scholarly journals A case of ovarian dysgerminoma with gonadal dysgenesis in 29-year-old woman with 46,XX karyotype

2012 ◽  
Vol 55 (10) ◽  
pp. 772
Author(s):  
So-yeon Yoon ◽  
Hyang Gi Park ◽  
Jin Yi Kuk ◽  
Soon Ae Oak ◽  
Jong Hoon Park
2017 ◽  
Vol 3 (4) ◽  
pp. 36-38
Author(s):  
Diego Armando Guerrero Gómez ◽  
Yessica Agudelo Zapata ◽  
Hector Sandoval Alzate ◽  
Luis Maldonado Acosta ◽  
Juan Manuel Arteaga Díaz ◽  
...  

La amenorrea primaria representa un reto diagnóstico para el médico general y especialista, dado que el espectro etiológico es amplio y se requiere de un adecuado enfoque para garantizar una correcta orientación terapéutica.Se presenta el caso de una paciente de 18 años de edad con amenorrea primaria, quien a los 15 años presentó cuadro de abdomen agudo por disgerminoma ovárico. Cariotipo reportado como 46XY, configuró el diagnóstico de disgenesia gonadal pura o síndrome de Swyer.El presente reporte de caso ilustra los principales hallazgos de la disgenesia gonadal pura y ejemplifica el abordaje secuencial diagnóstico de una paciente con amenorrea primaria.Abstract Primary amenorrhea is a diagnostic challenge for Specialists and Primary Care Physicians, for proper treatment is required to perform a clinical approach and rule out differential diagnoses.This is a case report of a 18 years old patient with primary amenorrhea, who at age of 15 years old presented acute abdomen for ovarian dysgerminoma. Karyotype reported 46XY, and pure gonadal dysgenesis (Swyer syndrome) was diagnosed. This case report illustrates the main clinical features of pure gonadal dysgenesis and the primary amenorrhea›s clinical approach.


1965 ◽  
Vol 49 (4_Suppl) ◽  
pp. S17
Author(s):  
J. J. van der Werff ten Bosch

1974 ◽  
Vol 77 (1_Suppl) ◽  
pp. S47
Author(s):  
H. Cramer ◽  
R. Buchholz ◽  
E. Daume ◽  
H. Kalbfleisch ◽  
G. Sturm

2014 ◽  
Author(s):  
Vasundhera Chauhan ◽  
Madan Lal Khurana ◽  
Poonam Gupta ◽  
Iram Sabir ◽  
A.C Ammini

2021 ◽  
pp. 141-146
Author(s):  
Reda Youssef ◽  
Gamal Sayed Ahmed ◽  
Samir Alhyassat ◽  
Sanaa Badr ◽  
Ahmed Sabry ◽  
...  

Dysgerminoma is an uncommon malignant tumor arising from the germ cells of the ovary. Its association with pregnancy is extremely rare, with a reported incidence of about 0.2–1 per 100,000 pregnancies. Women in the reproductive age group are more commonly affected. It can be extremely rare to conceive naturally, without assisted reproductive interventions, in cases with ovarian dysgerminoma. If a pregnancy does occur with a concurrent dysgerminoma, it is even more unusual to carry the pregnancy to viability or childbirth without fetal or maternal compromise. We report a case of right ovarian dysgerminoma in a young female with a viable intrauterine pregnancy at 10 weeks, which is rarely diagnosed and managed at this gestational age. Numerous factors played a role in her favorable outcome, including early suspicion by ultrasound and presenting history, surgery, histopathological assessment, imaging, and involvement of the multidisciplinary oncology team. Ovarian neoplasms may rapidly increase in size within a short period with little or no symptoms. This poses a diagnostic challenge for obstetricians and oncologists. Hence, we aimed to evaluate the role of imaging in pregnancy using ultrasound as an imaging modality for both early detection of ovarian neoplasms and for follow-up. In conclusion, patients with ovarian dysgerminoma in pregnancy can have favorable outcomes. Treatment should be individualized on a case-to-case basis, depending on many factors; cancer stage, previous reproductive history, the impact of imaging in staging or follow-up of tumor on the fetus, fetal gestational age, and whether termination of the pregnancy can improve survival or morbidity for the mother.


Genetics ◽  
2002 ◽  
Vol 161 (1) ◽  
pp. 195-204 ◽  
Author(s):  
Michael J Simmons ◽  
Kevin J Haley ◽  
Craig D Grimes ◽  
John D Raymond ◽  
Jarad B Niemi

Abstract Drosophila were genetically transformed with a hobo transgene that contains a terminally truncated but otherwise complete P element fused to the promoter from the Drosophila hsp70 gene. Insertions of this H(hsp/CP) transgene on either of the major autosomes produced the P transposase in both the male and female germlines, but not in the soma. Heat-shock treatments significantly increased transposase activity in the female germline; in the male germline, these treatments had little effect. The transposase activity of two insertions of the H(hsp/CP) transgene was not significantly greater than their separate activities, and one insertion of this transgene reduced the transposase activity of P(ry+, Δ2-3)99B, a stable P transgene, in the germline as well as in the soma. These observations suggest that, through alternate splicing, the H(hsp/CP) transgene produces a repressor that feeds back negatively to regulate transposase expression or function in both the somatic and germline tissues. The H(hsp/CP) transgenes are able to induce gonadal dysgenesis when the transposase they encode has P-element targets to attack. However, this ability and the ability to induce P-element excisions are repressed by the P cytotype, a chromosomal/cytoplasmic state that regulates P elements in the germline.


Sign in / Sign up

Export Citation Format

Share Document