Cargando…

Androgen Insensitivity Syndrome: Clinical Phenotype and Molecular Analysis in a Single Tertiary Center Cohort

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)....

Descripción completa

Detalles Bibliográficos
Autores principales:	Touzon, Maria Sol, Garrido, Natalia Perez, Marino, Roxana, Ramirez, Pablo, Costanzo, Mariana, Guercio, Gabriela, Berensztein, Esperanza, Rivarola, Marco A., Belgorosky, Alicia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2019
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6398199/ https://www.ncbi.nlm.nih.gov/pubmed/30251955 http://dx.doi.org/10.4274/jcrpe.galenos.2018.2018.0185

Ejemplares similares

Estrogens in Human Male Gonadotropin Secretion and Testicular Physiology From Infancy to Late Puberty
por: Guercio, Gabriela, et al.
Publicado: (2020)

SUN-212 Differences of Sex Development Patients: Characterization of Histological Findings and Immunohistochemistry Markers in 46,Xx Gonads During Early Childhood.
por: Touzon, Maria Sol, et al.
Publicado: (2019)

SUN-712 Familial 46, XY Complete Female External Sex Development with a Non-Mosaic Inherited SRY Gene Variation
por: Vaiani, Elisa, et al.
Publicado: (2020)

SUN-047 Germline and Somatic Mutations in DICER1 Gene Associated with Different Hereditary Tumours in Paediatric Patients
por: Trobo, Sofia, et al.
Publicado: (2019)

Congenital Adrenal Hyperplasia and Ehlers-Danlos Syndrome
por: Marino, Roxana, et al.
Publicado: (2022)

SAT-LB051 Longitudinal Growth in Height and Changes in Body Proportions in Children with Hereditary Hypophosphatemic Rickets in a Single Center
por: Viterbo, Gisela, et al.
Publicado: (2019)

SAT-093 Two Cases of Autosomal Dominant Familial Central Diabetes Insipidus: A Novel Variant in Neurophysin II Region of AVP Gene
por: Ramirez, Biochemist, Pablo, et al.
Publicado: (2020)

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene
por: Eozenou, Caroline, et al.
Publicado: (2020)

The challenges of androgen insensitivity syndrome
por: Ovidiu, Bratu, et al.
Publicado: (2021)

Genotype and phenotype of Vietnamese patients with androgen insensitivity syndrome
por: Dung, Vu Chi, et al.
Publicado: (2013)

Phenotypic and molecular characteristics of androgen insensitivity syndrome patients
por: Yuan, Shi-Min, et al.
Publicado: (2018)

Embryonal carcinoma in androgen insensitivity syndrome
por: Barmon, Debabrata, et al.
Publicado: (2011)

Androgen insensitivity syndrome: a review
por: Batista, Rafael Loch, et al.
Publicado: (2018)

SAT-069 Advantages of Next Generation Sequencing (NGS) in Hypophosphatemic Disorders Diagnosis. First Case of SLC9A3R1 Gene Pathogenic Variant Detected in a Pediatric Patient
por: Ramirez, Biochemist, Pablo, et al.
Publicado: (2020)

THU209 Small INDELs In The Androgen Receptor Gene: Phenotype Implications And Mechanisms Of Mutagenesis In Androgen Insensitivity Syndrome
por: Batista, Rafael Loch, et al.
Publicado: (2023)

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes
por: Lee, Nae-yun, et al.
Publicado: (2023)

Mutational Analysis of Androgen Receptor Gene in Two Families with Androgen Insensitivity
por: Akella, Radha Ramadevi
Publicado: (2017)

Complete Androgen Insensitivity Syndrome in Three Sisters
por: Verim, Levent
Publicado: (2014)

Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia
por: Lee, Sung Won, et al.
Publicado: (2015)

An Early Case of Complete Androgen Insensitivity Syndrome
por: Matalka, Leen, et al.
Publicado: (2023)

A Novel Mutation of Androgen Receptor Gene in Complete Androgen Insensitivity Syndrome
por: Narumi, Satoshi, et al.
Publicado: (2007)

Androgen Receptor Gene Variants in New Cases of Equine Androgen Insensitivity Syndrome
por: Villagomez, Daniel A.F., et al.
Publicado: (2020)

Occurrence of testicular microlithiasis in androgen insensitive hypogonadal mice
por: O'Shaughnessy, Peter J, et al.
Publicado: (2009)

SAT-213 Late Diagnosis of Complete Androgen Insensitivity
por: Tsai, Karen, et al.
Publicado: (2019)

Androgen Insensitivity Syndrome: A rare genetic disorder
por: Fulare, Sushrut, et al.
Publicado: (2020)

Complete Androgen Insensitivity Syndrome: From Bench to Bed
por: Tyutyusheva, Nina, et al.
Publicado: (2021)

Complete Androgen Insensitivity and Decreased Bone Mineral Density
por: Bauer, Elizabeth M, et al.
Publicado: (2021)

Bilateral Breast Phyllodes Tumor in Androgen Insensitivity Syndrome
por: Dutt, Aishwarya Sunil, et al.
Publicado: (2023)

Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and Their Molecular Characteristics
por: Malcher, Agnieszka, et al.
Publicado: (2019)

A promoting role of androgen receptor in androgen-sensitive and -insensitive prostate cancer cells
por: Li, Tzu-Huey, et al.
Publicado: (2007)

Integrin Involvement in Freeze Resistance of Androgen-Insensitive Prostate Cancer
por: Baust, John G., et al.
Publicado: (2010)

Comment on “Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management”
por: Balsamo, Antonio, et al.
Publicado: (2014)

Genetic analysis of a family with complete androgen insensitivity syndrome
por: Kota, Sunil Kumar, et al.
Publicado: (2013)

Laparoscopic gonedectomy in a case of complete androgen insensitivity syndrome
por: Bhaskararao, G., et al.
Publicado: (2014)

Minor Hypospadias: The “Tip of the Iceberg” of the Partial Androgen Insensitivity Syndrome
por: Kalfa, Nicolas, et al.
Publicado: (2013)

Potential risk of inguinal hernia in complete androgen insensitivity syndrome
por: Kimizuka, Yu, et al.
Publicado: (2022)

Induction of lactation in a patient with complete androgen insensitivity syndrome
por: Voon, Kimberly, et al.
Publicado: (2023)

Mutational analysis of the androgen receptor gene in two Chinese families with complete androgen insensitivity syndrome
por: WANG, SONG, et al.
Publicado: (2016)

Novel Variant of the Androgen Receptor Gene in a Patient With Complete Androgen Insensitivity Syndrome and Polyorchidism
por: Konrade, Ilze, et al.
Publicado: (2019)

Predicting puberty in partial androgen insensitivity syndrome: Use of clinical and functional androgen receptor indices
por: Lek, Ngee, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_qvmotjp46ntiirofg80ub42svv