Cargando…

The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series

CONTEXT: 17α-Hydroxylase/17,20-lyase deficiency (17OHD) caused by mutations in the CYP17A1 gene is a rare form of congenital adrenal hyperplasia typically characterised by cortisol deficiency, mineralocorticoid excess and sex steroid deficiency. OBJECTIVE: To examine the phenotypic spectrum of 17OHD...

Descripción completa

Detalles Bibliográficos
Autores principales:	Sun, Min, Mueller, Jonathan W, Gilligan, Lorna C, Taylor, Angela E, Shaheen, Fozia, Noczyńska, Anna, T’Sjoen, Guy, Denvir, Louise, Shenoy, Savitha, Fulton, Piers, Cheetham, Timothy D, Gleeson, Helena, Rahman, Mushtaqur, Krone, Nils P, Taylor, Norman F, Shackleton, Cedric H L, Arlt, Wiebke, Idkowiak, Jan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2021
Materias:	Clinical Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8558848/ https://www.ncbi.nlm.nih.gov/pubmed/34524979 http://dx.doi.org/10.1530/EJE-21-0152

Ejemplares similares

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency
por: Idkowiak, Jan, et al.
Publicado: (2012)

New insights on hyperglycemia in 17-hydroxylase/17,20-lyase deficiency
por: Xu, Lingling, et al.
Publicado: (2022)

Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation
por: Lee, Hae In, et al.
Publicado: (2021)

17α-hydroxylase/17,20-lyase deficiency in congenital adrenal hyperplasia: A case report
por: Xu, Simiao, et al.
Publicado: (2017)

17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature
por: Maheshwari, Madhur, et al.
Publicado: (2022)

Dexamethasone application for in vitro fertilisation in non-classic 17-hydroxylase/17,20-lyase-deficient women
por: Yang, Xiu-Li, et al.
Publicado: (2022)

Limited Expression of Cytochrome P450 17α-Hydroxylase/17,20-Lyase in Prostate Cancer Cell Lines
por: Jeong, Chang Wook, et al.
Publicado: (2011)

Untreated Congenital Adrenal Hyperplasia with 17-α Hydroxylase/17,20-Lyase Deficiency Presenting as Massive Adrenocortical Tumor
por: Lee, Su Jin, et al.
Publicado: (2015)

Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease
por: Huang, Jiaming, et al.
Publicado: (2022)

THU622 Spontaneous Pregnancy In Isolated 17,20-lyase Deficiency
por: de Oliveira, Julia Martins, et al.
Publicado: (2023)

Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency
por: Mo, Eun Yeong, et al.
Publicado: (2018)

Impaired 17,20-Lyase Activity in Male Mice Lacking Cytochrome b(5) in Leydig Cells
por: Sondhi, Varun, et al.
Publicado: (2016)

Hormonal impact of the 17α-hydroxylase/C(17,20)-lyase inhibitor abiraterone acetate (CB7630) in patients with prostate cancer
por: O'Donnell, A, et al.
Publicado: (2004)

17-hydroxylase/17,20-lyase deficiency due to a R96Q mutation causing hypertension and poor breast development
por: Deeb, Asma, et al.
Publicado: (2015)

Effects of new 17α-hydroxylase/C(17,20)-lyase inhibitors on LNCaP prostate cancer cell growth in vitro and in vivo
por: Grigoryev, D N, et al.
Publicado: (1999)

17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports
por: Zhang, Dai, et al.
Publicado: (2021)

Full-term live birth in a woman with 17α-hydroxylase and 17,20-lyase deficiency with assisted reproductive technology: a case report
por: Xi, Sisi, et al.
Publicado: (2023)

46,XY Disorder of Sex Development Caused by 17α-Hydroxylase/17,20-Lyase Deficiency due to Homozygous Mutation of CYP17A1 Gene: Consequences of Late Diagnosis
por: Papi, Giampaolo, et al.
Publicado: (2018)

A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site
por: Habib, Ashkan, et al.
Publicado: (2021)

Endocrine profiles and cycle characteristics of infertile 17α-hydroxylase/17,20-lyase Deficiency Patients undergoing assisted Reproduction Treatment: a retrospective cohort study
por: Pan, Ping, et al.
Publicado: (2023)

A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency
por: Saltarelli, Maria Alessandra, et al.
Publicado: (2022)

A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene
por: Camats, Núria, et al.
Publicado: (2015)

An Asian case of combined 17α-hydroxylase/17,20-lyase deficiency due to homozygous p.R96Q mutation: A case report and review of the literature
por: Liao, Qian, et al.
Publicado: (2022)

Delayed Diagnosis of a 17-Hydroxylase/17,20-Lyase Deficient Patient Presenting as a 46,XY Female: A Low Normal Potassium Level Can Be an Alerting Diagnostic Sign
por: Çamtosun, Emine, et al.
Publicado: (2017)

Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility
por: Leung, Mei Tik, et al.
Publicado: (2019)

A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency
por: Chen, Hong, et al.
Publicado: (2019)

Mechanism of the Dual Activities of Human CYP17A1 and Binding to Anti-Prostate Cancer Drug Abiraterone Revealed by a Novel V366M Mutation Causing 17,20 Lyase Deficiency
por: Fernández-Cancio, Mónica, et al.
Publicado: (2018)

A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes
por: Dai, Li-Zhen, et al.
Publicado: (2022)

Study of RNA interference inhibiting rat ovarian androgen biosynthesis by depressing 17alpha-hydroxylase/17, 20-lyase activity in vivo
por: Li, Yi, et al.
Publicado: (2009)

Functional Analysis of Steroidogenic Factor 1 (sf-1) and 17α-Hydroxylase/Lyase (cyp17α) Promoters in Yellow Catfish Pelteobagrus fulvidraco
por: Lv, Wu-Hong, et al.
Publicado: (2020)

Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review
por: Yin, Min, et al.
Publicado: (2022)

SAT336 A Successful Ovulation Induction And Embryo Generation In A Woman With P450-oxidoreductase Deficiency From Mutation G539R, Which Preferentially Impairs 17,20-lyase Activity
por: Charoensri, Suranut, et al.
Publicado: (2023)

Abstract: 17.20 Ligasure Impact Reduces Blood Loss, Complications And Re-Operation Occurrence In Abdominoplasty: A Comparative Study
por: Kangas, Riikka, et al.
Publicado: (2017)

17,20S(OH)(2)pD Can Prevent the Development of Skin Fibrosis in the Bleomycin-Induced Scleroderma Mouse Model
por: Brown Lobbins, Monica L., et al.
Publicado: (2021)

Characterization of a bifunctional alginate lyase as a new member of the polysaccharide lyase family 17 from a marine strain BP-2
por: Huang, Guiyuan, et al.
Publicado: (2019)

CERN Bulletin Issue No. 17-17/2020
Publicado: (2020)

Outbreak of Norovirus GII.P17-GII.17 in the Canadian Province of Nova Scotia
por: LeBlanc, Jason J., et al.
Publicado: (2016)

CYP17A1 Intron Mutation Causing Cryptic Splicing in 17α-Hydroxylase Deficiency
por: Hwang, Daw-Yang, et al.
Publicado: (2011)

A case of 17 alpha-hydroxylase deficiency
por: Kim, Sung Mee, et al.
Publicado: (2015)

Modulation by 17,20S(OH)(2)pD of Fibrosis-Related Mediators in Dermal Fibroblast Lines from Healthy Donors and from Patients with Systemic Sclerosis
por: Brown Lobbins, Monica L., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_kipdrc071ru225u8f8arbm03r0