Classic 21-OHD CAH, simply virilizing
| Classification according to ICD-10 | |
|---|---|
| E25.0 | Adrenogenital disorders |
| ICD-10 online (WHO version 2019) | |
The classic 21-OHD CAH, easy virilisierend is a rare congenital form of the classical 21-OHD CAH , a form of Congenital adrenal hyperplasia and Androgenitalen syndrome properly.
The main characteristics compared to the classic 21-OHD CAH, with salt loss, are less pronounced changes with intersexuality in women due to virilization , premature pseudopuberty, decreased cortisol - with normal aldosterone levels and therefore no salt loss.
Synonym : adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic form, simply virilizing
distribution
The frequency is given as 1 to 9 in 100,000, this form makes up about 25% of the 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. This mutation disrupts normal aldosterone synthesis and cortisol synthesis.
Clinical manifestations
Clinical criteria are:
- Manifestation in newborn or early childhood
- Virilization existing from birth in the female sex to intersexuality , mostly underdeveloped vagina
- decreased production of glucocorticoids without loss of salt, with risk of adrenal crisis
- early onset of growth spurt (with pseudopuberty) and short stature as adults
diagnosis
The diagnosis can be made even before birth by determining 17-hydroxyprogesterone in the amniotic fluid or beforehand by means of a human genetic examination with a chorionic villus sampling .
The concentration of renin in the blood plasma is significantly higher with normal aldosterone, which distinguishes it from the form with salt loss .
literature
- J. Rohayem, F. Tüttelmann, C. Mallidis, E. Nieschlag, S. Kliesch, M. Zitzmann: Restoration of fertility by gonadotropin replacement in a man with hypogonadotropic azoospermia and testicular adrenal rest tumors due to untreated simple virilizing congenital adrenal hyperplasia. In: European Journal of Endocrinology. Vol. 170, No. 4, April 2014, pp. K11-K17, doi: 10.1530 / EJE-13-0449 , PMID 24394723 .
- HL Claahsen-van der Grinten, K. Noordam, GF Borm, BJ Otten: Absence of increased height velocity in the first year of life in untreated children with simple virilizing congenital adrenal hyperplasia. In: The Journal of clinical endocrinology and metabolism. Vol. 91, No. 4, April 2006, pp. 1205-1209, doi: 10.1210 / jc.2005-1701 , PMID 16464952 .
Individual evidence
- ↑ a b c d Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic form, simply virilizing. In: Orphanet (Rare Disease Database).
- ↑ M. Taboas, C. Fernández, S. Belli, N. Buzzalino, L. Alba, L. Dain: Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient. In: Case reports in genetics. Volume 2013, 2013, p. 143781, doi: 10.1155 / 2013/143781 , PMID 23936690 , PMC 3722967 (free full text).
- ↑ 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)
