Results 11 to 20 of about 5,340 (169)
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 RepABSTRACT 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 +4 more
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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 +4 more
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A rare cause for primary amenorrhea: Sporadic perrault syndrome
Indian Journal of Endocrinology and Metabolism, 2012 Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault ...
K H Noorul Ameen, Rakesh Pinninti
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A rare cause for primary amenorrhoea
Journal of Human Reproductive Sciences, 2012 Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault′s
Kaderthambi Hajamohideen Noorul Ameen +1 more
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International Journal of Endocrinology, 2012 A 160 kb minimal common region in Xp21 has been determined as the cause of XY gonadal dysgenesis, if duplicated. The region contains the MAGEB genes and the NR0B1 gene; this is the candidate for gonadal dysgenesis if overexpressed.
Michela Barbaro +3 more
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Dysgerminoma in three patients with Swyer syndrome
World Journal of Surgical Oncology, 2007 Background Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis and partial gonadal dysgenesis.
Karimi Zarchi Mojgan, Behtash Nadereh
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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 +2 more
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Genomic analysis of P elements in natural populations of Drosophila melanogaster [PDF]
PeerJ, 2017 The Drosophila melanogaster P transposable element provides one of the best cases of horizontal transfer of a mobile DNA sequence in eukaryotes. Invasion of natural populations by the P element has led to a syndrome of phenotypes known as P-M hybrid ...
Casey M. Bergman +4 more
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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
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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
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