Results 21 to 30 of about 50,074,769 (205)

A Rare Cause of Male Infertility: Mixed Gonadal Dysgenesis

Endocrinology Research and Practice
: Infertility is a significant health problem that affects many couples in the reproductive age range globally. While only the male factor is responsible for 20%-30% of cases of infertility, contributing to a further 20%.
Ceren Erdoğan Eroğlu, Süheyla Görar, Barış Paksoy   +2 more
doaj   +2 more sources

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

A Likely Diagnosis of Familial Partial Androgen Insensitivity Syndrome in Three 46, XY Siblings With Ambiguous Genitalia: A Case Series. [PDF]

Clin Case Rep
ABSTRACT Familial partial androgen insensitivity syndrome is a rare cause of 46, XY disorder of sex development. It includes marked phenotypic variability, even among siblings. Persistent undervirilization despite normal androgen levels should prompt early multidisciplinary evaluation and counseling, especially where genetic testing is limited.
Ali T, Javaid MH, Memon SF, Memon ZF, Iqbal M, Afridi S, Soroush AR, Khan AI, Ahmad N, Afridi NA, Ali Z.   +10 more
europepmc   +2 more sources

A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis [PDF]

, 2020
MAMLD1 is suggested to play a role in the development of 46,XY disorders of sexual development (46,XY DSD). So far, mutations in this gene have been detected in several cases of hypospadias with normal testosterone levels at birth.
Fukami, Maki, Krude, Heiko, Köhler, Birgit, Hübner, Angela, Biebermann, Heike, Ruiz-Arana, Inge-Lore, Cetingdag, Cigdem, Grüters, Annette   +7 more
core   +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

Gonadoblastoma Arising in Undifferentiated Gonadal Tissue within Dysgenetic Gonads [PDF]

, 2006
Purpose: The purpose of the study was to define the histological origin of gonadoblastomas, allowing the identification of high-risk patients. Experimental Design: Sixty paraffin-embedded gonadectomy or gonadal biopsy samples of 43 patients with ...
Kula, Krzysztof, Looijenga, L. H. J., Wolffenbuttel, K. P., Cools, Martine, Slowikowska-Hilczer, J., Slowikowska-Hilczer, Jolanta, Cools, M., Bourguignon, Jean-Pierre, Stoop, Hans, Drop, S. L. S., Oosterhuis, J. W., Kersemaekers, A. M. F., Faradz, S. M. H., Wolffenbuttel, Katja P, Stoop, H., Kula, K., Bourguignon, JP, Looijenga, LHJ, Slowikowska-Hilczer, J. (Jolanta), Slowikowska-Hilzcer, J, Kersemaekers, AMF, Stoop, H, Looijenga, L.H.J. (Leendert), Cools, M.B.C.M. (Martine), Cools, MBC, Drop, SLS, Faradz, SMH, Kula, K. (Krzysztof), Wolffenbuttel, K.P. (Katja), Oosterhuis, Wolter, Slowikowska-Hilczer, J, Drop, S.L.S. (Stenvert), Faradz, S, Kula, K, Stoop, J.A. (Hans), Wolffenbuttel, Katja, Kersemaekers, AM, Looijenga, LHJ (Leendert), Kersemaekers, A.M. (Anne-Marie), Wolffenbuttel, KP, Oosterhuis, J.W. (Wolter), Faradz, S.M.H. (Sultana), Oosterhuis, JW, Bourguignon, J.-P. (J.), Drop, Sten, Looijenga, Leendert H. J, Oosterhuis, J. Wolter, Faradz, Sultana M.H., Drop, Stenvert L. S, Kersemaekers, Anne-Marie F.   +49 more
core   +2 more sources

AS PECULIARIDADES DA DISGENESIA GONADAL MISTA (46, XY/45,X): UMA REVISÃO DA LITERATURA [PDF]

, 2021
Mixed Gonadal Dysgenesis is a sexual development disorder of the sex chromosome, commonly related to chromosomal mosaicism of 45,X/46,XY karyotypes, in addition to having digenetic gonads and a mutable internal and external reproductive anatomy.
Fabian Dors , Mônica, Malickovski Rodrigues, Thaís, Pietro Biasi , Giulia, Conte Gripa, Maria Eduarda, Arbugeri Menegotto , Gabriele, Silva Sergio , Tuane da, Hantt Corrêa Lima, Jonas, Jonas Hantt Corrêa Lima, Gabriele Arbugeri Menegotto, Giulia Pietro Biasi, Maria Eduarda Conte Gripa, Mônica Fabian Dors, Tuane da Silva Sergio, Thaís Malickovski Rodrigues   +13 more
core   +1 more source