Cargando…

Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population

BACKGROUND: A deficiency in steroid 5α-reductase type 2 is an autosomal recessive disorder. Affected individuals manifested ambiguous genitalia, which is caused by decreased dihydrotestosterone (DHT) synthesis in the fetus. METHODS: We analyzed 25 patients with 5α-reductase deficiency in China. Seve...

Descripción completa

Detalles Bibliográficos
Autores principales:	Han, Bing, Cheng, Tong, Zhu, Hui, Yu, Jie, Zhu, Wen-jiao, Song, Huai-dong, Yao, Haijun, Qiao, Jie
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi 2020
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7301183/ https://www.ncbi.nlm.nih.gov/pubmed/32596280 http://dx.doi.org/10.1155/2020/1789514

Ejemplares similares

Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency
por: Cheng, Tong, et al.
Publicado: (2019)

Differences of adrenal‐derived androgens in 5α‐reductase deficiency versus androgen insensitivity syndrome
por: Han, Bing, et al.
Publicado: (2021)

SUN-362 Differences in Both Gonadal and Adrenal-Derived Androgens in 5α-Reductase Deficiency versus Androgen Insensitivity Syndrome and Normal Chinese Men Using LC-MS/MS
por: Han, Bing, et al.
Publicado: (2019)

Genetic sequencing of a patient with Kallmann syndrome plus 5α-reductase type 2 deficiency
por: Ji, Wen, et al.
Publicado: (2017)

Growth Pattern in Chinese Children With 5α-Reductase Type 2 Deficiency: A Retrospective Multicenter Study
por: Zhao, Xiu, et al.
Publicado: (2019)

Relative adrenal insufficiency in mice deficient in 5α-reductase 1
por: Livingstone, Dawn E W, et al.
Publicado: (2014)

Diagnosis of 5α–reductase 2 deficiency: is measurement of dihydrotestosterone essential?
por: Chan, Angel OK, et al.
Publicado: (2013)

SUN-211 Male Pseudohermaphroditism Due to 5α-Reductase-2 Deficiency
por: Selman-Geara, Antonio, et al.
Publicado: (2019)

Exploring the efficacy of testosterone undecanoate in male children with 5α‐reductase deficiency
por: Liu, Ying, et al.
Publicado: (2021)

Genotype–Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5α-Reductase Deficiency
por: Gui, Ting, et al.
Publicado: (2022)

α1-Blockers and 5α-Reductase Inhibitors Are the Most Recommended Drugs in Treating Benign Prostatic Hyperplasia: An Evidence-Based Evaluation of Clinical Practice Guidelines
por: Xu, Xiao-Feng, et al.
Publicado: (2020)

Phenotype and genotype of patients with disorder of sex development due to 5α-reductase deficiency
por: Dung, Vu Chi, et al.
Publicado: (2015)

Effects of Androgen Treatment on Growth in Patients with 5-α-Reductase Type 2 Deficiency
por: Lee, Hae In, et al.
Publicado: (2023)

5α-reductase inhibitors impact prognosis of urothelial carcinoma
por: Wang, Chien-Sheng, et al.
Publicado: (2020)

Clinical characteristics and genotype‐phenotype correlations of 130 Chinese children in a high‐homogeneity single‐center cohort with 5α‐reductase 2 deficiency
por: Fan, Lijun, et al.
Publicado: (2020)

Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b(5) reductase deficiency in cats
por: Jaffey, Jared A., et al.
Publicado: (2019)

Discovery of a potent HMG-CoA reductase degrader that eliminates statin-induced reductase accumulation and lowers cholesterol
por: Jiang, Shi-You, et al.
Publicado: (2018)

The impact of finasteride and dutasteride treatments on proliferation, apoptosis, androgen receptor, 5α-reductase 1 and 5α-reductase 2 in TRAMP mouse prostates
por: Opoku-Acheampong, Alexander B., et al.
Publicado: (2017)

Bioactives in Chinese Proprietary Medicine Modulates 5α-Reductase Activity and Gene Expression Associated with Androgenetic Alopecia
por: Tan, Justin J. Y., et al.
Publicado: (2017)

Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development
por: de Calais, Flávia Leme, et al.
Publicado: (2011)

Novel Genotype in Two Siblings with 5-α-reductase 2 Deficiency: Different Clinical Course due to the Time of Diagnosis
por: Kocova, M, et al.
Publicado: (2019)

“Congruency the ART of Being Real” - 46XY DSD Due to 5 α Reductase Deficiency - Challenges in Decision Making
por: Subbiah, Sridhar, et al.
Publicado: (2021)

Is There a Link between 5α-Reductase Inhibitors and Hypoglycemia?
por: Jeong, Jin Woo, et al.
Publicado: (2021)

Association of 5α-Reductase Inhibitors With Dementia, Depression, and Suicide
por: Garcia-Argibay, Miguel, et al.
Publicado: (2022)

Erratum for Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b(5) reductase deficiency in cats
Publicado: (2021)

Hydrocephalus presented as the prominent symptom of severe 5,10-methylenetetrahydrofolate reductase deficiency in an infant: A case report
por: Ding, Yuan, et al.
Publicado: (2022)

5-Alpha-Reductase 2 Deficiency in a Woman with Primary Amenorrhea
por: Maleki, Nasrollah, et al.
Publicado: (2013)

STUDIES IN PORPHYRIA : II. EVIDENCE FOR A DEFICIENCY OF STEROID Δ(4)-5α-REDUCTASE ACTIVITY IN ACUTE INTERMITTENT PORPHYRIA
por: Bradlow, H. Leon, et al.
Publicado: (1973)

Changes in the clinical management of 5α-reductase type 2 and 17β-hydroxysteroid dehydrogenase type 3 deficiencies in France
por: Bonnet, Estelle, et al.
Publicado: (2023)

Genetic Variation of 25 Y-Chromosomal and 15 Autosomal STR Loci in the Han Chinese Population of Liaoning Province, Northeast China
por: Yao, Jun, et al.
Publicado: (2016)

Phenotypic and biochemical characteristics and molecular basis in 36 Chinese patients with androgen receptor variants
por: Zhu, Hui, et al.
Publicado: (2021)

Clinical, metabolic, and molecular genetic characterization of hereditary methemoglobinemia caused by cytochrome b(5) reductase deficiency in 30 dogs
por: Jaffey, J. A., et al.
Publicado: (2020)

Current Status of 5α-Reductase Inhibitors in Prostate Disease Management
por: Kang, Dong Il, et al.
Publicado: (2013)

Is DHT Production by 5α-Reductase Friend or Foe in Prostate Cancer?
por: Kosaka, Takeo, et al.
Publicado: (2014)

5α-Reductase Type 1 Modulates Insulin Sensitivity in Men
por: Upreti, Rita, et al.
Publicado: (2014)

Metabolic dysfunction in female mice with disruption of 5α-reductase 1
por: Livingstone, Dawn E W, et al.
Publicado: (2016)

Parkinsonism in Association with Dihydropteridine Reductase Deficiency
por: Takahashi, Yoshiaki, et al.
Publicado: (2017)

Potential impact of combined inhibition of 3α-oxidoreductases and 5α-reductases on prostate cancer
por: Fiandalo, Michael V., et al.
Publicado: (2019)

Cardiovascular Outcomes of α-Blockers vs 5-α Reductase Inhibitors for Benign Prostatic Hyperplasia
por: Zhang, Jiandong, et al.
Publicado: (2023)

Clinical presentations and molecular characterization of Indonesian children with 5 alpha-reductase deficiency
por: Marzuki, Nanis S, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_iifs010ul99161kvrncnttmjvd