CAH due to 17-alpha hydroxylase deficiency
| Classification according to ICD-10 | |
|---|---|
| E25.0 | Adrenogenital disorders |
| ICD-10 online (WHO version 2019) | |
The CAH by 17-alpha-hydroxylase deficiency is a very rare congenital form of Congenital adrenal hyperplasia as, congenital adrenal hyperplasia designated Type V.
Main features are glucocorticoid deficiency , hypergonadotropic hypogonadism, and pronounced hypokalemia with arterial hypertension .
Synonyms are: adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency; English Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency; 17-alpha-hydroxylase deficiency
The first description comes from 1966 by the US doctors Edward G. Biglieri, Mary Anne Herron and Norma Brust.
distribution
CAH due to 17-alpha hydroxylase deficiency accounts for about 1% of all congenital adrenal hyperplasias, the frequency is given as 1 - 9 in 1,000,000, the inheritance is autosomal - recessive .
root cause
The disease are mutations in the CYP17A1 - gene on chromosome 10 locus q24.32 basis.
So far, four different mutations in this gene have become known (A174E, V178D, R440C, L465P). The gene codes for the P450C17 enzyme , which acts as a catalyst for two different reactions, on the one hand for the steroid 17α-hydroxylase and on the other hand for the 17α-hydroxyprogesterone aldolase (short: 17,20-lyase).
Classification
Depending on the enzyme disorder present, the following forms can be distinguished:
- Isolated 17,20 lyase deficiency
-
Combined 17-hydroxylase / 17,20-lyase deficiency
- complete failure
- partial defect
Clinical manifestations
Clinical criteria are:
- Steroid and glucocorticoid deficiency
- in the male sex insufficient virilization with intersexuality
- in the female sex, sexual infantilism with primary amenorrhea
- absent or delayed puberty
- High blood pressure and hypokalemia
- Despite the lack of cortisol, there are no typical signs of adrenal insufficiency or crises
Differential diagnosis
Other forms of congenital adrenal hyperplasia and adrenogenital syndrome are to be distinguished.
therapy
Treatment consists of lifelong hormone replacement therapy .
literature
- WA Mula-Abed, FB Pambinezhuth, MK Al-Kindi, NB Al-Busaidi, HN Al-Muslahi, MA Al-Lamki: Congenital Adrenal Hyperplasia due to 17-alpha-hydoxylase / 17,20-lyase Deficiency Presenting with Hypertension and Pseudohermaphroditism : First Case Report from Oman. In: Oman medical journal. Volume 29, number 1, January 2014, pp. 55-59, doi: 10.5001 / omj.2014.12 , PMID 24498484 , PMC 3910417 (free full text).
Individual evidence
- ↑ a b c Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency. In: Orphanet (Rare Disease Database).
- ↑ EG Biglieri, MA Herron, N. Breast: 17-hydroxylation deficiency in man. In: The Journal of clinical investigation. Volume 45, number 12, December 1966, pp. 1946-1954, doi: 10.1172 / JCI105499 , PMID 4288776 , PMC 292880 (free full text).
- ↑ 17.20-lyase deficiency, isolated. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b V. Dhir, N. Reisch, CM Bleicken, J. Lebl, C. Kamrath, HP Black, J. Grötzinger, WG Sippell, FG Riepe, W. Arlt, N. Crown: steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene. In: The Journal of clinical endocrinology and metabolism. Volume 94, Number 8, August 2009, pp. 3058-3064, doi: 10.1210 / jc.2009-0172 , PMID 19454579 .
- ↑ emedicine.medscape
