OVERVIEW
OVERVIEW
Thyroid hormone resistance syndrome is characterized by decreased sensitivity of target tissues to thyroid hormone. Thyroid hormone resistance syndromes can be divided into three types: systemic thyroid hormone resistance; pituitary thyroid hormone resistance, also known as non-neoplastic TSH inappropriate secretion or non-neoplastic central hyperthyroidism; and peripheral tissue thyroid hormone resistance. Systemic thyroid hormone resistance is the most common and peripheral tissue thyroid hormone resistance is the least common.
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Department
Endocrinology
Synonyms
Refetoff syndrome
Clinical Symptoms
Goiter, palpitations, tachycardia, short stature, poor intelligence, skeletal deformities, congenital deafness.
Harms
It may affect the development of intelligence, hearing, bones, etc., resulting in mental retardation and skeletal deformities.
Complications
Deafness, mental retardation, delayed epiphyseal development, etc.
Examination
Physical examination, thyroid function test, chromosome determination, perchlorate test, glucagon test, X-ray film, ultrasound, etc.
Diagnosis
Diagnosis is based on family history, clinical manifestations such as goiter, combined with thyroid function test and imaging examination.
Treatment principle
Active symptomatic treatment.
Curability
Treatment is difficult because the sensitivity of different tissues to thyroid hormones can vary greatly, and it is sometimes difficult to adjust blood thyroid concentrations to levels appropriate for all tissues. Symptoms may improve with symptomatic treatment.
Dietary advice
Give a diet high in protein and rich in vitamins.
Important Reminder
The disease is inherited as an autosomal dominant trait. Women of childbearing age with a family history of the disease should be educated, preferably through family planning or birth control.
Etiology
Epidemiology
Rare disease with a prevalence of about 1 in 50,000, with familial occurrence, mostly in children and adolescents.
Etiology
The cause is unknown and may be related to mutations in the thyroid hormone receptor gene. About 90% of patients with thyroid hormone resistance syndrome have a family history of the disease, most of which are inherited in an autosomal dominant manner, with pure heterozygotes generally showing more severe manifestations than heterozygotes. Very few thyroid hormone resistance syndromes are inherited in an autosomal recessive pattern.
Symptoms and diagnosis
Typical symptoms
1. Systemic dysphoria (1) compensatory normal type: the pituitary gland and the surrounding tissues of this type of patients have a lesser degree of resistance or insensitivity to thyroid hormone, and can maintain a normal state, with no clinical manifestations of hyperthyroidism, normal intelligence, no deafness, and no delayed epiphyseal healing and development, but there can be varying degrees of goiter and delayed manifestations of the center of ossification. (2) Hypothyroidism: This type is characterized by elevated levels of thyroid hormones in the blood and clinical manifestations of hypothyroidism. It can be characterized by poor intelligence, backward development, backward bone maturity, somewhat colorful bones, backward bone age, but also winged scapula, spinal deformity, chicken chest, bird-like face, navicular cranium and the fourth metacarpal bone shortening and other abnormal manifestations. 2. Selective pituitary to thyroid hormone should not be disease (1) Autonomous type: the patient has a goiter and hyperthyroidism clinical manifestations, but there is no, epiphyseal healing can be delayed, there can be no short stature, intelligence, poor computation and other bone There may be no short stature, poor intelligence, poor arithmetic and other bone developmental abnormalities. (2) Partial type: the clinical manifestations may be the same as the autonomous type, but not as obvious as the autonomous type, and the clinical manifestations may be accompanied by hyperthyroidism and urolithiasis.3. Selective peripheral tissues should not respond to thyroid hormone, the clinical manifestations of goiter, no deafness and epiphyseal changes, and there is a manifestation of hypothyroidism, which is often accompanied by edema, fatigue, abdominal distension, constipation and other anomalies.
Diagnostic basis
1. patients may have a family history. 2. clinical manifestations are diffuse enlargement of the thyroid gland. 3. Thyroid function tests show elevated TT3, TT4, FT3, FT4, and rT3, and TSH is elevated or at the high limit of normal.4. There is a disproportionate relationship between the clinical manifestations and laboratory findings.
Treatment
Treatment guidelines
Improvement of symptoms by hormone, dopamine and other medications.
Drug therapy
1. Triiodothyronine acetic acid: it is the first choice for selective pituitary insensitive patients with hyperthyroidism manifestation, which can effectively reduce thyroxine level, shrink the enlarged thyroid gland and improve the symptoms of hyperthyroidism. 2. Thyroid hormone therapy: it can be applied and adjusted according to the condition and type, and hypothyroidism can be treated with levothyroxine and iodoselnine. 3. For pituitary thyroid hormone dysphoria the symptoms of hyperthyroidism should be controlled. Antithyroid drugs or 131Ⅰ treatment can be applied, etc. 4.: Dexamethasone combined with bromocriptine and other treatments can be used, but should not be applied for a long time. 4. Dopamine agonists: bromocriptine can be used for the treatment of patients with selective pituitary insensitivity type.
Prognosis
The prognosis of pituitary thyroid hormone insensitivity is better than that of partial target organ insensitivity to thyroid hormone due to different clinical classifications and more inconsistent treatment responses.
Nursing care
Daily care
Regular life, ensure sufficient sleep. Exercise appropriately to enhance physical fitness. Strengthen psychological care and actively cooperate with treatment. Follow the doctor’s instructions and take medication on time.
Diet
Give a diet rich in proteins and vitamins, and avoid stimulating substances such as tobacco, alcohol, strong tea and coffee.