Cargando…

Case Report: Novel Compound Heterozygotic Variants in PPP2R3C Gene Causing Syndromic 46, XY Gonadal Dysgenesis and Literature Review

Purpose: Patients with syndromic 46, XY disorders/differences of sex development (DSD) are characterized by gonadal and phenotypic genders inconsistent with their chromosomal sexes as well as abnormalities of multiple extragonadal organs. They are caused by mutations in specific genes, which are exp...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zhang, Wei, Mao, Jiangfeng, Wang, Xi, Sun, Bang, Zhao, Zhiyuan, Zhang, Xiaoxia, Nie, Min, Wu, Xueyan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9259967/ https://www.ncbi.nlm.nih.gov/pubmed/35812758 http://dx.doi.org/10.3389/fgene.2022.871328

Ejemplares similares

A rare case report of 46XY mixed gonadal dysgenesis
por: Arora, Rakesh, et al.
Publicado: (2013)

Case Report: Long-term follow-up of desert hedgehog variant caused 46, XY gonadal dysgenesis with multiple complications in a Chinese child
por: Pan, Lili, et al.
Publicado: (2022)

Case Report: Severe Gonadal Dysgenesis Causing 46,XY Disorder of Sex Development Due to a Novel NR5A1 Variant
por: Alhamoudi, Kheloud M., et al.
Publicado: (2022)

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY
por: Narita, Chisato, et al.
Publicado: (2023)

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants
por: dos Santos, Ana Paula, et al.
Publicado: (2013)

Gonadoblastoma and dysgerminoma associated with 46,XY pure gonadal dysgenesis--a case report.
por: Kim, S. K., et al.
Publicado: (1993)

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation
por: Çatlı, Gönül, et al.
Publicado: (2015)

Copy Number Variation in Patients with Disorders of Sex Development Due to 46,XY Gonadal Dysgenesis
por: White, Stefan, et al.
Publicado: (2011)

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males
por: Gabriel Ribeiro de Andrade, Juliana, et al.
Publicado: (2014)

Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis
por: Meinel, Jakob A, et al.
Publicado: (2023)

Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome
por: McElreavey, Ken, et al.
Publicado: (2019)

DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis
por: de Oliveira, Felipe Rodrigues, et al.
Publicado: (2023)

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C
por: Cicek, Dilek, et al.
Publicado: (2021)

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report
por: Han, Yang, et al.
Publicado: (2011)

Identification of X Monosomy Cells From a Gonad of Mixed Gonadal Dysgenesis With a 46,XY Karyotype: Case Report
por: Nishina-Uchida, Noriko, et al.
Publicado: (2015)

A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient
por: Man, Elim, et al.
Publicado: (2013)

A de novo frameshift mutation of the SRY gene leading to a patient with 46,XY complete gonadal dysgenesis
por: Wang, Xiao-Bo, et al.
Publicado: (2019)

PMON270 Coexistence of 46, XX Testicular Disorder of Sex Development and 11β-Hydroxylase Deficiency: In Vivo and In Vitro Studies
por: Bang, Sun, et al.
Publicado: (2022)

Postchemotherapy sarcoma as a somatic-type malignancy derived from the gonadal yolk sac tumor in a patient with 46, XY pure gonadal dysgenesis
por: Zong, Xuan, et al.
Publicado: (2019)

SUN-205 A Case of 46XY Mixed Gonadal Dysgenesis Presenting with Unilateral Gonad and Hemiuterus: Family History Dictates Sex Assignment
por: Al-Gadi, Iman, et al.
Publicado: (2019)

A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene
por: Xu, Ke, et al.
Publicado: (2020)

PMON311 45,X/46,XY mixed gonadal dysgenesis: a case report from Saudi Arabia
por: Aljasser, Abdullah, et al.
Publicado: (2022)

Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)
por: Cobanogullari, H., et al.
Publicado: (2023)

Is interstitial 8p23 microdeletion responsible of 46,XY gonadal dysgenesis? One case report from birth to puberty
por: Wagner‐Mahler, Kathy, et al.
Publicado: (2019)

MON-075 Autonomy and Self-Determination in a Patient with XY Gonadal Dysgenesis
por: Moryan-Blanchard, Kristen, et al.
Publicado: (2020)

Mullerian remnants presenting as a pelvic cyst in a young adult with 45X0/46XY mixed gonadal dysgenesis
por: Ravirajendran, Samson, et al.
Publicado: (2021)

Dysgerminoma in a 15 years old phenotypically female Swyer syndrome with 46, XY pure gonadal dysgenesis: A case report
por: Ashraf Ganjooei, Tahereh, et al.
Publicado: (2022)

Early Bilateral Gonadoblastoma in a Patient with Mixed Gonadal Dysgenesis (Karyotype 45,X/46,XY): Case Report and Review of Literature
por: Trainavičius, Ignas, et al.
Publicado: (2022)

Classification of CHD7 Rare Variants in Chinese Congenital Hypogonadotropic Hypogonadism Patients and Analysis of Their Clinical Characteristics
por: Sun, Bang, et al.
Publicado: (2022)

Acute Lymphoblastic Leukemia Developing in a Patient with 46, XY Pure Gonadal Dysgenesis (Swyer Syndrome) with Malignant Gonadal Germ Cell Tumor: A Case Report and Literature Review
por: Zhang, Xinyue, et al.
Publicado: (2022)

Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review
por: Lin, Rui, et al.
Publicado: (2021)

Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing
por: Yu, Bingqing, et al.
Publicado: (2021)

Pure gonadal dysgenesis (46 XX type) with a familial pattern
por: Kohmanaee, Shahin, et al.
Publicado: (2015)

A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis
por: Fan, Wufang, et al.
Publicado: (2016)

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report
por: Zhytnik, Lidiia, et al.
Publicado: (2022)

Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis
por: Rjiba, Khouloud, et al.
Publicado: (2023)

Anti-Ma2 encephalitis in a phenotypic female with XY gonadal dysgenesis: A case report
por: Alsuwaidi, Shaikha, et al.
Publicado: (2023)

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads
por: Nomura, Risa, et al.
Publicado: (2015)

Protection Against XY Gonadal Sex Reversal by a Variant Region on Mouse Chromosome 13
por: Livermore, Catherine, et al.
Publicado: (2020)

A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar
por: Soheilipour, Fahimeh, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_m36vcsupo0ns28hlpcqt178hdb