Cargando…

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about follow-up. Our aim was to analyze long-term outcomes of PGD. Methods. Retrospective longitudinal study conducted at a reference service in Brazi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Gabriel Ribeiro de Andrade, Juliana, Marques-de-Faria, Antonia Paula, Fabbri, Helena Campos, de Mello, Maricilda Palandi, Guerra-Júnior, Gil, Maciel-Guerra, Andréa Trevas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2014
Materias:	Clinical Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279723/ https://www.ncbi.nlm.nih.gov/pubmed/25580123 http://dx.doi.org/10.1155/2014/480724

Ejemplares similares

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)

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

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency
por: Fabbri, Helena Campos, et al.
Publicado: (2014)

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)

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency
por: Veiga-Junior, Nélio Neves, et al.
Publicado: (2012)

Androgens by immunoassay and mass spectrometry in children with 46,XY disorder of sex development
por: Oliveira, Letícia Ribeiro, et al.
Publicado: (2020)

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
por: Francese-Santos, Ana Paula, et al.
Publicado: (2022)

Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development
por: de Calais, Flávia Leme, et al.
Publicado: (2011)

Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis
por: Cunha, Sarah Crestian, et al.
Publicado: (2018)

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

SUN-086 Pilot Study Using Aromatase Inhibitor in Puberty of Boys With Partial Androgen Insensitivity: Report of Three Cases
por: Maciel-Guerra, Andrea Trevas, et al.
Publicado: (2020)

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)

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

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

Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study
por: Riccetto, Luísa, et al.
Publicado: (2022)

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 study of splicing mutations in disorders of sex development
por: de Calais, Flavia Leme, 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)

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)

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

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 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)

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)

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)

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)

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)

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family
por: Petroli, Reginaldo J, et al.
Publicado: (2011)

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)

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

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing
por: De Paula, Georgette Beatriz, et al.
Publicado: (2016)

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)

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)

Cannot write session to /tmp/vufind_sessions/sess_3cgdrri41nu44mpkb2lgrhsuhr