2014
DOI: 10.1016/j.fertnstert.2013.11.011
|View full text |Cite
|
Sign up to set email alerts
|

Fertility in patients with genetic deficiencies of cytochrome P450c17 (CYP17A1): combined 17-hydroxylase/17,20-lyase deficiency and isolated 17,20-lyase deficiency

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1
1

Citation Types

1
62
1
1

Year Published

2014
2014
2023
2023

Publication Types

Select...
7
2
1

Relationship

0
10

Authors

Journals

citations
Cited by 91 publications
(65 citation statements)
references
References 45 publications
1
62
1
1
Order By: Relevance
“…Marsh and Auchus [2014] reviewed fertility outcomes and yielded only one successful pregnancy in a patient with a partial deficiency after extensive fertility treatments and transfer of donated cryopreserved embryos [Levran et al, 2003]. More recently, a Brazilian compound heterozygous p.Trp406Arg/Pro428Leu patient with residual activity due to the p.Pro428Leu mutation achieved a successful live birth from her own oocytes [Bianchi et al, 2016].…”
Section: Discussionmentioning
confidence: 99%
“…Marsh and Auchus [2014] reviewed fertility outcomes and yielded only one successful pregnancy in a patient with a partial deficiency after extensive fertility treatments and transfer of donated cryopreserved embryos [Levran et al, 2003]. More recently, a Brazilian compound heterozygous p.Trp406Arg/Pro428Leu patient with residual activity due to the p.Pro428Leu mutation achieved a successful live birth from her own oocytes [Bianchi et al, 2016].…”
Section: Discussionmentioning
confidence: 99%
“…The important difference is that at least one mutation of CytB5 results in complete loss of DHEA and its metabolites, while leaving cortisol at completely normal levels and normally responsive to ACTH challenge 57 . The latter finding contrasts with multiple cases of CYP17A1 mutations classified as true lyase activity mutations wherein 17,20 lyase activity of the protein expressed in vitro is reduced to less than 10%, and an associated reduction of 17-hydroxlase activity to ~65 % of control is routinely observed 31; 57; 58 . While circulating cortisol in such subjects would be near normal at rest, the adrenal capacity to respond with additional cortisol synthesis and release on ACTH challenge is usually limited.…”
Section: ) the Search For A Selective 1720 Lyase Inhibitor – Is Itmentioning
confidence: 86%
“…Patients raised as male will retain their testicles, however still frequently suffer from poor fertility (60). Fertility is also impaired in other DSD such as rare forms of CAH, gonadal dysgenesis, and 5-alpha-reductase deficiency (64,65). However, a recent study showed that gonads removed from patients with a variety of DSD including AIS, © Translational Pediatrics.…”
Section: Impaired Fertility Related To Underlying Medical Conditionsmentioning
confidence: 99%