Cargando…

Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

BACKGROUND: 11β-hydroxylase deficiency (11OHD) is extremely rare, and reports of non-classical 11OHD are even rarer. Non-classical 11OHD usually presents as premature adrenarche, hyperandrogenism, menstrual disorders, and hypertension. Because the symptoms of non-classical 11OHD are mild, delayed di...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Dongdong, Wang, Jiahui, Tong, Tong, Yang, Qing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139905/ https://www.ncbi.nlm.nih.gov/pubmed/30223866 http://dx.doi.org/10.1186/s13048-018-0450-8

Ejemplares similares

Classical 11β-Hydroxylase Deficiency Caused by a Novel Homozygous Mutation: A Case Study and Literature Review
por: Alsanea, Mohammad N, et al.
Publicado: (2022)

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report
por: Yuan, Xianxian, et al.
Publicado: (2018)

Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree
por: Liu, Jia, et al.
Publicado: (2018)

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

A Greek girl with 11β-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene
por: Marakaki, Chrisanthi, et al.
Publicado: (2015)

Are Current Normal Values of 11DOC Useful for Diagnosis of Non Classical Congenital Adrenal Hyperplasia Due to 11β- Hydroxylase Deficiency?
por: Barash, Galia, et al.
Publicado: (2021)

Clinical and Molecular Analysis of Four Patients With 11β-Hydroxylase Deficiency
por: Zhou, Qiaoli, et al.
Publicado: (2020)

Mild dopa-responsive dystonia in heterozygous tyrosine hydroxylase mutation carrier: Evidence of symptomatic enzyme deficiency?
por: Bally, Julien F., et al.
Publicado: (2020)

PB2660: HEREDITARY COAGULATION FACTOR FVII DEFICIENCY CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS
por: Zhou, Rongfu, et al.
Publicado: (2023)

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees
por: Yang, Bin, et al.
Publicado: (2018)

A Novel Mutation in the CYP11B1 Gene Causes Steroid 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia with Reversible Cardiomyopathy
por: Alqahtani, Mohammad A., et al.
Publicado: (2015)

Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient
por: Ozbas, Burak, et al.
Publicado: (2023)

Height augmentation in 11β-hydroxylase deficiency congenital adrenal hyperplasia
por: Nour, Munier A, et al.
Publicado: (2015)

SUN-389 Consequences of Late Diagnosis of 11β-Hydroxylase Deficiency
por: Sabinkar, Gayatri, et al.
Publicado: (2019)

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)

MCAD deficiency caused by compound heterozygous pathogenic variants in ACADM
por: Nohara, Fumikatsu, et al.
Publicado: (2022)

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report
por: Charnwichai, Pattaranatcha, et al.
Publicado: (2016)

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
por: Nowotny, Hanna, et al.
Publicado: (2022)

Phenotype of patients with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
por: Dung, Vu Chi, et al.
Publicado: (2015)

Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review
por: Zhang, Zhaorui, et al.
Publicado: (2022)

Rare compound heterozygous mutations in gene MSH6 cause constitutive mismatch repair deficiency syndrome
por: Ling, Chao, et al.
Publicado: (2018)

Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency
por: Wang, Lan, et al.
Publicado: (2020)

Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency
por: Dumic, Katja, et al.
Publicado: (2014)

Primary microcephaly caused by novel compound heterozygous mutations in ASPM
por: Okamoto, Nobuhiko, et al.
Publicado: (2018)

Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review
por: Maimaitiming, Jimilanmu, et al.
Publicado: (2021)

Functional ovarian cysts in a neonate with classical 21-hydroxylase deficiency: case report and review of the literature
por: Iwayama, Hideyuki, et al.
Publicado: (2013)

Huge ovarian cyst in a neonate with classical 21-hydroxylase deficiency
por: Abdelmeguid, Yasmine, et al.
Publicado: (2021)

Mutational and phenotypic spectrum of phenylalanine hydroxylase deficiency in Zhejiang Province, China
por: Chen, Ting, et al.
Publicado: (2018)

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease
por: Xia, Hong, et al.
Publicado: (2021)

β-thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report
por: Wu, Liusong, et al.
Publicado: (2017)

Treatment of Nonclassic 11-Hydroxylase Deficiency with Ashwagandha Root
por: Powell, Daniel, et al.
Publicado: (2017)

Renal Cysts and Nephrocalcinosis in 11 Beta-hydroxylase Deficiency
por: Abdulla, M. C., et al.
Publicado: (2017)

Compound heterozygous mutations in WFS1 cause atypical Wolfram syndrome
por: Pan, Yun-Di, et al.
Publicado: (2019)

Novel ADA2 Compound Heterozygous Mutations Resulting in Deficiency of Adenosine Deaminase 2 in a Pair of Siblings
por: Guo, Li, et al.
Publicado: (2021)

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

A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency
por: Wang, Chun, et al.
Publicado: (2020)

Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency
por: Giri, Dinesh, et al.
Publicado: (2017)

Identification of Compound Heterozygous Mutation in a Korean Patient with Alpha 1-antitrypsin Deficiency
por: Ko, Dae-Hyun, et al.
Publicado: (2011)

Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta
por: Tang, Yen-An, et al.
Publicado: (2020)

H62L Mutation of CYP21A2 Identified in the Non-classical Form of 21-Hydroxylase Deficiency
por: Nagasaki, Keisuke, et al.
Publicado: (2009)

Cannot write session to /tmp/vufind_sessions/sess_d6rptk03cdo5g9uuhvlfc37k64