CAH due to 11-beta hydroxylase deficiency

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Classification according to ICD-10
E25.0 Adrenogenital disorders
ICD-10 online (WHO version 2019)

The CAH by 11-beta-hydroxylase deficiency is a very rare congenital form of Congenital adrenal hyperplasia as, congenital adrenal hyperplasia designated type IV. The main characteristics are glucocorticoid deficiency , hyperandrogenemia , arterial hypertension and virilization in the female sex.

Further synonyms are: CYP11B1 deficiency; CAH due to 11-beta hydroxylase deficiency; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency

The first description comes from 1956 by the American endocrinologists Walter R. Eberlein and Alfred M. Bongiovanni.

distribution

The disease accounts for about 5 to 8% of congenital adrenal hyperplasias. The frequency is given as 1 in 100,000–200,000 live births; inheritance is autosomal - recessive .

root cause

Of the disease are mutations in the CYP11B1 - gene on chromosome 8 locus q24.3 based on which to a lack of steroid-11β-hydroxylase with decreased secretion of cortisol and increased precursors of glucocorticoids and mineralocorticoids leads to hypertension.

Clinical manifestations

Clinical criteria are:

Differential diagnosis

Other forms of congenital adrenal hyperplasia and adrenogenital syndrome are to be distinguished.

therapy

Treatment consists of lifelong hormone replacement therapy .

literature

  • A. Khattab, S. Haider, A. Kumar et al .: Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. In: Proceedings of the National Academy of Sciences . Volume 114, number 10, March 2017, pp. E1933 – E1940, doi: 10.1073 / pnas.1621082114 , PMID 28228528 , PMC 5347606 (free full text).
  • MA Nour, D. Pacaud: Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia. In: International journal of pediatric endocrinology. Volume 2015, number 1, 2015, p. 12, doi: 10.1186 / s13633-015-0008-0 , PMID 25983757 , PMC 4432823 (free full text).
  • N. Reisch, W. Högler, S. Parajes, IT Rose, V. Dhir, J. Götzinger, W. Arlt, N. Krone: A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism . In: The Journal of clinical endocrinology and metabolism. Volume 98, Number 10, October 2013, pp. E1620 – E1625, doi: 10.1210 / jc.2013-1306 , PMID 23940125 .
  • SA Wudy, J. Homoki, UA Wachter, WM Teller: Diagnostics of the adrenogenital syndrome of the 11β-hydroxylase deficiency type using gas chromatographic-mass spectrometric urinary steroid profile analysis. In: German Medical Weekly . Vol. 122, number 1-2, January 1997, pp. 3-10, doi: 10.1055 / s-2008-1047569 , PMID 9064231 .

Individual evidence

  1. ↑ a b c d Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency. In: Orphanet (Rare Disease Database).
  2. ↑ WR Eberlein, AM Bongiovanni: Plasma and urinary corticosteroids in the hypertensive form of congenital adrenal hyperplasia. In: The Journal of biological chemistry. Volume 223, Number 1, November 1956, pp. 85-94, PMID 13376579 .
  3. ↑ Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency.  In: Online Mendelian Inheritance in Man . (English)

Web links