Literature DB >> 28791271

Female with 46, XY karyotype.

Eun Jung Jung1, Do Hwa Im1, Yong Hee Park1, Jung Mi Byun1,2, Young Nam Kim1,2, Dae Hoon Jeong1,2, Moon Su Sung1,2, Ki Tae Kim1,2, Hyo Jung An3, Soo Jin Jung3, Kyung Bok Lee1,2.   

Abstract

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare cases of 46, XY DSD, including XY pure gonadal dysgenesis and complete androgen insensitivity syndrome, who underwent a prophylactic gonadectomy.

Entities:  

Keywords:  46, XY female; Androgen-insensitivity syndrome; Gonadal dysgenesis

Year:  2017        PMID： 28791271      PMCID： PMC5547087          DOI： 10.5468/ogs.2017.60.4.378

Source DB:  PubMed          Journal:  Obstet Gynecol Sci        ISSN： 2287-8572


  8 in total

1.  The XY female.

Authors:  Lina Michala; Sarah M Creighton
Journal:  Best Pract Res Clin Obstet Gynaecol       Date:  2009-11-06       Impact factor: 5.237

Review 2.  Timing of gonadectomy in adult women with complete androgen insensitivity syndrome (CAIS): patient preferences and clinical evidence.

Authors:  Rebecca Deans; Sarah M Creighton; Lih-Mei Liao; Gerard S Conway
Journal:  Clin Endocrinol (Oxf)       Date:  2012-06       Impact factor: 3.478

3.  Inguinal hernia in female infants: a cue to check the sex chromosomes?

Authors:  Asma Deeb; Ieuan A Hughes
Journal:  BJU Int       Date:  2005-08       Impact factor: 5.588

4.  Gonadoblastoma arising in undifferentiated gonadal tissue within dysgenetic gonads.

Authors:  Martine Cools; Hans Stoop; Anne-Marie F Kersemaekers; Stenvert L S Drop; Katja P Wolffenbuttel; Jean-Pierre Bourguignon; Jolanta Slowikowska-Hilczer; Krzysztof Kula; Sultana M H Faradz; J Wolter Oosterhuis; Leendert H J Looijenga
Journal:  J Clin Endocrinol Metab       Date:  2006-04-11       Impact factor: 5.958

5.  A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis.

Authors:  Beth J Plante; Marc A Fritz
Journal:  Fertil Steril       Date:  2008-08-03       Impact factor: 7.329

Review 6.  Care of women with XY karyotype: a clinical practice guideline.

Authors:  Pernille Bach Jorgensen; Kristín Rós Kjartansdóttir; Jens Fedder
Journal:  Fertil Steril       Date:  2009-04-09       Impact factor: 7.329

7.  Normalization of the vagina by dilator treatment alone in Complete Androgen Insensitivity Syndrome and Mayer-Rokitansky-Kuster-Hauser Syndrome.

Authors:  Ida S Ismail-Pratt; Maligaye Bikoo; Lih-Mei Liao; Gerard S Conway; Sarah M Creighton
Journal:  Hum Reprod       Date:  2007-04-20       Impact factor: 6.918

Review 8.  Complete androgen insensitivity syndrome--a review.

Authors:  Meghan B Oakes; Aimee D Eyvazzadeh; Elisabeth Quint; Yolanda R Smith
Journal:  J Pediatr Adolesc Gynecol       Date:  2008-12       Impact factor: 1.814
  8 in total
  4 in total

Review 1.  Integrating Transwomen and Female Athletes with Differences of Sex Development (DSD) into Elite Competition: The FIMS 2021 Consensus Statement.

Authors:  Blair R Hamilton; Giscard Lima; James Barrett; Leighton Seal; Alexander Kolliari-Turner; Guan Wang; Antonia Karanikolou; Xavier Bigard; Herbert Löllgen; Petra Zupet; Anca Ionescu; Andre Debruyne; Nigel Jones; Karin Vonbank; Federica Fagnani; Chiara Fossati; Maurizio Casasco; Demitri Constantinou; Bernd Wolfarth; David Niederseer; Andrew Bosch; Borja Muniz-Pardos; José Antonio Casajus; Christian Schneider; Sigmund Loland; Michele Verroken; Pedro Manonelles Marqueta; Francisco Arroyo; André Pedrinelli; Konstantinos Natsis; Evert Verhagen; William O Roberts; José Kawazoe Lazzoli; Rogerio Friedman; Ali Erdogan; Ana V Cintron; Shu-Hang Patrick Yung; Dina C Janse van Rensburg; Dimakatso A Ramagole; Sandra Rozenstoka; Felix Drummond; Theodora Papadopoulou; Paulette Y O Kumi; Richard Twycross-Lewis; Joanna Harper; Vasileios Skiadas; Jonathan Shurlock; Kumpei Tanisawa; Jane Seto; Kathryn North; Siddhartha S Angadi; Maria Jose Martinez-Patiño; Mats Borjesson; Luigi Di Luigi; Michiko Dohi; Jeroen Swart; James Lee John Bilzon; Victoriya Badtieva; Irina Zelenkova; Juergen M Steinacker; Norbert Bachl; Fabio Pigozzi; Michael Geistlinger; Dimitrios G Goulis; Fergus Guppy; Nick Webborn; Bulent O Yildiz; Mike Miller; Patrick Singleton; Yannis P Pitsiladis
Journal:  Sports Med       Date:  2021-03-24       Impact factor: 11.928

2.  Vulvar-vaginal reconstruction surgery for sexual function in patient with disorders of sex development.

Authors:  Fernandi Moegni; Dewita Nilasari; Surahman Hakim; Tyas Priyatini; Alfa Putri Meutia; Gita Nurul Hidayah
Journal:  Int J Surg Case Rep       Date:  2022-08-19

3.  Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics.

Authors:  Agnieszka Malcher; Piotr Jedrzejczak; Tomasz Stokowy; Soroosh Monem; Karolina Nowicka-Bauer; Agnieszka Zimna; Adam Czyzyk; Marzena Maciejewska-Jeske; Blazej Meczekalski; Katarzyna Bednarek-Rajewska; Aldona Wozniak; Natalia Rozwadowska; Maciej Kurpisz
Journal:  Int J Mol Sci       Date:  2019-10-30       Impact factor: 5.923

4.  Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.

Authors:  Liwei Li; Junhong Zhang; Qing Li; Li Qiao; Pengcheng Li; Yi Cui; Shujun Li; Shirui Hao; Tongqian Wu; Lili Liu; Jianmin Yin; Pingsheng Hu; Xiaowei Dou; Shuping Li; Hui Yang
Journal:  Ital J Pediatr       Date:  2022-03-24       Impact factor: 2.638
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.