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The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD) [PDF]

Advances in Laboratory Medicine, 2021
The development of female or male sex characteristics occurs during fetal life, when the genetic, gonadal, and internal and external genital sex is determined (female or male). Any discordance among sex determination and differentiation stages results in
Granada Maria Luisa, Audí Laura
doaj   +5 more sources

Navigating Surgical Decision Making in Disorders of Sex Development (DSD) [PDF]

Frontiers in Pediatrics, 2018
Surgical management of disorders of sex development (DSD) is associated with contentious debate between and within stakeholder communities. While the intent of surgical management of the genitals and gonads is to benefit the patient physically and ...
Melissa Gardner, David E. Sandberg
doaj   +2 more sources

Stage IIIC Bilateral Dysgerminoma in a 16-Year-Old Phenotypic Female With 46,XY Complete Gonadal Dysgenesis and Primary Amenorrhea: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Dysgerminoma, the most common malignant ovarian germ cell tumor, has a significantly increased incidence in individuals with 46,XY complete gonadal dysgenesis (Swyer syndrome). However, primary amenorrhea is the hallmark presentation of Swyer syndrome in adolescence.
Vasef M, Afshar Moghaddam N, Raoufi M, Iranipour M, Moghadami S.   +4 more
europepmc   +2 more sources

Disorders of sex development (DSD): Clinical service delivery in the United States [PDF]

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2017
Melissa Gardner, Kathleen van Leeuwen, Lauren Mohnach   +2 more
exaly   +2 more sources

Clinical сase of disorder of sex development with karyotype 47XYY

Медицинский вестник Юга России, 2023
Disorder of sex development (DSD) is a term used to refer to congenital disorders that led to atypical structure of the genitals. The cause of DSD is a disorder of the embryonic development of the reproductive system due to chromosomal, genetic pathology
M. R. Shaydullina, N. R. Akramov, F. V. Valeeva, Z. R. Alimetova, E. V. Kolbasina   +4 more
doaj   +1 more source

Current status of disorders of sexual development in Indonesia

Advances in Human Biology, 2022
Disorders of Sex Development (DSD) rise challenges in various aspects of life due to the abnormalities in the patients' sex chromosomes, gonads or reproductive organs. Its causes are often due to genetic and environmental factors.
Ziske Maritska, Erlangga Danu Saputro, Randy Pangestu, Extin Faulinza, Marda Sakinah, Fenny Pranandita, Flavia Angelina Satopoh, Ivani Ridwan, Sarah Amalia   +8 more
doaj   +1 more source

Disorders of Sex Development of Adrenal Origin

Frontiers in Endocrinology, 2021
Disorders of Sex Development (DSD) are anomalies occurring in the process of fetal sexual differentiation that result in a discordance between the chromosomal sex and the sex of the gonads and/or the internal and/or external genitalia.
Gabriela P. Finkielstain, Ana Vieites, Ignacio Bergadá, Rodolfo A. Rey, Rodolfo A. Rey   +4 more
doaj   +1 more source

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development

BMC Medical Genomics, 2022
Background Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical.
Jia Wei, Jiaqi Wu, Wei Ru, Guangjie Chen, Lei Gao, Daxing Tang   +5 more
doaj   +1 more source

Written surgical informed consent elements in pediatric differences of sex development: pediatric urologist and endocrinologist perspectives

Frontiers in Urology, 2023
IntroductionElective aspects of surgical management of pediatric differences of sex development (DSD) are associated with controversy. We examined North American pediatric urologist and endocrinologist perspectives regarding recommended and existing ...
Zoe K. Lapham, Melissa Gardner, Sydney Sheinker, Sydney Sheinker, Kristina I. Suorsa-Johnson, Barry A. Kogan, Peter A. Lee, David E. Sandberg, David E. Sandberg   +8 more
doaj   +1 more source

Imaging Evaluation of Disorders of Sex Development

Journal of Gastrointestinal and Abdominal Radiology, 2020
Disorders of sex development (DSD) refer to congenital conditions with a typical development of chromosomal, gonadal, or anatomic sex. In the revised classification of DSD, there are three categories based on karyotype: 46,XX DSD; 46,XY DSD; and sex ...
Anu Eapen, Anuradha Chandramohan, Betty Simon, Tharani Putta, Reetu John, Aruna Kekre   +5 more
doaj   +1 more source