Congenital adrenal hyperplasia
| Classification according to ICD-10 | |
|---|---|
| E25.0 | Adrenogenital disorders |
| ICD-10 online (WHO version 2019) | |
The congenital adrenal hyperplasia or congenital adrenal hyperplasia ( CAH ) is a group of rare congenital diseases with the main features of adrenal hyperplasia with adrenal insufficiency, lack of steroid-forming enzyme having reduced or elevated androgens ( hyperandrogenism ) to congenital adrenal hyperplasia .
The first description comes from the year 1865 by the Neapolitan anatomist Luigi De Creccio, the assignment as a congenital metabolic disorder was made in 1956 by the American endocrinologists Walter R. Eberlein and Alfred M. Bongiovanni.
distribution
The frequency is given as 1 - 9 in 100,000, inheritance is autosomal - recessive . The most common form is the classic 21-OHD CAH and its sub-forms with salt loss or simply virilizing.
classification
Depending on the clinical picture, the underlying mutation and metabolic disorder, the following types can be distinguished:
- Congenital lipoid adrenal hyperplasia due to STAR deficiency , synonym: adrenogenital syndrome type I
- CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency , synonym: adrenogenital syndrome type II
- Classic 21-OHD CAH , synonyms: adrenogenital syndrome type III; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, classic form
- Classic 21-OHD CAH, with salt loss
- Classic 21-OHD CAH, simply virilizing
- CAH due to 11-beta hydroxylase deficiency , synonyms: CYP11B1 deficiency; Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency; Adrenogenital syndrome type IV
- CAH due to 17-alpha-hydroxylase deficiency , synonyms: adrenogenital syndrome type V; Combined 17-hydroxylase / 17,20-lyase deficiency; Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
- Cytochrome POR deficiency , synonyms: adrenal hyperplasia, congenital, due to cytochrome POR deficiency; Adrenal hyperplasia, congenital, due to cytochrome POR deficiency; POR deficiency; PORD
Differential diagnosis
Other causes of adrenal hyperplasia such as tumors of the ovary or the adrenal glands and polycystic ovary syndrome are to be distinguished .
therapy
Treatment consists of lifelong hormone replacement therapy .
literature
- L. Delle Piane, PF Rinaudo, WL Miller: 150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865. In: Endocrinology. Vol. 156, No. 4, April 2015, pp. 1210-1217, doi: 10.1210 / en.2014-1879 , PMID 25635623 .
Individual evidence
- ↑ a b c d Adrenal hyperplasia, congenital. In: Orphanet (Rare Disease Database).
- ↑ spectrum
- ^ L. De Crecchio: Sopra un caso di apparenzi virili in una donna. In: Morgagni Vol. 7, pp. 154-188, 1865
- ^ WR Eberlein, AM Bongiovanni: Congenital adrenal hyperplasia: an inborn error of metabolism. In: Helvetica paediatrica acta. Vol. 11, No. 2, May 1956, pp. 105-117, PMID 13345203 .
