Cargando…

PSAT047 Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia

BACKGROUND: Congenital Adrenal Hyperplasia (CAH) is classically attributed to defective 21-hydroxylase, caused by mutations in CYP21A2, impairing the production of mineralocorticoids and glucocorticoids and subsequently shifting steroidogenesis towards androgen production. This produces a classic co...

Descripción completa

Detalles Bibliográficos
Autores principales:	Frontera, Eric, Brown, Joshua J, Ghareebian, Hagop, Mariash, Cary
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2022
Materias:	Genetics & Development
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9625241/ http://dx.doi.org/10.1210/jendso/bvac150.959

Ejemplares similares

Dual Heterozygous Mutations in CYP21A2 and CYP11B1 in a Case of Nonclassic Congenital Adrenal Hyperplasia
por: Frontera, Eric D., et al.
Publicado: (2022)

Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche
por: Kolahdouz, Mahsa, et al.
Publicado: (2016)

Nonclassic Congenital Adrenal Hyperplasia
por: Witchel, Selma Feldman, et al.
Publicado: (2010)

Premature Moustache As Presenting Symptom of Nonclassic Congenital Adrenal Hyperplasia due to 2 Uncommon Mutations of the CYP21A2 Gene
por: Massa, Guy, et al.
Publicado: (2011)

Nonclassical Congenital Adrenal Hyperplasia and Pregnancy
por: Cuhaci, Neslihan, et al.
Publicado: (2015)

COVID-19-Induced Graves’ Disease
por: Ghareebian, Hagop, et al.
Publicado: (2022)

Compound heterozygosity for a whole gene deletion and p.R124C mutation in CYP21A2 causing nonclassic congenital adrenal hyperplasia
por: Nasir, Hamza, et al.
Publicado: (2018)

Nonclassic congenital adrenal hyperplasia misdiagnosed as Turner syndrome
por: Mishra, Vineet V., et al.
Publicado: (2015)

Novel variants of CYP21A2 in Vietnamese patients with congenital adrenal hyperplasia
por: Chi, Dung V., et al.
Publicado: (2019)

Variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2
por: Prado, Mayara J., et al.
Publicado: (2022)

Serum 21-Deoxycortisol for Diagnosis of Nonclassic Congenital Adrenal Hyperplasia in Women With Androgen Excess
por: Ng, Jennifer L, et al.
Publicado: (2023)

Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia
por: Marumudi, Eunice, et al.
Publicado: (2012)

Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene
por: Rabbani, Bahareh, et al.
Publicado: (2011)

CYP21A2 mutations in pediatric patients with congenital adrenal hyperplasia in Costa Rica
por: Umaña-Calderón, Andrés, et al.
Publicado: (2021)

Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera
por: Lao, Qizong, et al.
Publicado: (2023)

SUN-026 Unusual Presentation of Aromatase Excess Syndrome
por: Al Sabie, Farah Laith, et al.
Publicado: (2020)

Genotype-phenotype correlations in children and adolescents with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency
por: Dörr, Helmuth-Günther, et al.
Publicado: (2020)

Bilateral testicular adrenal rest tumors in a patient with nonclassical congenital adrenal hyperplasia
por: Roberts, Erica C, et al.
Publicado: (2021)

CYP21A2 Gene Mutations in Congenital Adrenal Hyperplasia: Genotype−phenotype correlation in Turkish children
por: Baş, Firdevs, et al.
Publicado: (2009)

Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
por: Al-Obaidi, Ruqayah G. Y., et al.
Publicado: (2016)

Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia
por: Brønstad, Ingeborg, et al.
Publicado: (2014)

SUN-204 Case of Non-Classic Congenital Adrenal Hyperplasia with Compound CYP21A2 Mutations Combined with CYP11B1 Mutation
por: Salameh, Rami, et al.
Publicado: (2020)

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians
por: Hannah-Shmouni, Fady, et al.
Publicado: (2017)

Premature pubarche in an infant: nonclassical congenital adrenal hyperplasia or mini-puberty variant?
por: Grob, Francisca, et al.
Publicado: (2017)

PSAT028 Congenital Adrenal Hyperplasia with Adrenal Myelolipoma: Gender Identity and Choice of Therapy
por: Kasina, Siva Kumar, et al.
Publicado: (2022)

A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form
por: Concolino, Paola, et al.
Publicado: (2009)

Comprehensive Genetic Testing of CYP21A2: A Retrospective Analysis in Patients with Suspected Congenital Adrenal Hyperplasia
por: Nan, Madalina Nicoleta, et al.
Publicado: (2021)

SAT275 Generation And Characterization Of A Humanized CYP21A2 Mouse Model For Congenital Adrenal Hyperplasia
por: Huebner, Angela, et al.
Publicado: (2023)

Screening for Nonclassic Congenital Adrenal Hyperplasia in the Era of Liquid Chromatography-Tandem Mass Spectrometry
por: Chesover, Alexander D, et al.
Publicado: (2019)

Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines
por: Greene, Christopher N., et al.
Publicado: (2014)

OR25-01 Durable CYP21A2 Gene Therapy in Non-Human Primates for Treatment of Congenital Adrenal Hyperplasia
por: Eclov, Rachel J, et al.
Publicado: (2020)

The Spectrum of CYP21A2 Gene Mutations from 16 Families of Congenital Adrenal Hyperplasia: Genotype-Phenotype Correlation
por: Sridhar, Subbiah, et al.
Publicado: (2021)

RF21 | PSAT93 Improvement of Final Height in Congenital Adrenal Hyperplasia Patients Treated With Recombinant Growth Hormone
por: Costa, Fernanda C, et al.
Publicado: (2022)

Prevalence of Nonclassic Congenital Adrenal Hyperplasia in Turkish Children Presenting with Premature Pubarche, Hirsutism, or Oligomenorrhoea
por: Binay, Cigdem, et al.
Publicado: (2014)

A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia: Molecular genetics report from Saudi Arabia
por: Mohamed, Sarar, et al.
Publicado: (2015)

Differences in hormonal levels between heterozygous CYP21A2 pathogenic variant carriers, non-carriers, and females with non-classic congenital hyperplasia
por: Silva, Rita Santos, et al.
Publicado: (2022)

Mutation spectrum of CYP21A2 and correlation between genotype – phenotype in 81 Vietnamese patients with congenital adrenal hyperplasia due to 21-hydroxylase defficiency
por: Dung, Vu Chi, et al.
Publicado: (2013)

PSAT019 A Rare Case of Massive Bilateral Adrenal Myelolipomas in a Patient with Congenital Adrenal Hyperplasia
por: Arasu, Aarthi, et al.
Publicado: (2022)

Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review
por: Ishii, Tomohiro, et al.
Publicado: (2019)

Clinical profile and inheritance pattern of CYP21A2 gene mutations in patients with classical congenital adrenal hyperplasia from 10 families
por: Yadav, Sarita, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_picqj645ja04rgeue3d681u5pi