Cargando…

SRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature

BACKGROUND: 45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range of phenotypes in both males and females, from normal individuals with different degrees of genital ambiguity to those who show signs of Turner’s syndrome. More rarely, cases of 45,X/46,XY mosaicism with a normal-app...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wu, Yan-Hua, Sun, Ke-Na, Bao, Hui, Chen, Ying-Jian
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Baishideng Publishing Group Inc 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7760426/ https://www.ncbi.nlm.nih.gov/pubmed/33392321 http://dx.doi.org/10.12998/wjcc.v8.i24.6380

Ejemplares similares

High frequency of Y chromosome microdeletions in male infertility patients with 45,X/46,XY mosaicism
por: Li, Leilei, et al.
Publicado: (2020)

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism
por: De Groote, Katya, et al.
Publicado: (2013)

45,X/46,XY Mosaicism and Normozoospermia in a Patient with Male Phenotype
por: Ketheeswaran, Shathmigha, et al.
Publicado: (2019)

A Baby With Complete Androgen Insensitivity Syndrome and the Fortuitous Discovery of 45,X/46,XY Mosaicism
por: Wong, Wai Yu, et al.
Publicado: (2023)

Serum Concentrations and Gonadal Expression of INSL3 in Eighteen Males With 45,X/46,XY Mosaicism
por: Ljubicic, Marie Lindhardt, et al.
Publicado: (2021)

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)

A case of 46,XY complete gonadal dysgenesis with a novel missense variant in SRY
por: Narita, Chisato, 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)

Response to growth hormone therapy and gonadal pathology in 45,X/46,XY females
por: Titmuss, Angela, et al.
Publicado: (2015)

Monochorionic diamniotic twins of discordant external genitalia with 45,X/46,XY mosaicism
por: Takahashi, Ken, et al.
Publicado: (2020)

Mosaic Turner Syndrome With 45,X/46,XY Mosaicism and Apparent Absent Uterus
por: Alhajjaj, Alya, et al.
Publicado: (2021)

Hypospadias in a male infant with an unusual mosaic 45,X/46,X,psu idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case report
por: Si, Yan-Mei, et al.
Publicado: (2017)

Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype
por: Yüce, Özge, 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)

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism
por: Pan, Lili, et al.
Publicado: (2019)

Clinical and hormonal characteristics and growth data of 45,X/46,XY mosaicism in 38 Chinese patients
por: Yang, Jiaoru, et al.
Publicado: (2023)

A 45,X/46,XY Male with Orchidopexy Diagnosed with Mixed Germ Cell Tumor After 21-year Follow-up
por: Kubota, Masashi, 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 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)

Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)× 2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature
por: Marsudi, Bagas A., et al.
Publicado: (2018)

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)

Clinical and gonadal features and early surgical management of 45,X/46,XY and 45,X/47,XYY chromosomal mosaicism presenting with genital anomalies
por: Farrugia, M.K., et al.
Publicado: (2013)

Hormonal suppression of mini-puberty in a neonate with mosaic 45X/46XY disorder of sexual development
por: Kaefer, Martin, et al.
Publicado: (2020)

45,X/46,XY Mosaicism in an 18-year-old Girl with Primary Amenorrhea : A Case Report*
por: Lau, Eunice Yi Chwen, et al.
Publicado: (2020)

Female with 46, XY karyotype
por: Jung, Eun Jung, et al.
Publicado: (2017)

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

45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study
por: Rosa, Rafael Fabiano Machado, et al.
Publicado: (2014)

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

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)

XX males SRY negative: a confirmed cause of infertility
por: Vetro, Annalisa, et al.
Publicado: (2011)

SAT-297 Mutation in SRY Gene Presenting as Syndromic 46XY Disorder of Sexual Differentiation (DSD)
por: Adhikari, Amita, et al.
Publicado: (2019)

A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
por: Zhang, Lei, et al.
Publicado: (2013)

Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
por: Lam-Chung, César Ernesto, et al.
Publicado: (2021)

46,XY,r(8)/45,XY,−8 Mosaicism as a Possible Mechanism of the Imprinted Birk-Barel Syndrome: A Case Study
por: Kashevarova, Anna A., 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)

Retracted: A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia
por: in Endocrinology, Case Reports
Publicado: (2022)

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)

An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype
por: Abiri, Maryam, et al.
Publicado: (2021)

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)

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

Cannot write session to /tmp/vufind_sessions/sess_eecil6f73mmvgcipnk4goqg4hs