scholarly journals A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene

2020 ◽  
Vol 9 (6) ◽  
pp. 867-872
Author(s):  
Ke Xu ◽  
Na Su ◽  
Hong Zhang ◽  
Jingxin Zhu ◽  
Xinran Cheng
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Region Gene ◽  
Partial Gonadal Dysgenesis

scholarly journals 220 46,XY disorder of sex development – partial gonadal dysgenesis – case report

2021 ◽  
Author(s):  
Matea Melša ◽  
Miram Pasini ◽  
Nevena Krnić ◽  
Marija Mikloš ◽  
Kristina Crkvenac Gornik ◽  
...  
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Disorder Of Sex Development ◽  
Sex Development ◽  
Partial Gonadal Dysgenesis

scholarly journals A Novel Mutation of desert hedgehog in a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy

2000 ◽  
Vol 67 (5) ◽  
pp. 1302-1305 ◽  
Author(s):  
Fujio Umehara ◽  
Genshu Tate ◽  
Kayoko Itoh ◽  
Naoki Yamaguchi ◽  
Tsutomu Douchi ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Desert Hedgehog ◽  
Partial Gonadal Dysgenesis

scholarly journals A Novel Mutation ofdesert hedgehogin a Patient with 46,XY Partial Gonadal Dysgenesis Accompanied by Minifascicular Neuropathy

2000 ◽  
Vol 67 (5) ◽  
pp. 1302-1305 ◽  
Author(s):  
Fujio Umehara ◽  
Genshu Tate ◽  
Kayoko Itoh ◽  
Naoki Yamaguchi ◽  
Tsutomu Douchi ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Novel Mutation ◽  
Partial Gonadal Dysgenesis

scholarly journals Rupture and hemorrhage of a seminoma mixed with yolk sac tumors in 46XY partial gonadal dysgenesis: a case report and literature review

BMC Surgery ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Rui Lin ◽  
Nanbin Liu ◽  
Xiuyan Wang ◽  
Xuyou Zhu ◽  
Daojing Huang ◽  
...  
Keyword(s):  
Abdominal Pain ◽  
Case Report ◽  
Literature Review ◽  
Germ Cell ◽  
Gonadal Dysgenesis ◽  
Yolk Sac ◽  
Sex Development ◽  
Yolk Sac Tumors ◽  
Partial Gonadal Dysgenesis ◽  
The Right

Abstract Background 46XY partial gonadal dysgenesis (PGD) is a rare subtype of disorder of sex development (DSD). 46YY PGD is a congenital disease with atypical chromosomal, gonadal, or anatomical sex development. The patient in this case report had male and female genitalia simultaneously. We created a flowchart of the differential diagnosis for clinicians. Case presentation A 41-year-old male was admitted to the hospital complaining of lower quadrant abdominal pain for 1 day. Physical examination revealed that his penis size was normal, but a urethral orifice was located in the perineum area between the scrotum and anus. One small testicle was in the left scrotum, but no testicle was present on the right. The patient’s abdomen was bulging, and he had lower abdominal pain. According to the emergency CT scan, a lesion (74*65 mm) was found in the right pelvis between the bladder and rectum. The lesion showed an unclear boundary and hematocele appearance. The lesion was removed by emergency surgery, and the pathology report indicated a mixed germ cell tumor with a seminoma and yolk sac tumors. Conclusion This article is a case report of germ cell tumors in 46XY PGD patients. The literature review summarizes the clinical diagnosis, and a flowchart is provided for physicians in future practice. The importance of this report is that it will help acquaint physicians with this rare disease and make the right initial clinical decision quickly through the use of this flowchart. However, the variants of special subtypes of 46XY DSD are myriad, and all the diagnoses could not be covered in one flowchart.

Rhabdomyolysis, Acute Kidney Injury, and a Novel Frameshift Mutation in a Child with Glutaric Acidemia Type I

Nephron ◽  
2021 ◽  
pp. 1-6
Author(s):  
Linlin Huang ◽  
Ting Shi ◽  
Ying Li ◽  
Xiaozhong Li
Keyword(s):  
Acute Kidney Injury ◽  
Case Report ◽  
Frameshift Mutation ◽  
Novel Mutation ◽  
Kidney Injury ◽  
Febrile Illness ◽  
Type I ◽  
Continuous Venovenous Hemodiafiltration ◽  
Glutaric Acidemia Type I ◽  
Acute Decompensation

This is a case report of a girl with glutaric acidemia type I (GA-I) who experienced rhabdomyolysis and acute kidney injury (AKI). Her first acute metabolic crisis occurred at the age of 5 months, which mainly manifested as irritable crying, poor appetite, and hyperlactatemia. Mutation analysis showed 2 pathogenic mutations in the glutaryl-CoA dehydrogenase (GCDH) gene, which were c.383G>A (p.R128Q) and c.873delC (p.N291Kfs*41), the latter of which is a novel frameshift mutation of GA-I. She had a febrile illness at the age of 12 months, followed by AKI and severe rhabdomyolysis. Four days of continuous venovenous hemodiafiltration (CVVHDF) helped to overcome this acute decompensation. This case report describes a novel mutation in the GCDH gene, that is, c.873delC (p.N291Kfs*41). Also, it highlights the fact that patients with GA-I have a high risk of rhabdomyolysis and AKI, which may be induced by febrile diseases and hyperosmotic dehydration; CVVHDF can help to overcome this acute decompensation.

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations

2016 ◽  
Vol 10 (4) ◽  
pp. 191-199 ◽  
Author(s):  
Helena C. Fabbri ◽  
Juliana G. Ribeiro de Andrade ◽  
Andréa T. Maciel-Guerra ◽  
Gil Guerra-Júnior ◽  
Maricilda P. de Mello
Keyword(s):  
Gonadal Dysgenesis ◽  
Loss Of Function ◽  
Novel Mutations ◽  
Partial Gonadal Dysgenesis

scholarly journals A rare case report of 46XY mixed gonadal dysgenesis

2013 ◽  
Vol 17 (7) ◽  
pp. 268 ◽  
Author(s):  
Sujoy Ghosh ◽  
Satinath Mukhopadhyay ◽  
Subhankar Chowdhury ◽  
Rakesh Arora ◽  
Saumik Datta ◽  
...  
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Rare Case ◽  
Mixed Gonadal Dysgenesis ◽  
Rare Case Report
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