Cargando…

Disorders/Differences of Sex Development Presenting in the Newborn With 46,XY Karyotype

Differences/disorders of sex development (DSD) are a heterogeneous group of congenital conditions, resulting in discordance between an individual's sex chromosomes, gonads, and/or anatomic sex. The management of a newborn with suspected 46,XY DSD remains challenging. Newborns with 46,XY DSD may...

Descripción completa

Detalles Bibliográficos
Autores principales:	Bertelloni, Silvano, Tyutyusheva, Nina, Valiani, Margherita, D'Alberton, Franco, Baldinotti, Fulvia, Caligo, Maria Adelaide, Baroncelli, Giampiero I., Peroni, Diego G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100517/ https://www.ncbi.nlm.nih.gov/pubmed/33968844 http://dx.doi.org/10.3389/fped.2021.627281

Ejemplares similares

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)

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

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

Mosaic Turner Syndrome Presenting with a 46,XY Karyotype
por: Rasouli, Melody, et al.
Publicado: (2019)

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)

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

THU185 Molecular Etiologic Spectrum Of Patients With 46,XY And 46,XX Disorders Of Sex Development
por: Kim, Ja Hye, et al.
Publicado: (2023)

A Novel Compound Heterozygous Mutation of HSD17B3 Gene Identified in a Patient With 46,XY Difference of Sexual Development
por: Cocchetti, Carlotta, et al.
Publicado: (2022)

All males do not have 46 xy karyotype: A rare case report
por: Agrawala, Ritesh Kumar, et al.
Publicado: (2013)

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

Gonadoblastoma with Dysgerminoma in a Phenotypically Turner-Like Girl with 45,X/46,XY Karyotype
por: Yüce, Özge, et al.
Publicado: (2015)

A patient with 46,XY/47,XYY karyotype and female phenotype: a case report
por: Liu, Zhi-Hui, et al.
Publicado: (2020)

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

When to address form and when to address function: Timing of surgical reconstruction for a patient with 46 XY DSD
por: Li, Oscar, et al.
Publicado: (2023)

MON-245 Sexuality and Fertility Issues in 46,XY Disorders of Sex Development Individuals
por: Batista, Rafael, et al.
Publicado: (2019)

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

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)

A Dispermic Chimera with Mixed Field Blood Group B and Mosaic 46,XY/47,XYY Karyotype
por: Cho, Duck, et al.
Publicado: (2007)

Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype
por: Bouça, Bruno, et al.
Publicado: (2023)

46 XY undervirulized male DSD: Reporting a patient with prenatally diagnosed disorder/difference of sex development (DSD) with heterozygous LHCGR mutations
por: Fendereski, Kiarad, et al.
Publicado: (2021)

The XY female and SWYER syndrome
por: Meyer, Karine F., et al.
Publicado: (2019)

OR05-3 Utility of Genomic work-up for 46XY Disorder of Sex Development Patients with Severe Hypospadias
por: Srivastava, Priya
Publicado: (2022)

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

SUN-074 Loss-Of-Function Mutations in GATA4 in Patients with 46,XY Disorders of Sex Development Without Cardiac Defects
por: Lee, Yena, et al.
Publicado: (2020)

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)

Case Report: De novo variant in myelin regulatory factor in a Chinese child with 46,XY disorder/difference of sex development, cardiac and urogenital anomalies, and short stature
por: Wang, Hui, et al.
Publicado: (2022)

MON-066 17B-hydroxysteroid dehydrogenase Type 3 Deficiency: An Under-Recognized Cause of 46,XY DSD in the United States?
por: Whitehead, J, et al.
Publicado: (2020)

ODP381 Changes in Perceptions of Pediatric Endocrinologists (PE) and Urologists (PU) to Infants and Children regarding care of individuals with 46,XY DSD
por: Lee, Peter, et al.
Publicado: (2022)

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)

Live birth in woman with premature ovarian insufficiency and 46, XY karyotype after chemotherapy and bone marrow transplant: a case report
por: Zhang, Yaojia, et al.
Publicado: (2023)

Prophylactic Bilateral Gonadectomy for Ovotesticular Disorder of Sex Development in a Patient With Mosaic 45,X/46,X,idic(Y)q11.222 Karyotype
por: Becker, Russell E.N., et al.
Publicado: (2016)

Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype
por: George, Sigin, et al.
Publicado: (2023)

Leydig and Sertoli cell function in individuals with genital ambiguity, 46,XY karyotype, palpable gonads and normal testosterone secretion: a case-control study
por: Guaragna-Filho, Guilherme, et al.
Publicado: (2022)

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)

ODP398 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
por: Yu, Yunting, et al.
Publicado: (2022)

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)

Acne in Klinefelter Syndrome-46XY/47XXY Mosaicism?
por: Lakshmi, Chembolli, et al.
Publicado: (2015)

Behavioural Problems in Children with 46XY Disorders of Sex Development
por: M. Selveindran, Nalini, et al.
Publicado: (2017)

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)

Cannot write session to /tmp/vufind_sessions/sess_ukiel1iuhashm0p0b16h7nh4m6