Family With Otosclerosis

2020 ◽  
pp. 014556132091062
Author(s):  
Yongli Zhang ◽  
Qi Tang ◽  
Ruoyan Xue ◽  
Xiaohui Zhu ◽  
Hua Yang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Autosomal Dominant ◽  
Family Members ◽  
Autosomal Dominant Inheritance ◽  
Dominant Inheritance ◽  
Genetic Characteristics ◽  
Whole Exome ◽  
The Family

Background: Otosclerosis is a focal lesion of the inner ear. The role of genetic factors in the pathogenesis of otosclerosis has received increasing attention. We analyzed the clinical manifestations, inheritance pattern, and pathogenic genes in a family with otosclerosis. Methods: We collected clinical data and generated a family pedigree. High-throughput second-generation sequencing technology was used to identify candidate genes by performing whole-exome sequencing of 7 members of the family, and Sanger sequencing was performed to validate candidate gene mutations in the 7 family members. Results: Otosclerosis was characterized by autosomal dominant inheritance in this family. Whole-exome sequencing did not reveal mutation sites in known deafness-related genes. However, a c.2209A > G (p.T737A) mutation was detected in exon 6 of the SP1 gene, which is associated with the COL1A1 gene. This mutation was a pathogenic mutation, and Sanger sequencing confirmed that this mutation cosegregated with the clinical phenotype among the family members. Conclusions: The pattern of otosclerosis in this family is consistent with autosomal dominant inheritance, and the SP1 gene, harboring the c.2209A > G (p.T737A) mutation in exon 6, may be the causative gene of otosclerosis in this family.

Inherited Fibrinogen Abnormality Causing Thrombophilia

1967 ◽  
Vol 17 (01/02) ◽  
pp. 176-187 ◽  
Author(s):  
O Egeberg
Keyword(s):  
Autosomal Dominant ◽  
Normal Values ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Coagulation Defect ◽  
The Family ◽  
Coagulation Tests ◽  
High Incidence ◽  
The Difference ◽  
Thrombotic Tendency

SummaryA family with high incidence of thrombo-embolic diseases is described. Thromboses are reported from members of 3 generations, mostly as leg vein affections, frequently complicated with pulmonal embolism. The family is also known for epileptic manifestations.Investigations of affected members gave normal values for ordinary coagulation tests; procoagulant factor activities were found normal, and no systematic deficiencies in natural anticoagulants could be demonstrated. A tendency to short plasma thrombin times was, however, revealed. The difference between patients and normals could not be eliminated by Al(OH)3-adsorption of the plasmas, and it was still distinct when the plasmas were diluted in defibrinated normal plasma or in congenitally fibrinogen deficient plasma. Isolated fibrinogen from one of the patients gave markedly shortened thrombin times compared with normal fibrinogen. When test plasmas were heat-defibrinated and isolated normal fibrinogen added, no systematic differences in thrombin times between patients and normals could be found, while corresponding addition of patient’s fibrinogen gave shorter thrombin times.The results strongly support the explanation that the plasmas of the affected family members contain an abnormal fibrinogen, and that this protein defect is responsible for their thrombotic tendency.The possibility is considered that the epileptic manifestations in the family might also to some degree be precipitated by cerebral damage due to thrombo-embolic episodes.The coagulation defect seems to be inherited as an autosomal dominant trait.

FAMILIAL ELEVATION OF SERUM THYROXINE-BINDING GLOBULIN CAPACITY

1969 ◽  
Vol 60 (1) ◽  
pp. 130-136 ◽  
Author(s):  
K. Siersbæk-Nielsen ◽  
J. Mølholm Hansen ◽  
E. Hippe
Keyword(s):  
Thyroid Gland ◽  
Normal Values ◽  
Free Thyroxine ◽  
Dominant Inheritance ◽  
Thyroxine Binding Globulin ◽  
Serum Thyroxine ◽  
Three Generations ◽  
Mode Of Transmission

ABSTRACT Elevated thyroxine-binding globulin capacity in serum (TBG) was found in five members of a family. Two males and three females in three generations had elevated TBG, protein-bound iodine and serum thyroxine but decreased dialysable thyroxine. The patients were clinically euthyroid and calculations of free thyroxine in serum and 131I uptake in the thyroid gland showed normal values. These results support the assumption that TBG is genetically controlled. The mode of transmission was consistent with dominant inheritance but it is not possible to determine whether it is x-linked or autosomal.

INHERITED DECREASE OF THE BINDING CAPACITY OF THYROXINE-BINDING GLOBULIN (TBG)

1970 ◽  
Vol 64 (1) ◽  
pp. 171-180 ◽  
Author(s):  
O. P. Heinonen ◽  
B.-A. Lamberg ◽  
J. Virtamo
Keyword(s):  
Autosomal Dominant ◽  
Binding Capacity ◽  
Normal Subjects ◽  
Free Thyroxine ◽  
Gradual Change ◽  
Normal Range ◽  
Thyroxine Binding Globulin ◽  
The Difference ◽  
Factor Governing ◽  
Mode Of Inheritance

ABSTRACT A family with a decrease in the binding capacity of thyroxine binding globulin (TBG) is described. The gene was probably transmitted by a female who married twice. Five subjects were considered TBG deficient, with TBG values ranging from 8.4 to 16.8 μg/100 ml. Of these subjects 2 were males and 3 females; the males had the lowest binding capacities. In addition, 1 male and 3 females had TBG values within the low normal range and were considered as possibly affected. The mode of inheritance could not be exactly defined but there were indications that it might be an autosomal dominant. The correlation of TBG to the protein-bound iodine in the serum (PBI), to the triiodothyronine uptake by Sephadex (T3-U), to the ratio between them (T3-U/PBI), and to the proportionate free thyroxine (PFT4) was strongly positive or negative. A gradual change in these variables from the affected to the unaffected subjects was observed. These correlations indicated that in normal subjects TBG is the most important factor governing the PBI and free thyroxine levels. In addition, a strong inverse and statistically significant correlation was observed between the binding capacity of TBG and that of the pre-albumin (TPBA). The difference between affected and unaffected subjects with regard to TPBA was also statistically significant.

Genetics and clinical significance of thyroxine binding globulin deficiency, an analysis of seven families

1985 ◽  
Vol 109 (1) ◽  
pp. 83-89
Author(s):  
M. Kollind ◽  
L. Iselius ◽  
T. Pettersson ◽  
U. Adamson ◽  
A. Carlström
Keyword(s):  
Clinical Symptoms ◽  
Thyroid Stimulating Hormone ◽  
Blood Levels ◽  
Normal Range ◽  
Mothers And Daughters ◽  
Nuclear Families ◽  
Thyroxine Binding Globulin ◽  
Mode Of Transmission ◽  
Points Of View ◽  
Tsh Levels

Abstract. Seven families, ascertained through probands with undetectable levels of thyroxine binding globulin (TBG) were studied from clinical and genetic points of view. The blood levels of TBG, thyroxine binding prealbumin (TBPA), thyroid-stimulating hormone (TSH), triiodothyronine (T3), and thyroxine (T4) were determined in altogether 128 family members. The concentration of free thyroxine (FT4) was calculated from the concentrations of T4, TBG and TBPA. Only men (n = 15) were found to have total TBG deficiency. Their TSH levels were within normal range and they did not show any clinical symptoms of thyroid dysfunction. The mothers and daughters of the affected men had significantly lower TBG levels than control women. Segregation analysis performed on 46 nuclear families showed significant evidence for an X-linked additive mode of transmission and an additional multifactorial component with heritability 0.47.

Transient Prealbumin- Associated Hyperthyroxinemia in TSH-Producing Pituitary Adenoma

1990 ◽  
Vol 29 (01) ◽  
pp. 40-43 ◽  
Author(s):  
W. Langsteger ◽  
P. Költringer ◽  
P. Wakonig ◽  
B. Eber ◽  
M. Mokry ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Pituitary Adenoma ◽  
Thyroid Hormones ◽  
Protein Binding ◽  
Alpha Subunit ◽  
Normal Range ◽  
Thyroxine Binding Globulin ◽  
Free Thyroid Hormones ◽  
Transmission Computed Tomography

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.

The Prevalence of Hereditary Antithrombin-III Deficiency in Patients with a History of Venous Thromboembolism

1985 ◽  
Vol 54 (04) ◽  
pp. 744-745 ◽  
Author(s):  
R Vikydal ◽  
C Korninger ◽  
P A Kyrle ◽  
H Niessner ◽  
I Pabinger ◽  
...  
Keyword(s):  
Venous Thrombosis ◽  
Antithrombin Iii ◽  
Positive Family History ◽  
Normal Range ◽  
The Family ◽  
History Of ◽  
Antithrombin Iii Deficiency ◽  
Recurrent Venous Thrombosis ◽  
Antithrombin Iii Activity ◽  
Slight Deficiency

SummaryAntithrombin-III activity was determined in 752 patients with a history of venous thrombosis and/or pulmonary embolism. 54 patients (7.18%) had an antithrombin-III activity below the normal range. Among these were 13 patients (1.73%) with proven hereditary deficiency. 14 patients were judged to have probable hereditary antithrombin-III deficiency, because they had a positive family history, but antithrombin-III deficiency could not be verified in other members of the family. In the 27 remaining patients (most of them with only slight deficiency) hereditary antithrombin-III deficiency was unlikely. The prevalence of hereditary antithrombin-III deficiency was higher in patients with recurrent venous thrombosis.

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