Chapter 16
Genetic Defects in Thyroid Hormone Supply, Thyroid Hormone Resistance Syndrome, Abnormalities of Thyroid Hormone Transport
CLINICAL CLASSIFICATION
INCIDENCE AND INHERITANCE
ETIOLOGY AND GENETICS
MOLECULAR BASIS OF THE DEFECT
Thyroid Hormone Action at the Gene Level
Properties of Mutant TRß Receptors and Dominant Negative Effect
MOLECULAR BASIS OF THE VARIABLE PHENOTYPE OF RTH
RTH WITHOUT TR GENE MUTATIONS (nonTR-RTH)
ANIMAL MODELS OF RTH
TRß Gene Manipulations
The Phenotype of TR
PATHOGENESIS
PATHOLOGY
CLINICAL FEATURES
COURSE OF THE DISEASE
LABORATORY FINDINGS
Thyroid Hormone and its Metabolites in Serum
Thyrotropin and Other Thyroid Stimulators
Thyroid Gland Activity and Integrity of Hormone Synthesis
Turnover of Thyroid Hormone
In-vivo Effects of Thyroid Hormone
Other Endocrine Tests
Bone age
In vitro Tests of Thyroid Hormone Action
RESPONSES TO THE ADMINISTRATION OF THYROID HORMONE
EFFECTS OF OTHER DRUGS
DIFFERENTIAL DIAGNOSIS
TREATMENT