Classic 21-OHD CAH, with salt loss
| Classification according to ICD-10 | |
|---|---|
| E25.0 | Adrenogenital disorders |
| ICD-10 online (WHO version 2019) | |
The classic 21-OHD CAH with salt loss is the most common congenital form of the classical 21-OHD CAH , a form of Congenital adrenal hyperplasia and Androgenitalen syndrome properly. The main characteristics are virilization in the female sex, low cortisol levels (hypocortisolism), premature pseudopuberty and aldosterone deficiency with the predominant salt loss of the kidneys.
distribution
The frequency is given as 1 to 9 in 100,000, this form makes up 75% of the cases of classic 21-OHD CAH. Inheritance is autosomal - recessive .
root cause
The disease are mutations in the CYP21A2 - gene on chromosome 6 locus p21 based encoding the 21-hydroxylase, the production of cortisone and aldosterone controlled.
Clinical manifestations
Clinical criteria are:
- Manifestation in newborn or early childhood
- Virilization existing from birth in the female sex to intersexuality
- (Strong) reduced production of glucocorticoids and mineralocorticoids with salt loss, failure to thrive , risk of hypovolemia up to hypovolemic shock
- early onset of growth spurt (with pseudopuberty) and short stature as adults
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 . The concentration of renin in the blood plasma is markedly increased with simultaneously decreased aldosterone. The ratio of aldosterone to plasma renin allows it to be differentiated from the simple virilizing form .
Differential diagnosis
Other forms of congenital adrenal hyperplasia or adrenogenital syndrome, polycystic ovary syndrome and other diseases with elevated androgens are to be distinguished .
literature
- H. Kırmızıbekmez, RG Yesiltepe Mutlu, S. Moralıoğlu, A. Tellioğlu, A. Cerrah Celayir: Concurrence of Meningomyelocele and Salt-Wasting Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. In: Case reports in pediatrics. Vol. 2015, 2015, p. 196374, doi: 10.1155 / 2015/196374 , PMID 25685584 , PMC 4313520 (free full text).
- 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).
- BH Oh, JK Park, YM Choi, IM Yang, YS Kim, YK Choi: Prenatal diagnosis of a heterozygote of salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency by genetic linkage analysis. In: Journal of Korean medical science. Vol. 3, No. 2, June 1988, pp. 73-77, doi: 10.3346 / jkms.1988.3.2.73 , PMID 3267357 , PMC 3053666 (free full text).
Individual evidence
- ↑ a b c d e Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic form with salt loss. In: Orphanet (Rare Disease Database).
- ↑ Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency. In: Online Mendelian Inheritance in Man . (English)
- ^ Genetics Home Reference
- ↑ S. Nimkarn, MI New: Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. In: Nature clinical practice. Endocrinology & metabolism. Vol. 3, No. 5, May 2007, pp. 405-413, doi: 10.1038 / ncpendmet0481 , PMID 17452967 (Review)
