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   Articles with "gonadal dysgenesis" as a keyword



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Gene dosage of DAX-1, determining in sexual differentiation: duplication of DAX-1 in two sisters with gonadal dysgenesis

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recommendations! Published in 2019 at "Molecular Biology Reports"

DOI: 10.1007/s11033-019-04758-y

Abstract: Two sisters phenotypically normal females, presenting with tumor abdominal mass with histopathological findings of teratoma and gonadoblastoma associated to 46,XY male-to-female sex reversal syndrome, secondary to a duplication in DAX-1, possibly inherited of maternal gonadal… read more here.

Keywords: two sisters; dax; gonadal dysgenesis; duplication ... See more keywords
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Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.

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recommendations! Published in 2018 at "Gene"

DOI: 10.1016/j.gene.2018.01.076

Abstract: Sex-determining region of the Y chromosome (SRY) gene plays a crucial role in male sexual differentiation and development. Several mutations in the SRY gene have been reported in the high mobility group (HMG) box domain… read more here.

Keywords: gonadal dysgenesis; sry; sry gene; gene ... See more keywords

Hormonal Stimulation in a Gonadal Dysgenesis Mare.

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recommendations! Published in 2020 at "Journal of equine veterinary science"

DOI: 10.1016/j.jevs.2020.103154

Abstract: The present case report aimed to determine the responsiveness of the endometrium and the ovaries of an X0 mare after hormonal treatment. On transrectal palpation, the uterus was flaccid and smaller than normal, and the… read more here.

Keywords: gonadal dysgenesis; stimulation; stimulation gonadal; mare hormonal ... See more keywords
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'Size does matter': Prophylactic gonadectomy in a case of Swyer syndrome.

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recommendations! Published in 2019 at "Journal of gynecology obstetrics and human reproduction"

DOI: 10.1016/j.jogoh.2019.01.009

Abstract: Swyer syndrome also known as pure or complete gonadal dysgenesis is a very rare disorder of sex development wherein the individuals are phenotypically females with 46, XY genotype and preserved mullerian structures. These individuals characteristically… read more here.

Keywords: gonadal dysgenesis; prophylactic gonadectomy; case; size ... See more keywords
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Cognitive abilities in women with complete androgen insensitivity syndrome and women with gonadal dysgenesis

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recommendations! Published in 2018 at "Psychoneuroendocrinology"

DOI: 10.1016/j.psyneuen.2018.05.003

Abstract: BACKGROUND Many questions regarding the mechanisms behind sex differences in cognitive abilities are still unanswered. On a group level, men typically outperform women on certain spatial tasks, whereas women perform better on certain tests of… read more here.

Keywords: gonadal dysgenesis; cognitive abilities; sex; complete androgen ... See more keywords
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Effects of genomic instability in populations of Drosophila melanogaster from regions of Ukraine with different impact of radiation factors

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recommendations! Published in 2022 at "International Journal of Radiation Biology"

DOI: 10.1080/09553002.2022.2110309

Abstract: Abstract Purpose To investigate differences in the gonadal dysgenesis frequency as one of the indicators of genome instability through natural populations of Drosophіla melanogaster, selected from Ukrainian regions with different radiation impacts. Follow-up study of… read more here.

Keywords: instability; impact; gonadal dysgenesis; radiation ... See more keywords
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Undetectable anti-Mullerian hormone and inhibin B do not preclude the presence of germ cell tumours in 45,X/46,XY or 46,XY gonadal dysgenesis.

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recommendations! Published in 2023 at "Clinical endocrinology"

DOI: 10.1111/cen.14909

Abstract: Individuals with 45,X/46,XY or 46,XY gonadal dysgenesis are at increased risk of germ cell malignancies. Therefore, prophylactic bilateral gonadectomy is advised in girls and considered in boys with atypical genitalia for undescended, macroscopically abnormal gonads.… read more here.

Keywords: germ cell; hormone; germ; gonadal dysgenesis ... See more keywords
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Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β‐catenin

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recommendations! Published in 2018 at "Clinical Genetics"

DOI: 10.1111/cge.13165

Abstract: Filamin B (FLNB) functions as a switch that can affect chrondrocyte development and endochondral bone formation through a series of signaling molecules and transcription factors that also affect Sertoli cell development. Here, we report a… read more here.

Keywords: flnb; mutations flnb; gonadal dysgenesis; biallelic mutations ... See more keywords

46, XY complete gonadal dysgenesis with pubertal virilisation due to dysgerminoma/gonadoblastoma

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recommendations! Published in 2020 at "BMJ Case Reports"

DOI: 10.1136/bcr-2020-235501

Abstract: Complete gonadal dysgenesis (CGD) or Swyer syndrome is characterised by sexual infantilism in a phenotypic female with 46, XY karyotype. Patients with gonadal dysgenesis and Y-chromosome material are at a high risk of developing gonadoblastoma… read more here.

Keywords: virilisation; dysgerminoma gonadoblastoma; gonadal dysgenesis; complete gonadal ... See more keywords
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Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis

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recommendations! Published in 2022 at "Journal of Medical Genetics"

DOI: 10.1136/jmg-2022-108635

Abstract: Background Duplications at the Xp21.2 locus have previously been linked to 46,XY gonadal dysgenesis (GD), which is thought to result from gene dosage effects of NR0B1 (DAX1), but the exact disease mechanism remains unknown. Methods… read more here.

Keywords: disruption topologically; xp21; gonadal dysgenesis; associated domain ... See more keywords

Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

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recommendations! Published in 2021 at "European Journal of Endocrinology"

DOI: 10.1530/eje-21-0910

Abstract: Context Homozygous and heterozygous variants in PPP2R3C are associated with syndromic 46,XY complete gonadal dysgenesis (Myo-Ectodermo-Gonadal Dysgenesis (MEGD) syndrome), and impaired spermatogenesis, respectively. This study expands the role of PPP2R3C in the aetiology of gonadal… read more here.

Keywords: spectrum gonadal; ppp2r3c; gonadal dysgenesis; variant ... See more keywords