Isolated 17,20-lyase deficiency
| Isolated 17,20-lyase deficiency | |
|---|---|
| Other names | 46,XY disorder of sex development due to isolated 17,20-lyase deficiency |
 | |
| This condition is inherited via an autosomal recessive manner | |
Isolated 17,20-lyase deficiency (ILD), also called isolated 17,20-desmolase deficiency, is a rare
secondary sexual characteristics, resulting in a somewhat childlike appearance in adulthood (if left untreated).[1][2][3][4]
Unlike the case of
combined 17α-hydroxylase/17,20-lyase deficiency, isolated 17,20-lyase deficiency does not affect glucocorticoid production (or mineralocorticoid levels), and for that reason, does not result in adrenal hyperplasia or hypertension.[1][3]
Symptoms and signs
The
Cause
Isolated 17,20-lyase deficiency is a rare disorder caused by
17α-hydroxylase.[2][4][6][7] Isolated 17,20 lyase deficiency is a rare disease with only a small number of confirmed reports due to mutations in the CYP17A1 gene.[8][9][7]
Observed
precursor availability for androgen and estrogen synthesis), very low or fully absent peripheral concentrations of androgens such as dehydroepiandrosterone (DHEA), androstenedione, and testosterone and estrogens such as estradiol (due to the lack of 17,20-lyase activity, which is essential for their production), and high serum concentrations of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH) (due to a lack of negative feedback on account of the lack of sex hormones).[5][10]
Diagnosis
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Treatment
Males and females may be treated with
GnRH analogues may be used to control high FSH and LH levels if they are unresponsive to estrogens.[10]
See also
- Cytochrome b5 deficiency
- Inborn errors of steroid metabolism
- Disorders of sexual development
- ambiguous genitalia
- Combined 17α-hydroxylase/17,20-lyase deficiency
- LH insensitivities
- CYP17A1 (17α-hydroxylase/17,20-lyase)
- Sex hormone (androgen and estrogen)
References
- ^ a b c "Chapter 11 – 46,XY Disorders of Sexual Development". Pediatric Endocrinology. Archived from the original on 21 September 2010. Retrieved 25 May 2012.
- ^ ISBN 978-1-58829-202-5. Retrieved 25 May 2012.
- ^ ISBN 978-0-89603-406-8.
- ^ PMID 22072737.[permanent dead link]
- ^ PMID 15866602.
- ISBN 978-0-415-27878-2. Retrieved 25 May 2012.
- ^ PMID 29710837.
- S2CID 10067335.
- PMID 12466376.
- ^ PMID 14747197.
External links