Literature DB >> 27769830

Gonadal dysgenesis in disorders of sex development: Diagnosis and surgical management.

K P Wolffenbuttel1, R Hersmus2, H Stoop2, K Biermann2, P Hoebeke3, M Cools4, L H J Looijenga2.   

Abstract

Recent studies on gonadal histology have improved the understanding of germ cell malignancy risk in patients with disorders of sex development (DSD), and evidence-based gonadal management strategies are gradually emerging. Especially in 46,XY DSD and 45,X/46,XY DSD, which are characterized by gonadal dysgenesis, the risk of germ cell malignancy is significantly increased. This paper summarized the progress over the past 10 years in malignancy risk assessment in patients with DSD, and its implications for optimal surgical handling of the involved gonads.
Copyright © 2016 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Disorders of sex development (DSD); Germ cell cancer (GCC); Gonadal dysgenesis (GD); Malignant germ cell tumors; Surgical management

Mesh：

Year:  2016        PMID： 27769830     DOI： 10.1016/j.jpurol.2016.08.015

Source DB:  PubMed          Journal:  J Pediatr Urol        ISSN： 1477-5131            Impact factor:   1.830


  9 in total

1.  Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy.

Authors:  Elizabeth Dabrowski; Emilie K Johnson; Vrunda Patel; YeoChing Hsu; Shanlee Davis; Allison L Goetsch; Reema Habiby; Wendy J Brickman; Courtney Finlayson
Journal:  J Pediatr Adolesc Gynecol       Date:  2019-08-26       Impact factor: 1.814

2.  MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature.

Authors:  Andrea Granados; Veronica I Alaniz; Lauren Mohnach; Hayk Barseghyan; Eric Vilain; Harry Ostrer; Elisabeth H Quint; Ming Chen; Catherine E Keegan
Journal:  Am J Med Genet C Semin Med Genet       Date:  2017-05-15       Impact factor: 3.908

3.  Bilateral Ovarian Germ Cell Tumor in a 46,XX Female with Nijmegen Breakage Syndrome and Hypergonadotropic Hypogonadism

Authors:  Malgorzata A. Krawczyk; Malgorzata Styczewska; Dorota Birkholz-Walerzak; Mariola Iliszko; Beata S. Lipska-Zietkiewicz; Wojciech Kosiak; Ninela Irga-Jaworska; Ewa Izycka-Swieszewska; Ewa Bien
Journal:  J Clin Res Pediatr Endocrinol       Date:  2021-09-21

Review 4.  Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents.

Authors:  Erica M Weidler; Margaret Pearson; Kathleen van Leeuwen; Erin Garvey
Journal:  Semin Pediatr Surg       Date:  2019-09-19       Impact factor: 2.754

5.  Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype.

Authors:  Lindsey Guzewicz; Susan Howell; Canice E Crerand; Hailey Umbaugh; Natalie J Nokoff; Jennifer Barker; Shanlee M Davis
Journal:  Am J Med Genet A       Date:  2021-02-22       Impact factor: 2.802

6.  Identification of a novel MAP3K1 variant in a family with 46, XY DSD and partial growth hormone deficiency.

Authors:  Yiping Cheng; Chao Xu; Jiangfei Yang; Xinli Zhou; Nan Chen
Journal:  Mol Med Rep       Date:  2022-09-14       Impact factor: 3.423

7.  Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.

Authors:  Liangsheng Lu; Feihong Luo; Xiang Wang
Journal:  Front Pediatr       Date:  2022-07-22       Impact factor: 3.569

Review 8.  Predicting Gonadal Germ Cell Cancer in People with Disorders of Sex Development; Insights from Developmental Biology.

Authors:  Leendert H J Looijenga; Chia-Sui Kao; Muhammad T Idrees
Journal:  Int J Mol Sci       Date:  2019-10-10       Impact factor: 5.923

Review 9.  Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.

Authors:  Yolande van Bever; Hennie T Brüggenwirth; Katja P Wolffenbuttel; Arianne B Dessens; Irene A L Groenenberg; Maarten F C M Knapen; Elfride De Baere; Martine Cools; Conny M A van Ravenswaaij-Arts; Birgit Sikkema-Raddatz; Hedi Claahsen-van der Grinten; Marlies Kempers; Tuula Rinne; Remko Hersmus; Leendert Looijenga; Sabine E Hannema
Journal:  J Med Genet       Date:  2020-04-17       Impact factor: 6.318
  9 in total

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