CAH due to 11-beta hydroxylase deficiency
Classification according to ICD-10 | |
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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:
- If left untreated, increased growth rate with acceleration of skeletal maturity and later short stature
- virilization in the female sex
- Pseudo-precocious puberty , hypertension, and risk of adrenal crisis in both sexes
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
- ↑ a b c d Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency. In: Orphanet (Rare Disease Database).
- ↑ 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 .
- ↑ Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency. In: Online Mendelian Inheritance in Man . (English)