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Start Over Descriptor "androgen receptor gene mutations" Publisher galenos yayincilik
3 results on '"androgen receptor gene mutations"'

1. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD

Author

Neşe Akcan, Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, and Feyza Darendeliler

Subjects
46, xy disorders of sex development, 5α, -reductase deficiency, androgen insensitivity syndrome, androgen receptor gene mutations, srd5a2 gene mutations, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

INTRODUCTION: Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the definitive diagnosis in the prepubertal period. The aim was to evaluate the clinical, hormonal and genetic findings of 46,XY DSD patients who were diagnosed as AIS or 5α-RD. METHODS: Methods: Patients diagnosed as AIS or 5α-RD according to clinical and hormonal evaluations were investigated. Sequence variants of steroid 5-α-reductase type 2 were analyzed in cases with testosterone/dihydrotestosterone (T/DHT) ratio of ≥20, whereas the androgen receptor (AR) gene was screened when the ratio was T, p.Glu32*, c.330G>C, p.Leu110=; c.2084C>T, p.Pro695Leu, c.2585_2592delAGCTCCTG, p.(Lys862Argfs*16), of these c.330G>C with silent status remained undefined in terms of its causative effects. DISCUSSION AND CONCLUSION: Conclusion: T/DHT ratio is an important hormonal criterion, but in some cases, T/DHT ratio may lead to diagnostic confusion. Molecular diagnosis is important for the robust diagnosis of 46,XY DSD patients. Four novel AR variants were identified in our study.

Published
2022
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2. Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

Author

Maria Sol Touzon, Natalia Perez Garrido, Roxana Marino, Pablo Ramirez, Mariana Costanzo, Gabriela Guercio, Esperanza Berensztein, Marco A. Rivarola, and Alicia Belgorosky

Subjects
46, XY disorders of sex development, androgen insensitivity syndrome, androgen receptor gene mutations, mosaicism, clinical phenotype, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
Abstract

Objective:The aim of this study was the molecular characterization of the AR gene as the cause of 46,XY disorder in our population.Methods:We studied 41, non related, 46,XY disorder of sexual differentiation index cases, having characteristics consistent with androgen insensivity syndrome (AIS). Genomic DNA was isolated from peripheral blood leukocytes of all patients and 25 family members from 17 non-related families.Results:The AR gene analysis revealed an abnormal sequence in 58.5% of the index patients. All of the complete AIS (CAIS) cases were genetically confirmed, while in the partial form (PAIS) a mutation in AR was detected in only 13 (43.3%). Molecular studies revealed other affected or carrier relatives in 87% of the index cases. The AR mutations were found spread along the whole coding sequence, with a higher prevalence in the ligand binding domain. Nine out of 23 (39%) AR mutations were novel. In 17% of patients with detected AR mutations, somatic mosaicism was detected in leucocyte DNA. In our cohort, long-term follow up gender dysphoria, raised as male or female, was not found. Finally, in suspected PAIS, the identification of AR mutation occurred significantly less than in CAIS patients.Conclusion:Improved knowledge of the components of the AR complex and signaling network might contribute to long term outcome and genetic counseling in AIS patients.

Published
2019
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3. Androgen insensitivity syndrome: Clinical phenotype and molecular analysis in a single tertiary center cohort

Author

Gabriela Guercio, Mariana Costanzo, Alicia Belgorosky, Pablo Ramírez, Natalia Perez Garrido, Esperanza Berensztein, M A Rivarola, Maria Sol Touzon, and Roxana Marino

Subjects
Male, 0301 basic medicine, Oncology, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, medicine.disease_cause, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Cohort Studies, Tertiary Care Centers, 0302 clinical medicine, Endocrinology, Child, Mutation, education.field_of_study, Mosaicism, lcsh:RJ1-570, purl.org/becyt/ford/3.1 [https], Bioquímica y Biología Molecular, Androgen-Insensitivity Syndrome, Phenotype, Pedigree, Medicina Básica, Receptors, Androgen, Child, Preschool, Female, Original Article, Androgen insensitivity syndrome, purl.org/becyt/ford/3 [https], medicine.medical_specialty, CIENCIAS MÉDICAS Y DE LA SALUD, XY disorders of sex development, Adolescent, medicine.drug_class, Genetic counseling, androgen receptor gene mutations, Population, MOSAICISM, 03 medical and health sciences, Internal medicine, androgen insensitivity syndrome, medicine, Humans, education, Gene, lcsh:RC648-665, Sexual differentiation, business.industry, CLINICAL PHENOTYPE, Infant, Newborn, Infant, lcsh:Pediatrics, Sequence Analysis, DNA, clinical phenotype, Androgen, medicine.disease, Pediatrics, Perinatology and Child Health, XY DISORDERS OF SEX DEVELOPMENT, ANDROGEN RECEPTOR GENE MUTATIONS, business, 030217 neurology & neurosurgery, ANDROGEN INSENSITIVITY SÍNDROME
Abstract

Objective: The aim of this study was the molecular characterization of the AR gene as the cause of 46,XY disorder in our population. Methods: We studied 41, non related, 46,XY disorder of sexual differentiation index cases, having characteristics consistent with androgen insensivity syndrome (AIS). Genomic DNA was isolated from peripheral blood leukocytes of all patients and 25 family members from 17 non-related families. Results: The AR gene analysis revealed an abnormal sequence in 58.5% of the index patients. All of the complete AIS (CAIS) cases were genetically confirmed, while in the partial form (PAIS) a mutation in AR was detected in only 13 (43.3%). Molecular studies revealed other affected or carrier relatives in 87% of the index cases. The AR mutations were found spread along the whole coding sequence, with a higher prevalence in the ligand binding domain. Nine out of 23 (39%) AR mutations were novel. In 17% of patients with detected AR mutations, somatic mosaicism was detected in leucocyte DNA. In our cohort, long-term follow up gender dysphoria, raised as male or female, was not found. Finally, in suspected PAIS, the identification of AR mutation occurred significantly less than in CAIS patients. Conclusion: Improved knowledge of the components of the AR complex and signaling network might contribute to long term outcome and genetic counseling in AIS patients. Fil: Touzon, María Sol. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Perez Garrido, Natalia Isabel. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Marino, Roxana Marcela. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Ramirez, Pablo. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Costanzo, Mariana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Guercio, Gabriela Viviana. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Berensztein, Esperanza Beatriz. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina Fil: Rivarola, Marco Aurelio. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina Fil: Belgorosky, Alicia. Gobierno de la Ciudad de Buenos Aires. Hospital de Pediatría "Juan P. Garrahan"; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina

Published
2019

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