Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 [PDF]
, 2015 Disorders of sex development (DSDs) encompass a broad spectrum of conditions affecting the development of the gonads and genitalia. The underlying causes for DSDs include gain or loss of function variants in genes responsible for gonad development or ...
Bahlo, M. (Melanie) +9 more
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Classical gonadoblastoma: its relationship to the “dissecting” variant and undifferentiated gonadal tissue [PDF]
, 2017 Classical gonadoblastoma occurs almost entirely in the dysgenetic gonads of an individual who has a disorder of sex development. Approximately 40% of such neoplasms are bilateral.
Cheng, Liang, Roth, Lawrence M.
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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 +2 more
doaj +1 more source
OR15-5 Human Sex Determination at the Edge of Ambiguity: Impaired SRY Phosphorylation Attenuates Expression of the Male Program [PDF]
, 2019 A paradox is posed by metazoan gene-regulatory networks (GRNs) that are robust yet evolvable. Insight may be obtained through studies of bistable genetic circuits mediating developmental decisions. A model in organogenesis is provided by the sex-specific
Chen, Yen-Shan +3 more
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"Human sex differentiation: From transcription factors to gender" [PDF]
, 2000 Amy B. Wiesniewski is an Assistant Professor of Biology at Drake University, Des Moines, Iowa. She can be contacted at amy.wisniewski@drake.eduOver the past decade, knowledge of the genetic control of human sex differentiation has greately expanded our ...
Migeon, Claude J., Wisniewski, Amy B.
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Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis
The Turkish Journal of Pediatrics, 2016 46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years.
Melikşah Keskin +6 more
doaj +1 more source
Incidental gonadal tumors at the time of gonadectomy in women with Swyer syndrome: a case series [PDF]
, 2015 Background: Swyer syndrome (46XY complete gonadal dysgenesis) is an uncommonly encountered condition in our population. Gonadectomy is recommended upon diagnosis due to a significant risk of malignant transformation of the dysgenetic gonads, typically to
Hanlon, Amie J. M., Kimble, Rebecca M.
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Swyer syndrome: The gender swayer?
Alexandria Journal of Medicine, 2017 46XY complete gonadal dysgenesis (SWYER SYNDROME) is a rare type of Disorder of Sex Development. Herein we report a 15 years-old child, reared as female, presented with complaints of primary amenorrhoea, without short stature or Turner’s stigmata ...
Jaideep Khare +3 more
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Nature Communications, 2023 Squamous cell carcinoma antigen recognized by T cells 3 (SART3) is an RNA-binding protein with numerous biological functions including recycling small nuclear RNAs to the spliceosome.
Katie L. Ayers +42 more
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DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. [PDF]
, 2015 DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita.
Achermann, JC +3 more
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