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Ovarian Gonadoblastoma


  • Most cases develop in women who have an abnormal karyotype in which at least a portion of the centromeric region of the short arm of chromosome Y is present, a region often referred to as the GBY locus.[ncbi.nlm.nih.gov]
  • Both of these patients presented with testicular masses and germ cell tumors.[ncbi.nlm.nih.gov]
  • This case report presents the natural history of Swyer syndrome. KEYWORDS: dysgerminoma; gonadoblastoma; Swyer syndrome [Indexed for MEDLINE] Free full text[ncbi.nlm.nih.gov]
  • This points at the putative genes for gonadoblastoma to be present around the centromere of the Y chromosome.[ncbi.nlm.nih.gov]
  • Two of them presented 46 XY karyotype and gonadal dysgenesis, whereas the third presented 46 XX karyotype. Besides, 2 of the cases were associated to dysgerminomas.[ncbi.nlm.nih.gov]
Tall Stature
  • These individuals are characterized by 46XY karyotype, primary amenorrhea, tall stature, female external genitalia and normal but hypoestrogenised vagina and cervix.[ncbi.nlm.nih.gov]
Increased Abdominal Girth
  • A case of gonadoblastoma with coexisting dysgerminoma developing in both ovaries of a 20-year-old girl who had increased abdominal girth is presented here. A pelvic mass measuring 20 x 14 cm was detected by pelvic ultrasonography.[ncbi.nlm.nih.gov]
Short Arm
  • FISH analysis documented that the short arm breakpoint was 93 Kb distal to SRY and disrupted the CD99 gene, which was transposed to the distal portion of Yq12.[ncbi.nlm.nih.gov]
  • Her karyotype was 45,X/46,X, mar and it was proved that the marker chromosome was derived from the short arm of the Y chromosome by Southern blot analysis with a Y chromosome specific probe, pDP1007.[ncbi.nlm.nih.gov]
  • DNA analysis using Y specific probes showed the absence of the testicular determining region and the presence of some short arm and centromeric Y chromosomal material.[ncbi.nlm.nih.gov]
  • Molecular analysis located the chromosomal breakpoint in deletion interval 6, indicating that potential genes responsible for the development of gonadoblastoma may be located on the short arm of the Y chromosome or on the long arm, centromeric of deletion[ncbi.nlm.nih.gov]
  • It has been mapped to a critical interval on the short arm and adjacent centromeric region on the Y chromosome.[ncbi.nlm.nih.gov]
  • Another three aniridia/gonablastoma observations from the literature are discussed, two of them without and one in combination with Wilms' tumor.[ncbi.nlm.nih.gov]
  • The expression and molecular properties of TSPY suggest that it is the putative gene for the gonadoblastoma locus on Y chromosome.[ncbi.nlm.nih.gov]
  • Various studies suggest that TSPY accelerates cell proliferation and growth, and promotes tumorigenesis.[ncbi.nlm.nih.gov]
  • This might suggest TSPY as a candidate gene for gonadoblastoma. A 14-year-old phenotypic girl with typical features of gonadal dysgenesis and a normal male karyotype.[ncbi.nlm.nih.gov]
  • It is suggested that gonadoblastoma is capable of producing testosterone and estradiol, and Leydig or lutein-like cells may be the actual source of these steroid hormones.[ncbi.nlm.nih.gov]
  • These findings suggest that the sex cord element of gonadoblastoma can progress to an independent sex cord tumor.[ncbi.nlm.nih.gov]
Widely Spaced Nipples
  • 46,XY gonadal dysgenesis was diagnosed in a 5.5-year-old phenotypically female patient who had physical and somatic stigmata of Turner syndrome such as webbed neck, low hairline, widely spaced nipples, cubitus valgus and coarctation of the aorta.[ncbi.nlm.nih.gov]
  • This very rare case illustrates the natural course of FS over many years due to the neglect by the patient to address his need for follow-up, while adding further data on the spectrum of FS phenotypes associated with IVS9 4 C T mutations.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: This very rare case illustrates the natural course of FS over many years due to the neglect by the patient to address his need for follow-up, while adding further data on the spectrum of FS phenotypes associated with IVS9 4 C T mutations.[research.manchester.ac.uk]
Primary Amenorrhea
  • This patient presented with primary amenorrhea. Clinical characteristics showed a typical stigmata of gonadal dysgenesis: primary amenorrhea, sexual infantilism, a small uterus and bilateral streak gonads.[ncbi.nlm.nih.gov]
  • At the age of 17 years, the patient presented primary amenorrhea and was referred to our department. Physical examination was consistent with Tanner 1 development and external genitalia were female phenotype.[ncbi.nlm.nih.gov]
  • Abstract Dysgenetic streak gonads were removed laparoscopically from a phenotypic female with Swyer syndrome (ie, XY karyotype, sexual infantilism, primary amenorrhea, and müllerian structures).[ncbi.nlm.nih.gov]
  • Abstract The case reports of two sisters admitted for evaluation of primary amenorrhea are presented. Gynecological and endocrinological investigations and chromosomal analysis led to the diagnosis of familial 46,XY gonadal dysgenesis.[ncbi.nlm.nih.gov]
  • We report a case of gonadoblastoma in an 18-year old female who was admitted to our hospital for the investigation of primary amenorrhea. The patient underwent bilateral gonadectomy.[ncbi.nlm.nih.gov]
Vaginal Bleeding
  • Differential diagnosis of perimenarcheal vaginal bleeding may be challenging for the clinician. Rare causes such as pregnancy both intrauterine and extrauterine and hormone producing tumors should be kept in mind.[ncbi.nlm.nih.gov]
  • After 1 year of regular menstrual period, irregular vaginal bleeding occurred. At the age of 18, a big mass was felt on abdomen.[endocrine-abstracts.org]
  • Conclusion Differential diagnosis of perimenarcheal vaginal bleeding may be challenging for the clinician. Rare causes such as pregnancy both intrauterine and extrauterine and hormone producing tumors should be kept in mind.[link.springer.com]
  • Postpubertal patients have vaginal bleeding in approximately one third of the cases and, rarely, androgenic manifestations.[glowm.com]
Secondary Amenorrhea
  • A 28-year-old woman with well-developed female secondary sexual characteristics, secondary amenorrhea, short stature and a few somatic anomalies of streak gonad syndrome who had bilateral 'burnt out' gonadoblastoma associated with 45,X karyotype is reported[ncbi.nlm.nih.gov]
Testicular Mass
  • Both of these patients presented with testicular masses and germ cell tumors.[ncbi.nlm.nih.gov]


  • The vast majority are found associated with disorders of sexual development (previously known as "intersex disorders") often found during a workup for an newborn or infant with ambiguous genitalia may be hormonally active and present with precocious puberty[radiopaedia.org]
  • The background knowledge of the patient revealed that she had no uterus (based on the previous workup by a local clinician).[jhrsonline.org]
  • Further, no standard approach or guidelines have been established for the diagnostic workup and management of these patients.[ijpeonline.biomedcentral.com]


  • Five years after treatment by surgery and irradiation the patients are well and free of recurrence.[ncbi.nlm.nih.gov]
  • Five years and eight months after treatment, the patient is well and free of recurrence.[ncbi.nlm.nih.gov]
  • Two years and two months after treatment by surgery the patient is well and free of recurrence.[ncbi.nlm.nih.gov]
  • The treatment and the follow up are detailed. CONCLUSION: The presence of Y chromosome in the karyotype of a patient presenting a gonadal dysgenesis must lead to prophylactic bilateral gonadectomy in order to avoid a malignant transformation.[ncbi.nlm.nih.gov]
  • We describe the clinical case of a 12-year-old girl with TS treated with GH who showed a good response to treatment. She developed an ovary with histological polycystic pattern and a contralateral gonadoblastoma in the streak gonad.[ncbi.nlm.nih.gov]


  • Furthermore, the prognosis for gonadoblastoma accompanied by germ cell tumors other than dysgerminoma was very poor in the past, but the patient remains well 25 months after the first operation.[ncbi.nlm.nih.gov]
  • This case is presented because of its rarity and clinical importance of recognizing such cases because of excellent prognosis.[ncbi.nlm.nih.gov]
  • Laparoscopic gonadectomy was performed, with a good prognosis. Of remark is the opportunity to carry out gonadectomy in prepubertal age in girls with TS and Y chromosome material.[ncbi.nlm.nih.gov]
  • Identifying dysgerminoma overgrowth is crucial since it is associated with adverse prognosis and requires additional therapy.[ncbi.nlm.nih.gov]
  • The patients' prognosis can vary, depending on their karyotype.[ncbi.nlm.nih.gov]


  • The contribution of specific genes on the Y chromosome in the etiology of prostate cancer has been undefined.[ncbi.nlm.nih.gov]
  • Because gonadoblastoma develops only in patients who have Y-chromosome material and dysgenetic gonads, it has been hypothesized that positive expression of a gene (or genes) on the Y chromosome (GBY) is involved in the etiology of the tumor.[ncbi.nlm.nih.gov]
  • Rosenberg SA (eds): AIDS: Etiology, Diagnosis. Treatment, and Prevention. ‏ الصفحة 190 - Nonspecific vaginitis. Diagnostic criteria and microbial and epidemiologic associations. Am J Med. ‏ الصفحة 193 - Henson D, Tarone R.[books.google.com]
  • Bundesministerium für Bildung und Forschung ) , we now have established a clinical diagnostic center between the unit of “ Paediatric Endocrinology and Diabetes ” of the children’s clinic and our molecular diagnostic laboratory for analysis of the molecular etiology[klinikum.uni-heidelberg.de]
  • NR0B1 ) and WNT4 genes, as well as haploinsufficiency of the SOX9, SF1, WT1 and DMRT1 - DMRT2 genes, have been considered responsible for the development of 46,XY sex reversal ( 5, 6 ) and therefore the SRY gene does not play a significant role in the etiology[spandidos-publications.com]


  • Includes all-new chapters on cytology, immunohistochemistry, flow cytometry, molecular biology, and epidemiology and biostatistics.[books.google.ro]
  • Diagnostic criteria and microbial and epidemiologic associations. Am J Med. ‏ الصفحة 193 - Henson D, Tarone R. An epidemiologic study of cancer of the cervix, vagina, and vulva based on the Third National Cancer Survey in the United States.[books.google.com]
  • However, no cases with gonadoblastoma or other ovarian malignancies have been found in epidemiological studies of cancer, morbidity, or mortality in Turner syndrome.[ncbi.nlm.nih.gov]
  • […] specifically in the germ cells of murine gonads. [8] In vitro and in vivo studies have demonstrated that ectopic expression of TSPY favors cell proliferation and growth and predisposes cells to further genetic “hits” resulting in carcinogenesis. [7] Epidemiology[emedicine.medscape.com]
Sex distribution
Age distribution


  • It brings together the pathophysiology of disease with detailed clinical guidance on diagnosis and management for the full range of childhood cancers, including aspects important in optimal supportive care.[books.google.de]
  • Turner syndrome (45,XO) Imaging: Imaging studies useful to diagnose intersexuality and identify patients at risk of developing gonadoblastoma Flat abdominal radiograph may reveal gonadal calcification, a classic pathologic finding in gonadoblastoma Pathophysiology[pathologyoutlines.com]
  • Pathophysiology Human development and sexual differentiation is a complicated but highly organized process.[emedicine.medscape.com]


  • We propose that laparoscopy is a safe, cost-effective, and simple procedure to perform on individuals requiring prophylactic gonadectomy for the prevention of neoplasia.[ncbi.nlm.nih.gov]
  • Knowledge of gonadoblastoma's potential to elevate serum beta-HCG levels may prevent unnecessary searches for other causes.[ncbi.nlm.nih.gov]
  • Early prophylactic resection of dysgenetic gonads is indicated in children with Frasier syndrome to prevent the development of germ cell malignancy.[ncbi.nlm.nih.gov]
  • She underwent prophylactic bilateral gonadectomy to prevent future malignant changes of streak gonads. Histopathologic examination revealed microscopic foci of gonadoblastoma on the left side of ovary.[ncbi.nlm.nih.gov]
  • In conclusion, a systematic search for hidden Y-chromosome mosaicism, especially SRY, in Turner syndrome patients is justified by the possibility of preventing gonadal lesions.[ncbi.nlm.nih.gov]

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