Cargando…

A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report

The 46,XX ovotesticular disorder of sex development (DSD) is rarely observed in humans. This disorder is generally described as ambiguous genitalia with the presence of ovarian and testicular tissues in different gonads or in the same gonad. Almost no subjects with 46,XX ovotesticular DSD have sex-d...

Descripción completa

Detalles Bibliográficos
Autores principales:	Mengen, Eda, Kayhan, Gülsüm, Kocaay, Pınar, Uçaktürk, Seyit Ahmet
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7499138/ https://www.ncbi.nlm.nih.gov/pubmed/31476840 http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0101

Ejemplares similares

The Effects of Risk Behaviors and Orthorexic Behavior on Glycemic Control in Adolescents with Type 1 Diabetes
por: Taş, Demet, et al.
Publicado: (2020)

The Significance of Thiol/Disulfide Homeostasis and Ischemia-modified Albumin Levels in Assessing Oxidative Stress in Obese Children and Adolescents
por: Mengen, Eda, et al.
Publicado: (2020)

A rare case of 46XX ovotesticular disorder of sex development
por: Reddy, Sagar S.L., et al.
Publicado: (2020)

A duplication upstream of SOX9 was not positively correlated with the SRY-negative 46,XX testicular disorder of sex development: A case report and literature review
por: XIA, XIN-YI, et al.
Publicado: (2015)

Painful ovulation in a 46,XX SRY −ve adult male with SOX9 duplication
por: Shankara Narayana, Nandini, et al.
Publicado: (2017)

46, XX Ovotesticular disorder of sex development (true hermaphroditism) with seminoma: A case report
por: Li, Zixiang, et al.
Publicado: (2020)

The 46, XX Ovotesticular Disorder of Sex Development With Xq27.1q27.2 Duplication Involving the SOX3 Gene: A Rare Case Report and Literature Review
por: Zhuang, Jianlong, et al.
Publicado: (2021)

Whole genome sequencing identifies a cryptic SOX9 regulatory element duplication underlying a case of 46,XX ovotesticular difference of sexual development
por: Qian, Zhiyu, et al.
Publicado: (2021)

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)
por: Marcinkowska-Swojak, Malgorzata, et al.
Publicado: (2015)

A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene
por: Mengen, Eda, et al.
Publicado: (2020)

Duplication of SOX3 in an SRY-negative 46,XX male with prostatic utricle: case report and literature review
por: Wei, Jiansheng, et al.
Publicado: (2022)

Catecholamine-induced Myocarditis in a Child with Pheochromocytoma
por: Uçaktürk, S. Ahmet, et al.
Publicado: (2020)

Sox9 Duplications Are a Relevant Cause of Sry-Negative XX Sex Reversal Dogs
por: Rossi, Elena, et al.
Publicado: (2014)

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication
por: Lee, Gyung Min, et al.
Publicado: (2014)

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development
por: Baetens, Dorien, et al.
Publicado: (2017)

46,XX ovotesticular disorder in a Mexican patient with Beckwith–Wiedemann syndrome: a case report
por: Macías-Gómez, Nelly Margarita, et al.
Publicado: (2012)

46,XY ovotesticular disorders of sex development: A therapeutic challenge
por: Scarpa, Maria-Grazia, et al.
Publicado: (2017)

Duplication of The SOX3 Gene in an Sry-negative 46,XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature
por: Tasic, V, et al.
Publicado: (2019)

Leydig Cell Tumor in a Patient with 46,XX Disorder of Sex Development (DSD), Ovotesticular: A Case Report and a Review of the Literature
por: Gretser, Steffen, et al.
Publicado: (2021)

Erectile function in SRY positive 46,XX males with normal phenotype
por: Yiğman, Metin, et al.
Publicado: (2021)

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation
por: Talreja, Shyam M., et al.
Publicado: (2015)

THU189 Complex Treatment Of Recurrent Gynecomastia In An Affirmed Male With 46XX Ovotesticular Difference Of Sexual Differentiation (DSD).
por: Jumani, Sanjay, et al.
Publicado: (2023)

Steroidogenic Factor-1 (SF-1, NR5A1) and 46,XX Ovotesticular Disorders of Sex Development: One Factor, Many Phenotypes
por: McElreavey, Kenneth, et al.
Publicado: (2017)

Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene
por: Qin, Shengfang, et al.
Publicado: (2022)

A Case Series of Five Sri Lankan Patients with Ovotesticular Disorder of Sex Development
por: Wettasinghe, Kalum T., et al.
Publicado: (2012)

Achondroplasia with SRY-positive 46, XX disorder of sex development: an extremely rare association
por: Du, Yang Timothy, et al.
Publicado: (2018)

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
por: Croft, Brittany, et al.
Publicado: (2018)

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive
por: Wu, Qiu-Yue, et al.
Publicado: (2014)

Sex Reversal Syndrome (SRS): A Case of SRY-Positive 46,XX Testicular Disorder
por: Shil, Kishore, et al.
Publicado: (2023)

A Novel WT1 Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9
por: Sirokha, Dmytro, et al.
Publicado: (2021)

Subclinical Myocardial Dysfunction Demonstrated by Speckle Tracking Echocardiography in Children with Euthyroid Hashimoto’s Thyroiditis
por: Azak, Emine, et al.
Publicado: (2019)

SRY-positive 78, XY ovotesticular disorder of sex development in a wolf cloned by nuclear transfer
por: Kang, Jung Taek, et al.
Publicado: (2012)

Failure of SOX9 Regulation in 46XY Disorders of Sex Development with SRY, SOX9 and SF1 Mutations
por: Knower, Kevin C., et al.
Publicado: (2011)

In Tandem Intragenic Duplication of Doublesex and Mab-3-Related Transcription Factor 1 (DMRT1) in an SRY-Negative Boy with a 46,XX Disorder of Sex Development
por: Bertini, Veronica, et al.
Publicado: (2023)

Author Correction: Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9
por: Croft, Brittany, et al.
Publicado: (2019)

Ovotesticular disorder of sex development in a 46 XY adolescent: a rare case report with review of the literature
por: Bbs, Koui, et al.
Publicado: (2023)

Ovotesticular Disorder of Sex Development: An Unusual Presentation
por: Özdemir, Meltem, et al.
Publicado: (2019)

46 XY Ovotesticular Disorder: A Rare Case Report with Review of Literature
por: Meenal, Bhati, et al.
Publicado: (2021)

46XX Testicular Disorder of Sex Development
por: Mantravadi, Krishna Chaitanya, et al.
Publicado: (2021)

46XX Testicular Disorder of Sex Development
por: Maldar, Aasim N., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_7gplgdf2veodabrkfbd7cnna13