Peripheral thyroid hormone resistance

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Classification according to ICD-10
E07.8 Other specified diseases of the thyroid gland
E07.9 Thyroid disease, unspecified
ICD-10 online (WHO version 2019)

In summary, peripheral thyroid hormone resistance describes a heterogeneous group of rare congenital diseases with the main characteristics of hearing loss and resistance to thyroid hormones , in which sufficient thyroid hormones are produced but these cannot affect the cells of the body. The various forms of the disease can be associated with a congenital goiter and / or an insufficient supply of thyroid hormones .

Synonyms are: Refetoff-De-Wind-De-Groot syndrome; Refetoff syndrome

The name refers to the first authors of the first description from 1967 by the internists Samuel Refetoff, Loren T. De Wind and Leslie J. De Groot.

Classification

Depending on the form of resistance to thyroid hormone, the following forms can be distinguished:

  • Generalized form (all body tissue is resistant). The most common form is general peripheral thyroid hormone resistance , with neither the pituitary nor the other tissues responding adequately to thyroxine (T 4 ) and triiodothyronine (T 3 ).
  • Selective form (pituitary gland is the only body tissue affected or not affected)
    • Selective pituitary resistance (only the effectiveness on the central pituitary hormone resistance is missing )
    • Selective peripheral resistance

distribution

The frequency is given as 1 in 50,000 live births.

root cause

The disease in the majority of cases, mutations in THRB - gene on chromosome 3 locus p24.2 basis that the hormone binding domain of the T 3 encoded receptor b gene.

Inheritance occurs as an autosomal dominant or autosomal - recessive .

Clinical manifestations

Clinical criteria are:

If the pituitary gland is hormone resistant ( central and generally peripheral type ), the TSH level is constantly increased. This can lead to goiter formation and sometimes hyperthyroidism (overactive thyroid gland).

Diagnosis

T 4 and T 3 are above the norm. Thyrotropin (TSH) is normal or only moderately increased. The increase in TSH in the TRH test is normal or increased. TSH cannot be suppressed by giving T 4 .

The assessment of whether euthyroidism or hyperthyroidism is present has to be made clinically, as the TSH value is not reliable. The Achilles tendon reflex time and the pulse wave appearance time can be used as an aid here.

therapy

In the general form, therapy is generally not given if normal thyroid function is suspected. If the patient is clinically underactive, T 4 is given in the dose at which normal function is clinically achieved.

In the pituitary form, thyroid therapy is used if, according to clinical assessment, there is hyperfunction. You can try to suppress the release of TSH with high doses of D-thyroxine or D-triiodothyronine. If it is unsuccessful, the thyroid gland must finally be completely surgically removed ( thyroidectomy ). The subsequent substitution treatment with thyroid hormones must again be based on the clinical picture, since the TSH value is not reliable.

literature

  • Lothar-Andreas Hotze, Petra-Maria Schumm-Draeger: Thyroid diseases. Diagnosis and therapy. Berlin 2003, ISBN 3-88040-002-4 .
  • Wieland Meng: Thyroid Diseases. Jena 1992, ISBN 3-334-60392-X .
  • W. Reinhardt, F. Jockenhövel, J. Deuble, VK Chatterjee, D. Reinwein, K. Mann: [Thyroid hormone resistance: variable clinical manifestations in five patients]. In: Nuclear Medicine. Nuclear medicine. Vol. 36, No. 7, October 1997, pp. 250-255, PMID 9441285
  • S. Refetoff, RE Weiss, SJ Usala: The syndromes of resistance to thyroid hormone. In: Endocrine reviews. Vol. 14, No. 3, June 1993, pp. 348-399, doi: 10.1210 / edrv-14-3-348 , PMID 8319599 (review).

Individual evidence

  1. a b Generalized resistance to thyroid hormones. In: Orphanet (Rare Disease Database).
  2. Edinburgh Center for Endocrinology & Diabetes: Codes for endocrine database - revised November 2013 (accessed February 24, 2019).
  3. a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  4. S. Refetoff, LT DeWind, LJ DeGroot: Familial syndrome combining deaf-mutism, stuppled epiphyses, goiter and abnormally high PBI: possible target organ refractoriness to thyroid hormone. In: The Journal of clinical endocrinology and metabolism. Vol. 27, No. 2, February 1967, pp. 279-294, doi: 10.1210 / jcem-27-2-279 , PMID 4163616 .
  5. MT McDermott, EC Ridgway: Thyroid hormone resistance syndromes. In: The American journal of medicine. Vol. 94, No. 4, April 1993, pp. 424-432, PMID 8475937 (review).
  6. ^ Roy E. Weiss, Samuel Refetoff: Treatment of Resistance to Thyroid Hormone—. In: The Journal of Clinical Endocrinology & Metabolism. Vol. 84, 1999, p. 401, doi: 10.1210 / jcem.84.2.5534
  7. Thyroid hormone resistance.  In: Online Mendelian Inheritance in Man . (English)
  8. ^ Thyroid hormone resistance, autosomal recessive.  In: Online Mendelian Inheritance in Man . (English)

Web links