CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
| Classification according to ICD-10 | |
|---|---|
| E25.0 | Adrenogenital disorders |
| ICD-10 online (WHO version 2019) | |
The CAH by 3-beta-hydroxysteroid dehydrogenase deficiency is a very rare congenital form of Congenital adrenal hyperplasia as, congenital adrenal hyperplasia called type II. The main characteristics are a lack of glucocorticoids and mineralocorticoids , only low virilization in males ( pseudohermaphroditism ) with micropenis up to perineoscrotal hypospadias , in females normal development or partial virilization.
Other synonyms are: adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase deficiency; 3-beta-HSD deficiency; HSDB
The first description comes from 1962 by the American endocrinologist Alfred M. Bongiovanni.
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .
root cause
The disease are mutations in HSD3B2 - gene on chromosome 1 locus P13.1 based on which the 3β-hydroxysteroid dehydrogenase - isomerase coded.
The disruption of biosynthesis affects both the adrenal glands and the gonads with reduced excretion of cortisol , aldosterone , progesterone , androgen and estrogen .
Classification
Depending on the severity, it can be divided into:
- "Classic form" (pronounced changes)
- "Non-classical form" (milder changes)
Furthermore, forms with or without loss of salt can be delineated.
Clinical manifestations
Clinical criteria are:
- If there is a loss of salt, dehydration and arterial hypotension already in the first few weeks of life
- Manifestation in newborn or early childhood
- Intersex in the female sex
- In the male sex, intersex or female external genitals
In the “non-classical form” in boys micropenis or hypospadias, in girls abnormalities only during puberty or in adulthood with oligomenorrhea , hirsutism or infertility
diagnosis
In the "classic form" there is an abnormal ratio of 17-hydroxypregnenolone to 17-hydroxyprogesterone and of dehydroepiandrosterone to androstenedione .
In the “non-classical form”, a corticotropin stimulation test shows an abnormal accumulation of precursor steroids.
Differential diagnosis
Other forms of congenital adrenal hyperplasia and adrenogenital syndrome are to be distinguished.
therapy
Treatment consists of lifelong hormone replacement therapy .
literature
- J. Simard, AM Moisan, Y. Morel: Congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase / Delta (5) -Delta (4) isomerase deficiency. In: Seminars in reproductive medicine. Vol. 20, No. 3, August 2002, pp. 255-276, doi: 10.1055 / s-2002-35373 , PMID 12428206 (Review) ..
- S. Pang: Congenital adrenal hyperplasia owing to 3 beta-hydroxysteroid dehydrogenase deficiency. In: Endocrinology and metabolism clinics of North America. Vol. 30, No. 1, March 2001, pp. 81-99, vi, PMID 11344940 (Review).
- K. Frank-Raue, G. Junga, F. Raue, S. Korth-Schütz, P. Vecsei, R. Ziegler: 3β-hydroxysteroid dehydrogenase deficiency and 21-hydroxylase deficiency in hirsutism. In: German Medical Weekly . Vol. 114, No. 50, December 1989, pp. 1955-1959, doi: 10.1055 / s-2008-1066853 , PMID 2598791 .
- K. Frank-Raue, F. Raue, S. Korth-Schütz, P. Vecsei, R. Ziegler: Clinic and diagnostics in men with a slight 3β-hydroxysteroid dehydrogenase deficiency. In: German Medical Weekly . Vol. 114, No. 9, March 1989, pp. 331-334, doi: 10.1055 / s-2008-1066597 , PMID 2522036 .
Individual evidence
- ↑ a b c d Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase deficiency. In: Orphanet (Rare Disease Database).
- ↑ a b c E. Rhéaume, J. Simard, Y. Morel, F. Mebarki, M. Zachmann, MG Forest, MI New, F. Labrie: Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. In: Nature genetics. Vol. 1, No. 4, July 1992, pp. 239-245, doi: 10.1038 / ng0792-239 , PMID 1363812 .
- ↑ AM Bongiovanni: The adrenogenital syndrome with deficiency of 3 beta-hydroxysteroid dehydrogenase. In: The Journal of clinical investigation. Vol. 41, November 1962, pp. 2086-2092, doi: 10.1172 / JCI104666 , PMID 13968789 , PMC 291138 (free full text).
- ↑ Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency. In: Online Mendelian Inheritance in Man . (English)
- ↑ a b emedicine, medscape
- ↑ SF Witchel: Nonclassic congenital adrenal hyperplasia. In: Current opinion in endocrinology, diabetes, and obesity. Vol. 19, No. 3, June 2012, pp. 151-158, doi: 10.1097 / MED.0b013e3283534db2 , PMID 22499220 (review).
- ^ New MI, Rapaport R. The adrenal cortex. In: Pediatric Endocrinology. Philadelphia, Pa :. WB Saunders. 1996: 287.
