Classic 21-OHD CAH
| Classification according to ICD-10 | |
|---|---|
| E25.0 | Adrenogenital disorders |
| ICD-10 online (WHO version 2019) | |
The traditional 21-OHD CAH (CAH through 21-hydroxylase deficiency) is the most common congenital form of Congenital adrenal hyperplasia as, congenital adrenal hyperplasia called type III.
Synonyms are: adrenal hyperplasia, congenital, 21-hydroxylase deficiency, classical form; English Adrenal Hyperplasia III; 21-hydroxylase deficiency; CYP21 Deficiency; Congenital Adrenal Hyperplasia 1; CAH1; Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
distribution
The frequency is given as 1 in 14,000, inheritance is autosomal - recessive .
root cause
Of the disease are different mutations in the CYP21A2 - gene on chromosome 6 locus p21 based encoding for the 21-hydroxylase which the production of cortisol and aldosterone controlled.
Clinical manifestations
Clinical criteria are:
- early onset of growth spurt with (relative) short stature as adults
- (severe) decreased production of glucocorticoids and mineralocorticoids
- mild to pronounced virilization in the female sex up to intersexuality
Classification
Depending on the severity and clinical key findings, three types can be distinguished:
- Classic 21-OHD CAH, with salt loss , the most severe and with 75% the most common form with manifestations immediately or shortly after birth
- Classic 21-OHD CAH, simply virilizing , less pronounced changes
- Non-classical form , least severe changes, only slight androgen excess; Often manifested in later childhood, often through early pubic hair development . In the female sex normal external genitals , later hirsutism , balding , irregular menstrual cycle and restricted fertility are possible; early beard growth and small testes in males ; there are also completely asymptomatic patients
diagnosis
The diagnosis of a (classic form) can be made even before birth by determining 17-hydroxyprogesterone in the amniotic fluid or beforehand by human genetic testing with chorionic villus sampling .
Differential diagnosis
Other forms of congenital adrenal hyperplasia or adrenogenital syndrome, polycystic ovary syndrome and other diseases with elevated androgens are to be distinguished .
therapy
Prenatally , increased androgen production and the ambivalent genitals can be prevented in female fetuses with dexamethasone administration.
If diagnosed after birth, plastic-surgical correction of the vagina can be carried out in the first year of life .
Lifelong hormone replacement therapy is required because of the adrenal insufficiency , to lower the androgen level and for normal height growth with hydrocortisone as the glucocorticoid and fludrocortisone as the mineralocorticoid.
literature
- E. Carmina, D. Dewailly, HF Escobar-Morreale, F. Kelestimur, C. Moran, S. Oberfield, SF Witchel, R. Azziz: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women. In: Human reproduction update. Vol. 23, No. 5, September 2017, pp. 580-599, doi: 10.1093 / humupd / dmx014 , PMID 28582566 (Review).
- A. Bachelot, V. Grouthier, C. Courtillot, J. Dulon, P. Touraine: MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment. In: European Journal of Endocrinology. Vol. 176, No. 4, April 2017, pp. R167-R181, doi: 10.1530 / EJE-16-0888 , PMID 28115464 (review).
- H. Falhammar, A. Nordenström: Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome. In: Endocrine. Vol. 50, No. 1, September 2015, pp. 32-50, doi: 10.1007 / s12020-015-0656-0 , PMID 26082286 (review).
- AM Bongiovanni, AW Root: The adrenogenital syndrome. In: The New England Journal of Medicine . Vol. 268, June 1963, pp. 1283-9 contd, doi: 10.1056 / NEJM196306062682308 , PMID 13968788 .
Individual evidence
- ↑ a b c d e f Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic form. In: Orphanet (Rare Disease Database).
- ↑ Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency. In: Online Mendelian Inheritance in Man . (English)
- ^ W. Höller, S. Scholz, D. Knorr, F. Bidlingmaier, E. Keller, ED Albert: Genetic differences between the salt-wasting, simple virilizing, and nonclassical types of congenital adrenal hyperplasia. In: The Journal of clinical endocrinology and metabolism. Vol. 60, No. 4, April 1985, pp. 757-763, doi: 10.1210 / jcem-60-4-757 , PMID 2982907 .
- ↑ a b Genetics Home Reference
- ↑ Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic form with salt loss. In: Orphanet (Rare Disease Database).
- ↑ Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic form, simply virilizing. In: Orphanet (Rare Disease Database).
- ^ MI New: An update of congenital adrenal hyperplasia. In: Annals of the New York Academy of Sciences. Vol. 1038, December 2004, pp. 14-43, doi: 10.1196 / annals.1315.009 , PMID 15838095 .
- ↑ CH Houben, SY Tsui, JW Mou, KW Chan, YH Tam, KH Lee: Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital. In: Hong Kong medical journal = Xianggang yi xue za zhi. Vol. 20, No. 6, December 2014, pp. 481-485, doi: 10.12809 / hkmj144227 , PMID 25045882 .
- ^ LG Gomes, G. Madureira, BB Mendonca, TA Bachega: Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency. In: Clinics. Vol. 68, No. 2, 2013, pp. 147–152, PMID 23525308 , PMC 3584273 (free full text)
