Results 21 to 30 of about 2,312 (175)

FENOTIP PADA KELAINAN GONADAL DISGENESIS 46, XY

Jurnal Kedokteran Diponegoro, 2016
Latar belakang: Fenotip pada pasien Gonadal Dysgenesis 46, XY bervariasi dari wanita normal sampai ambigus genitalia hingga pria dengan undervirilisasi.
Prima Chaerunisa Ananda, Sultana MH Faradz, Mahayu Dewi Ariani   +2 more
doaj   +1 more source

Rare successful pregnancy in a patient with Swyer Syndrome

Case Reports in Women's Health, 2016
Objective: To report a rare successful pregnancy after fertility treatment in a patient with Swyer syndrome. Design: Case report. Setting: Herts & Essex Fertility Centre, Cheshunt, UK. Patient(s): A 36-year-old patient with 46, XY gonadal dysgenesis.
Jyoti Taneja, David Ogutu, Michael Ah-Moye   +2 more
doaj   +1 more source

The XY female and SWYER syndrome

Urology Case Reports, 2019
Abtsract: SWYER syndrome or pure gonadal dysgenesis is a disease in which individuals with a female phenotype, with female external genital organs, have a 46 XY karyotype and streak gonads that ought to be removed given their high malignization potential.
Karine F. Meyer, Luiz G. Freitas Filho, Karina I. Silva, Pedro A. Trauzcinsky, Cristina Reuter, Maria Beatriz M. Souza   +5 more
doaj   +1 more source

A novel missense heterozygous mutation in MAP3K1 gene causes 46, XY disorder of sex development: case report and literature review

Molecular Genetics & Genomic Medicine, 2020
Background Disorders of sex development (DSD) can result from congenital defect in sex determining pathway. Mitogen‐activated protein kinase kinase kinase 1 (MAP3K1) is one of the commonest genes that has been identified to cause 46, XY DSD.
Aisha Al Shamsi, Noura Al Hassani, Moustafa Hamchou, Raya Almazrouei, Aziz Mhanni   +4 more
doaj   +1 more source

#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype

Fertility & Reproduction, 2023
Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY.
Meycha Dafhonsa, Uki Retno Budihastuti, Eriana Melinawati   +2 more
doaj   +1 more source

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report

Diagnostic Pathology, 2011
Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian ...
He Anguang, Dai Shundong, Li Qingchang, Wang Yan, Han Yang, Wang Enhua   +5 more
doaj   +1 more source

46 XY gonadal dysgenesis in adulthood ‘pitfalls of late diagnosis’ [PDF]

BMJ Case Reports, 2012
Disorders of sex development (DSD) include congenital conditions where developments of chromosomal, gonadal or anatomical sex are atypical. Ostrer in 2000, reported a prevalence of 1:20 000 for 46 XY DSD and complete gonadal dysgenesis. A 21-year-old patient consulted for sexual ambiguity at the out-patient department of the Philippine general hospital.
Jarna Naing, Hamin, Francis Raymond P, Arkoncel, Frances Lina, Lantion-Ang, Mark Anthony S, Sandoval   +3 more
openaire   +2 more sources

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

International Journal of Endocrinology, 2016
Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center.
Georgette Beatriz De Paula, Beatriz Amstalden Barros, Stela Carpini, Bruna Jordan Tincani, Tais Nitsch Mazzola, Mara Sanches Guaragna, Cristiane Santos da Cruz Piveta, Laurione Candido de Oliveira, Juliana Gabriel Ribeiro Andrade, Guilherme Guaragna-Filho, Pedro Perez Barbieri, Nathalia Montibeler Ferreira, Marcio Lopes Miranda, Ezequiel Moreira Gonçalves, Andre Moreno Morcillo, Nilma Lucia Viguetti-Campos, Sofia Helena Valente Lemos-Marini, Roberto Benedito de Paiva Silva, Antonia Paula Marques-de-Faria, Maricilda Palandi De Mello, Andrea Trevas Maciel-Guerra, Gil Guerra-Junior   +21 more
doaj   +1 more source

Swyer Syndrome: A Case Report

Endocrinology Research and Practice, 2014
Swyer syndrome is a pure gonad dysgenesis associating with 46.XY karyotype, primary amenorrhea and presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The diagnosis is usually made at adolescence when the primary
Hakan Korkmaz, Mesut Özkaya, Ersin Akarsu   +2 more
doaj   +1 more source

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. [PDF]

PLoS ONE, 2011
BACKGROUND: Mutations of the NR5A1 gene encoding steroidogenic factor-1 have been reported in association with a wide spectrum of 46,XY DSD (Disorder of Sex Development) phenotypes including severe forms of hypospadias. METHODOLOGY/PRINCIPAL FINDINGS: We
Slimane Allali, Jean-Baptiste Muller, Raja Brauner, Diana Lourenço, Radia Boudjenah, Vasiliki Karageorgou, Christine Trivin, Henri Lottmann, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Olivier De Dreuzy, Ken McElreavey, Anu Bashamboo   +12 more
doaj   +1 more source