Testosterone 17β dehydrogenase deficiency
| Classification according to ICD-10 | |
|---|---|
| E29.1 | Testicular hypofunction |
| ICD-10 online (WHO version 2019) | |
The testosterone-17β-dehydrogenase deficiency is a very rare congenital disease with pseudohermaphroditism (failure of sexual development) in the male due to lack of testosterone-17β-dehydrogenase , or more precisely of the isoenzyme 3 of the 17-beta-hydroxysteroid dehydrogenase (17betaHSD III) . This deficiency is the most common form of testosterone biosynthesis defect .
Synonyms are: 17-keto reductase deficiency; 17-ketosteroid reductase deficiency; 17-beta-hydroxysteroid dehydrogenase 3 deficiency; Pseudohermaphroditism, male, due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
The name refers to the first authors of the first description from 1971 by the French endocrinologist JM Saez and colleagues.
distribution
The frequency is given as about 1 in 147,000 newborns , in the Arab population of the Gaza Strip the incidence is 1 in 200-3,000 people.
Inheritance is autosomal - recessive .
root cause
The disease are mutations in HSD17B3 - gene on chromosome 9 locus q22.32 based on which of the three isoenzyme testosterone 17β-dehydrogenase encodes the test the conversion of androstenedione to testosterone catalyzed .
Clinical manifestations
Clinical criteria are:
- in the male sex due to the testosterone deficiency female or intersexual external genitalia, blind ending vaginal pocket
- Abnormal position of the testicle on both sides with normal internal urinary and reproductive systems
- Prostate and derivatives of the Müller duct not created
- signs of virilization and gynecomastia during puberty
- infertility
- Hirsutism
diagnosis
In the blood serum , androstenedione is increased and testosterone decreased, often only detectable before puberty after stimulation with human chorionic gonadotropin .
The disease is often only recognized during puberty, when the male sex raised as a girl develops hirsutism and amenorrhea , or when gynecomastia develops.
literature
- A. Alikaşifoğlu, D. Vurallı, O. Hiort, N. Gönç, A. Özön, N. Kandemir: Severe Undervirilization in a 46, XY Case Due to a Novel Mutation in HSD17B3 Gene. In: Journal of clinical research in pediatric endocrinology. Vol. 7, No. 3, September 2015, pp. 249-252, doi: 10.4274 / jcrpe.2069 , PMID 26831562 , PMC 4677563 (free full text).
- N. Phelan, EL Williams, S. Cardamone, M. Lee, SM Creighton, G. Rumsby, GS Conway: Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilized 46, XY disorders of sex development. In: European Journal of Endocrinology. Vol. 172, No. 6, June 2015, pp. 745-751, doi: 10.1530 / EJE-14-0994 , PMID 25740850 .
Individual evidence
- ↑ a b c d Disorder of sex development 46, XY, due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency. In: Orphanet (Rare Disease Database).
- ↑ BB Mendonca, M. Inacio, IJ Arnhold, EM Costa, W. Bloise, RM Martin, FT Denes, FA Silva, S. Andersson, A. Lindqvist, JD Wilson: Male pseudohermaphroditism due to 17 beta-hydroxysteroid dehydrogenase 3 deficiency. Diagnosis, psychological evaluation, and management. In: Medicine. Vol. 79, No. 5, September 2000, pp. 299-309, PMID 11039078 .
- ↑ JM Saez, E. De Peretti, AM Morera, M. David, J. Bertrand: Familial male pseudohermaphroditism with gynecomastia due to a testicular 17-ketosteroid reductase defect. I. Studies in vivo. In: The Journal of clinical endocrinology and metabolism. Vol. 32, No. 5, May 1971, pp. 604-610, doi: 10.1210 / jcem-32-5-604 , PMID 4252809 .
- ^ Genetics Home Reference
- ↑ Pseudohermaphroditism, male, with gynecomastia. In: Online Mendelian Inheritance in Man . (English)
