Aromatase excess syndrome
| Classification according to ICD-10 | |
|---|---|
| E30.1 | Premature puberty [pubertas praecox] |
| ICD-10 online (WHO version 2019) | |
The aromatase excess syndrome is a very rare congenital disease with the main feature of a hyperestrogenism and thereby caused premature puberty ( precocious puberty ).
Synonyms are: AEXS; Familial hyperestrogenism; Prepubertal gynecomastia , hereditary
distribution
The frequency is given as less than 1 in 1,000,000, so far about 20 people have been reported. The inheritance is autosomal dominant .
root cause
Hyperestrogenemia is caused by an abnormally increased activity of aromatase due to a genetic change. Of the disease are mutations in the CYP19A1 - gene on chromosome 15 locus q21.2 based, which for the aromatase encoding ( enzyme for the conversion of testosterone to estradiol or of androstenedione to estrone ).
Other mutations in this gene can lead to aromatase deficiency .
Clinical manifestations
Clinical criteria are:
- Manifestation in childhood and adolescence
- in males, premature puberty development, gynecomastia, growth acceleration with short stature and possibly slight hypogonadotropic hypogonadism
- In women, if at all, puberty can develop prematurely.
- normal fertility
history
Congenital gynecomastia was reported by Torsten Ljungberg as early as 1960, and in 1962 by Edwar E. Wallach and Cleso-Ramon Garcia
Excess aromatization was described in 1977 by David L. Hemsell, Clare D. Edman, James F. Marks, Pentti K. Siiteri, and Paul C. MacDonald.
literature
- M. Shozu, M. Fukami, T. Ogata: Understanding the pathological manifestations of aromatase excess syndrome: lessons for clinical diagnosis. In: Expert review of endocrinology & metabolism. Volume 9, number 4, July 2014, pp. 397-409, doi: 10.1586 / 17446651.2014.926810 , PMID 25264451 , PMC 4162655 (free full text) (review).
- KA Metwalley, HS Farghaly: Aromatase excess syndrome presenting with prepubertal gynecomastia in an Egyptian child with type 1 neurofibromatosis. In: Indian journal of human genetics. Volume 19, number 4, October 2013, pp. 472-474, doi: 10.4103 / 0971-6866.124379 , PMID 24497716 , PMC 3897146 (free full text).
- M. Fukami, M. Shozu, T. Ogata: Molecular bases and phenotypic determinants of aromatase excess syndrome. In: International journal of endocrinology. Volume 2012, 2012, p. 584807, doi: 10.1155 / 2012/584807 , PMID 22319526 , PMC 3272822 (free full text).
Individual evidence
- ↑ a b c Aromatase excess syndrome. In: Orphanet (Rare Disease Database).
- ^ Aromatase excess syndrome. In: Online Mendelian Inheritance in Man . (English)
- ↑ T. Ljungberg: Hereditary gynecomastia. In: Acta medica Scandinavica. Volume 168, December 1960, pp. 371-379, PMID 13762869 .
- ^ EE Wallach, CR Garcia: Familial gynecomastia without hypogonadism: a report of three cases in one family. In: The Journal of Clinical Endocrinology and Metabolism . Volume 22, December 1962, pp. 1201-1206, doi: 10.1210 / jcem-22-12-1201 , PMID 13998571 .
- ↑ DL Hemsell, CD Edman, JF Marks, PK Siiteri, PC MacDonald: Massive extranglandular aromatization of plasma androstenedione resulting in feminization of a prepubertal boy. In: The Journal of clinical investigation. Volume 60, number 2, August 1977, pp. 455-464, doi: 10.1172 / JCI108796 , PMID 874104 , PMC 372388 (free full text).
