scholarly journals Homozygous DMRT1 mutation c.967G>A found in a Chinese patient with 46,XY complete gonadal dysgenesis and review of literature

2021 ◽  
Author(s):  
Yang Liu ◽  
Zhang Jiaxun ◽  
Zhang Li ◽  
Geng Qian ◽  
Zhiyong Xu ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Chinese Patient ◽  
Chinese Woman ◽  
Homozygous Mutation ◽  
Review Of Literature ◽  
Dmrt1 Gene ◽  
First Case ◽  
Clinicopathologic Findings ◽  
Complete Gonadal Dysgenesis

A Chinese woman with 46,XY CGD was diagnosed by clinicopathologic findings . A homozygous mutation c.967G>A(p. Val323Ile) in the DMRT1 gene was detected in the patient by WES. As far as we know, this is the first case of 46,XY CGD caused by a homozygous mutation in the DMRT1 gene.

scholarly journals EARLY-ONSET GONADOBLASTOMA IN A 13-MONTH-OLD INFANT WITH 46,XY COMPLETE GONADAL DYSGENESIS IDENTIFIED WITH PRENATAL TESTING: A CASE OF CHROMOSOME 9p DELETION

2019 ◽  
Vol 5 (6) ◽  
pp. e380-e383
Author(s):  
Meghan E. Fredette ◽  
Katelyn Cusmano ◽  
Chanika Phornphutkul ◽  
Jennifer Schwab ◽  
Anthony Caldamone ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Gonadal Dysgenesis ◽  
Prenatal Testing ◽  
Testicular Development ◽  
Disorders Of Sexual Development ◽  
Current Recommendation ◽  
Fetal Ultrasound ◽  
Dmrt1 Gene ◽  
Chromosome 9P ◽  
Complete Gonadal Dysgenesis

Objective: Individuals with 46,XY complete gonadal dysgenesis (CGD) are at high risk of developing gonadal neoplasms. Chromosome 9p monosomy with deletion of the DMRT1 gene, a key transcription factor in testicular development, is one of the known causes of 46,XY CGD. Noninvasive prenatal testing (NIPT) is being increasingly used, and can identify disorders of sexual development (DSDs). Methods: We report the case of a 46,XY infant with phenotypically female external genitalia, müllerian structures including uterus and fallopian tubes, and bilateral streak gonads who was found to have unilateral gonadoblastoma at 13 months. 46,XY DSD was suggested prenatally when discordance between NIPT and fetal ultrasound was noted. Results: Genetic investigation revealed a deletion of 12.5 million base pairs at chromosome 9p24.3, which includes the doublesex and MAB-3-related transcription factor-1 ( DMRT1) gene. Conclusion: Current guidelines recommend gonadectomy at the time of diagnosis in cases of 46,XY CGD, and our patient had gonadoblastoma at 13 months. 46,XY DSD, including rare disorders such as CGD, will be increasingly identified before birth with more widespread use of NIPT, raising the question about the appropriate timing of gonadectomy in prenatal diagnoses. Our case supports the current recommendation to perform gonadectomy as early as possible after diagnosis.

scholarly journals A novel mutation in the SRY gene causing 46 XY complete gonadal dysgenesis in a Chinese patient

2013 ◽  
Vol 2013 (Suppl 1) ◽  
pp. P189
Author(s):  
Elim Man ◽  
Yuet-Ling Tung ◽  
Ho-Ming Luk ◽  
Fai-Man Lo ◽  
Tak-Sum Lam ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Sry Gene ◽  
Complete Gonadal Dysgenesis

Transverse testicular ectopia: two rare adult cases and a review of literature

2020 ◽  
Vol 13 (5) ◽  
pp. e232240
Author(s):  
Milap Shah ◽  
Aviansh Odugoudar ◽  
Arun Chawla ◽  
Zeeshan BM Hameed
Keyword(s):  
Gonadal Dysgenesis ◽  
Mesh Fixation ◽  
Review Of Literature ◽  
Indirect Hernia ◽  
Left Testis ◽  
Transverse Testicular Ectopia ◽  
First Case ◽  
Partial Gonadal Dysgenesis ◽  
Work Up ◽  
Strong Suspicion

The first case is a 45-year-old man who presented with complaints of right-sided indirect hernia. On examination the left hemiscrotum was empty. Open hernioplasty and mesh fixation with orchiopexy of both testes were done in the same hemiscrotum, followed by MRI for further evaluation. The second case is a 26-year-old man who presented with penoscrotal hypospadias and empty left hemiscrotum, with the left testis not palpable in the scrotum or the inguinal region. MRI, karyotyping and laparoscopic orchidectomy were performed, followed by endocrinology work-up. From our experience, preoperative diagnosis with ultrasonography and/or MRI prior to diagnostic laproscopy is benifical when there is a strong suspicion of mullerian duct remnants. In other cases, diagnostic laparoscopy can be useful in diagnosis and management. Placement of both testes in the same hemiscrotum can be considered safe, although not ideal. Also, in cases with partial gonadal dysgenesis, laparoscopic orchidectomy along with excision of the mullerian remnantsis a better approach than orchiopexy.

Delivering a shared library management system for Wales

2016 ◽  
Vol 37 (6/7) ◽  
pp. 385-395 ◽  
Author(s):  
Gareth Wyn Owen
Keyword(s):  
Management System ◽  
Review Of Literature ◽  
Content Type ◽  
Implementation Phase ◽  
Library Management ◽  
First Case ◽  
Library Management System ◽  
The Uk ◽  
Practical Implications

Purpose A case study of the Wales Higher Education Libraries Forum (WHELF) project to procure and implement a shared library management system (LMS) for all universities in Wales, together with the National Health Service Libraries in Wales and the National Library of Wales. In particular, the purpose of this paper is to explore the drivers to this collaboration, outline the benefits achieved and the framework to realise further benefits. Design/methodology/approach Case study review of the process, together with a review of literature on consortia and LMSs. Findings WHELF has developed into a more mature consortium through procuring and implementing a shared LMS. The process has delivered tangible benefits and is driving more work to realise further benefits. Research limitations/implications As the WHELF Shared LMS project is only nearing the end of the implementation phase, many of the anticipated operational benefits cannot be reported. Practical implications Useful case study for other consortia or potential consortia. Originality/value WHELF is in vanguard of consortia developments in the UK, and this is the first case study of the project.

scholarly journals Breast necrosis induced by the use of coumadin: case report and review of literature

2015 ◽  
Vol 13 (3) ◽  
pp. 417-419 ◽  
Author(s):  
Dani Ejzenberg ◽  
Lucienne Pereira Del Grossi Neusquen ◽  
Daniel Lorber Rolnik ◽  
Adriana Chebar Lozinsky ◽  
José Roberto Morales Piato
Keyword(s):  
Case Report ◽  
Skin Necrosis ◽  
Review Of Literature ◽  
First Case

The coumadin-induced skin necrosis is rare and occurs more frequently in the breasts, thighs and buttocks. We describe the first case of coumadin necrosis of the breast in Brazil in a 62-year-old patient.

scholarly journals A Novel Mutation Causing 17-β-Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Omani Child: First Case Report and Review of Literature

2015 ◽  
Vol 30 (2) ◽  
pp. 129-134 ◽  
Author(s):  
Aisha Al-Sinani ◽  
Waad-Allah Mula-Abed ◽  
Manal Al-Kindi ◽  
Ghariba Al-Kusaibi ◽  
Hanan Al-Azkawi ◽  
...  
Keyword(s):  
Case Report ◽  
Novel Mutation ◽  
Hydroxysteroid Dehydrogenase ◽  
Review Of Literature ◽  
First Case ◽  
Type 3

scholarly journals CLINICAL CASE OF A SUCCESSFUL PREGNANCY WITH THE COMPLETE FORM OF GONADAL DYSGENESIS - SWYER SYNDROME

2019 ◽  
Vol 6 (4) ◽  
pp. 225-228
Author(s):  
Elena V. Timokhina ◽  
N. V Afanas’yeva ◽  
Yu. A Samoylova ◽  
T. M Silayeva ◽  
V. S Belousova ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gonadal Dysgenesis ◽  
Clinical Case ◽  
Reproductive Technology ◽  
Sry Gene ◽  
Successful Pregnancy ◽  
Pregnancy And Delivery ◽  
Complete Form ◽  
Swyer Syndrome ◽  
Complete Gonadal Dysgenesis

Swyer syndrome (46,XY complete gonadal dysgenesis) is a rare chromosomal pathology. This pathology occurs with a frequency of 1 in 80,000. In genetic analysis, mutations are most often found in the following genes: the SRY gene, the NR5A1 gene, the SOX9 gene, the MAP3K1 gene. Patients with this disease develop phenotypically as women, but due to the absence of gonads and eggs, independent pregnancy is impossible. This article describes a clinical case of a successful onset, course of pregnancy and delivery in a woman with Swyer syndrome using assisted reproductive technology.

scholarly journals Angiomyolipoma with caval extension and regional nodal involvement: Aggressive behaviour or just rare natural history? Case report and review of literature

2014 ◽  
Vol 8 (3-4) ◽  
pp. 276 ◽  
Author(s):  
Kamaljot Singh Kaler ◽  
Rebekah Rittberg ◽  
Darrel Edmond Drachenberg
Keyword(s):  
Renal Cell Carcinoma ◽  
Case Report ◽  
Natural History ◽  
Renal Cell ◽  
Young Female ◽  
Renal Angiomyolipoma ◽  
Review Of Literature ◽  
Nodal Involvement ◽  
Regional Lymph Nodes ◽  
First Case

Renal angiomyolipoma (AML) is predominantly a non-aggressive benign tumour. Cases of more aggressive AMLs are present in the literature. We present 2 cases of aggressive AML behaviour. The first case is an AML with vascular extension in a young female and the second case is of AML found in regional lymph nodes in a female with a left renal AML and renal cell carcinoma.

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