The importance of determining karyotype in premenarchal females with gonadal dysgerminoma: two case reports

1991 ◽  
Vol 1 (3) ◽  
pp. 141-143 ◽  
Author(s):  
M. A. Steller ◽  
J. T. Soper ◽  
C. A. Szpak ◽  
J. T. Lanman ◽  
D. L. Clark-Pearson
Keyword(s):  
Germ Cell ◽  
Y Chromosome ◽  
Surgical Management ◽  
Gonadal Dysgenesis ◽  
Case Reports ◽  
Normal Appearance ◽  
Xy Gonadal Dysgenesis ◽  
Nulliparous Women ◽  
Female Genital ◽  
Cell Malignancy

Gonadal dysgerminomas developed in two girls, aged 12 and 15 years. Both were initially treated with conservative unilateral gonadectomy. Forty-six, XY gonadal dysgenesis was not suspected in either patient due to the normal appearance of the contralateral gonads and internal female genital organs. One died of a second germ cell malignancy which developed in the contralateral ovary 9½ years later. The diagnosis of 46, XY gonadal dysgenesis was established by karyotype in both patients. Although conservative surgical management is desirable for nulliparous women with unilateral dysgerminomas, the presence of 46, XY gonadal dysgenesis should be suspected in all premenarchal girls with ovarian germ cell malignancies. If karyotyping reveals the presence of an Y chromosome, bilateral gonadectomy is indicated because of the risk that another neoplasm may develop in the contralateral ovary.

Undifferentiated Gonadal Tissue, Y Chromosome Instability, and Tumors in XY Gonadal Dysgenesis

2011 ◽  
Vol 14 (6) ◽  
pp. 445-459 ◽  
Author(s):  
Mélanie Beaulieu Bergeron ◽  
Nicole Lemieux ◽  
Pierre Brochu
Keyword(s):  
Y Chromosome ◽  
Germ Cells ◽  
Gonadal Dysgenesis ◽  
Chromosome Instability ◽  
Neoplastic Transformation ◽  
Gonadal Tissue ◽  
Xy Gonadal Dysgenesis ◽  
Y Chromosomes ◽  
Increased Risk ◽  
Cytogenetic Analyses

Patients with XY gonadal dysgenesis are at increased risk of developing gonadal tumors. The etiology of several cases of XY gonadal dysgenesis remains unknown, but X/XY gonadal mosaicism has been hypothesized to play a role. At the histologic level, the presence of persistent primitive sex cords containing immature germ cells in dysgenetic gonads (an entity called undifferentiated gonadal tissue, or UGT) was recently described, and these immature germ cells are thought to be at risk of neoplastic transformation. To further investigate both these aspects, we retrospectively studied the gonads from 30 patients with pure (22) and mixed (8) gonadal dysgenesis. Cytogenetic analyses performed on 35 gonads revealed that structurally abnormal Y chromosomes were lost in a majority of cells from the gonads, explaining the gonadal dysgenesis of patients bearing a rearranged Y chromosome. On the other hand, normal Y chromosomes were less often lost in gonads of patients with gonadal dysgenesis. At the histologic level, 43 of the 51 gonads presented areas characteristic of a streak; 13 of these streak gonads also presented areas of UGT. Structures resembling sex cords but without germ cells were found in many of the streaks not containing UGT, suggesting that UGT was initially present. Of the 13 gonads containing both UGT and a streak, 9 developed a tumor. The proximity of UGT with the tumors as well as the immunostaining patterns (PLAP+, OCT3/4+, and CD117/KIT+) suggests that germ cells found in UGT are a risk factor for gonadal tumors.

High incidence of Y-chromosome microdeletions in gonadal tissues from patients with 45,X/46,XY gonadal dysgenesis

2008 ◽  
Vol 89 (2) ◽  
pp. 458-460 ◽  
Author(s):  
Francisco Álvarez-Nava ◽  
Herminia Puerta ◽  
Marisol Soto ◽  
Lennie Pineda ◽  
Ángel Temponi
Keyword(s):  
Y Chromosome ◽  
Gonadal Dysgenesis ◽  
Xy Gonadal Dysgenesis ◽  
Y Chromosome Microdeletions ◽  
High Incidence

scholarly journals Case Report: Non-microscopic surgical management of incomplete penile amputation

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 681
Author(s):  
Donny Eka Putra ◽  
Theddyon Bhenlie Apry Kusbin ◽  
Paksi Satyagraha ◽  
Stephanie Taneysa Widodo
Keyword(s):  
Surgical Management ◽  
Functional Outcomes ◽  
Case Reports ◽  
Case Description ◽  
Post Injury ◽  
Normal Appearance ◽  
Penile Amputation ◽  
Limited Experience ◽  
Choice Of Treatment ◽  
Ultrasound Investigation

Background: Penile amputation is an emergency urologic condition requiring immediate attention in order to maximize functional outcomes. Unfortunately, there is limited experience and publication of case reports describing the successful replantation of penis after incomplete amputation, especially in facilities without adequate microsurgical tools and means. We hereby present a case of penile amputation caused by a mechanical grass cutter and a discussion of its surgical management. Case description: A 33-year-old Indonesian male presented to the emergency department with incomplete penile amputation six hours post injury. The patient has no prior medical history and presented with penile amputation due to a mechanical grass cutter trauma. He underwent immediate non-microsurgery reconstructive replantation of the penis, reattaching all visible vascular, corporal, and fascia layers. After replantation, the patient recovered well and showed preserved normal appearance and sensitivity of the penis. Subsequent Doppler ultrasound investigation revealed adequate arterial flow at the distal end of the anastomosis. The patient was discharged five days after surgery.  Conclusion: In the absence of microsurgical tools and means, the use of non-microsurgical replantation should be the choice of treatment in the case of incomplete penile amputation. The technique showed good outcomes involving adequate functional and cosmetic restoration.

XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene

1995 ◽  
Vol 95 (1) ◽  
Author(s):  
AngelaS. Barbosa ◽  
Tha�sE. Ferraz-Costa ◽  
Mauro Semer ◽  
Bernardo Liberman ◽  
CarlosA. Moreira-Filho
Keyword(s):  
Y Chromosome ◽  
Gonadal Dysgenesis ◽  
Sry Gene ◽  
Xy Gonadal Dysgenesis

scholarly journals Gonadal dysgenesis in Turner syndrome with Y-chromosome mosaicism: Two case reports

2020 ◽  
Vol 8 (22) ◽  
pp. 5737-5743
Author(s):  
Xue-Fei Leng ◽  
Ke Lei ◽  
Yi Li ◽  
Fei Tian ◽  
Qin Yao ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Gonadal Dysgenesis ◽  
Case Reports ◽  
Chromosome Mosaicism

scholarly journals Case Report: Non-microscopic surgical management of incomplete penile amputation

F1000Research ◽  
2020 ◽  
Vol 9 ◽  
pp. 681
Author(s):  
Donny Eka Putra ◽  
Theddyon Bhenlie Apry Kusbin ◽  
Paksi Satyagraha ◽  
Stephanie Taneysa Widodo
Keyword(s):  
Surgical Management ◽  
Functional Outcomes ◽  
Case Reports ◽  
Post Injury ◽  
Normal Appearance ◽  
Penile Amputation ◽  
Limited Experience ◽  
Choice Of Treatment ◽  
Ultrasound Investigation ◽  
Loupe Magnification

Background: Penile amputation is an emergency urologic condition requiring immediate attention in order to maximize functional outcomes. Unfortunately, there is limited experience and publication of case reports describing the successful replantation of penis after incomplete amputation, especially in facilities without adequate microsurgical tools and means. We hereby present a case of penile amputation caused by a mechanical grass cutter and a discussion of its surgical management. Case description: A 33-year-old Indonesian male presented to the emergency department with incomplete penile amputation six hours post injury. The patient has no prior medical history and presented with penile amputation due to a mechanical grass cutter trauma. He underwent immediate non-microsurgery reconstructive replantation of the penis, reattaching all visible vascular, corporal, and fascia layers. After replantation, the patient recovered well and showed preserved normal appearance and sensitivity of the penis. Subsequent Doppler ultrasound investigation revealed adequate arterial flow at the distal end of the anastomosis. The patient was discharged five days after surgery.  Conclusion: In the absence of microsurgical tools and means, the use of non-microsurgical replantation with an at least 2.5x loupe magnification should be the choice of treatment in the case of incomplete penile amputation. The technique showed good outcomes involving adequate functional and cosmetic restoration.

Prepubertal XY Gonadal Dysgenesis

PEDIATRICS ◽  
1977 ◽  
Vol 59 (4) ◽  
pp. 569-573
Author(s):  
Koichiro Isurugi ◽  
Yoshio Aso ◽  
Hajime Ishida ◽  
Toru Suzuki ◽  
Tadao Kakizoe ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Genetic Predisposition ◽  
Gonadal Dysgenesis ◽  
Ovarian Tumor ◽  
Exploratory Laparotomy ◽  
Physical Development ◽  
Second Child ◽  
Xy Gonadal Dysgenesis ◽  
Cryptorchid Testis ◽  
The Right

Two children had prepubertal XY gonadal dysgenesis. A 7-year-old girl with clitoral enlargement had a left ovarian tumor that contained a dysgerminoma; the right gonad proved to be a gonadoblastoma. The second child (a 2-year-old girl) showed poor physical development and slight virilization of the genitalia. Her bilateral dysgenetic gonads were removed at exploratory laparotomy. The occurrence of gonadal tumors in XY gonadal dysgenesis is increased. It is probably related to the hypergonadotropinism existing from childhood as well as to genetic predisposition of the cryptorchid testis in the presence of a Y chromosome. Our first patient is one of the youngest who had XY gonadal dysgenesis with gonadoblastoma reported. The indication of prophylactic gonadectomy in XY gonadal dysgenesis is emphasized.

Germ cell tumors associated with XY gonadal dysgenesis

1971 ◽  
Vol 109 (8) ◽  
pp. 1197-1203 ◽  
Author(s):  
Helmut F. Schellhas ◽  
Jose M. Trujillo ◽  
Felix N. Rutledge ◽  
Ann Cork
Keyword(s):  
Germ Cell ◽  
Gonadal Dysgenesis ◽  
Germ Cell Tumors ◽  
Xy Gonadal Dysgenesis
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