Glucocorticoid Resistance

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Classification according to ICD-10
E25.8 Other adrenogenital disorders
ICD-10 online (WHO version 2019)

The glucocorticoid resistance is a very rare congenital disease with incomplete pronounced insensitivity ( resistance ) of body tissue compared to glucocorticoids .

Synonyms are: glucocorticoid resistance syndrome; English Chrousos Syndrome; Generalized Glucocorticoid Resistance; GCCR; Glucocorticoid Receptor Deficiency; Cortisol Resistance From Glucocorticoid Receptor Defect

The name refers to the first author of a description from 1993.

The first description is from 1976 by the Dutch endocrinologists AC Vingerhoeds, JH Thijssen and F. Schwarz.

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease are mutations in NR3C1 - gene on chromosome 5 locus q31.3 based on which the glucocorticoid receptor encoded NR3C1.

Clinical manifestations

Clinical criteria are:

Differential diagnosis

Other forms of pseudohyperaldosteronism must be distinguished .

literature

  • NC Nicolaides, EB Geer, D. Vlachakis, ML Roberts, AM Psarra, P. Moutsatsou, A. Sertedaki, S. Kossida, E. Charmandari: A novel mutation of the hGR gene causing Chrousos syndrome. In: European journal of clinical investigation. Vol. 45, No. 8, August 2015, pp. 782-791, doi: 10.1111 / eci.12470 , PMID 26031419 .
  • EF van Rossum, SW Lamberts: Glucocorticoid resistance syndrome: A diagnostic and therapeutic approach. In: Best practice & research. Clinical endocrinology & metabolism. Vol. 20, No. 4, December 2006, pp. 611-626, doi: 10.1016 / j.beem.2006.09.005 , PMID 17161335 (review).
  • M. Karl, HM Schulte: Familial glucocorticoid resistance as a differential diagnosis of hypercortisolism: Clinical and molecular genetic aspects. In: German Medical Weekly . Vol. 119, No. 3, January 1994, pp. 74-79, doi: 10.1055 / s-2008-1058664 , PMID 8299513 (review).

Individual evidence

  1. ↑ a b c Glucocorticoid resistance. In: Orphanet (Rare Disease Database).
  2. ↑ GP Chrousos, SD Detera-Wadleigh, M. Karl: Syndromes of glucocorticoid resistance. In: Annals of internal medicine. Vol. 119, No. 11, December 1993, pp. 1113-1124, PMID 8239231 (review).
  3. ^ AC Vingerhoeds, JH Thijssen, F. Schwarz: Spontaneous hypercortisolism without Cushing's syndrome. In: The Journal of clinical endocrinology and metabolism. Vol. 43, No. 5, November 1976, pp. 1128-1133, doi: 10.1210 / jcem-43-5-1128 , PMID 186477 .
  4. ↑ a b Glucocorticoid resistance.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ KM Donner, TP Hiltunen, OA Jänne, T. Sane, K. Kontula: Generalized glucocorticoid resistance caused by a novel two-nucleotide deletion in the hormone-binding domain of the glucocorticoid receptor gene NR3C1. In: European Journal of Endocrinology. Vol. 168, No. 1, January 2013, pp. K9-K18, doi: 10.1530 / EJE-12-0532 , PMID 23076843 .

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