Background: Ovotesticular disorder of sexual development (DSD is a rare form of DSD in which both testicular and ovarian tissues are present in the same individual either in a single gonad (ovotestis) or in opposite gonads with a testis and an ovary on [abstracts.eurospe.org]

Case 2 A 19-year-old patient with female phenotype presented with primary amenorrhea. Ultrasono-graphy indicated uterine agenesis, and showed a 12 mm simple cyst on the right gonad. [ams.ac.ir]

The present observations suggest that TSPY may either be involved in the oncogenesis of or be a useful marker for both types of germ cell tumors. [scholars.northwestern.edu]

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]

In the present case, the patient received bilateral gonadectomy. [spandidos-publications.com]

• Short Stature

  Physical examination revealed short stature (−2.1 SDS), Tanner stage I breast development, normal female external genitalia phenotype. [abstracts.eurospe.org]

  Abstract A 13-year-old phenotypically female patient presented with short stature (height SDS -2.6), but without any Turner stigmata or other dysmorphic features. [ncbi.nlm.nih.gov]

• Swelling

  […] cell 生殖細胞 germinal cell 生殖細胞 germinal cell tumor 生殖細胞性腫瘍 maturation arrest 生殖細胞成熟停止 germinal aplasia 生殖細胞無形成 germinal epithelium 生殖上皮 genital ridge 生殖堤 reproductive capability 生殖能［力］ genital fold 生殖ひだ assisted reproductive technology 生殖補助医療 ART genital swellings [glossary.urol.or.jp]

  […] as frequent in postmenopausal as in premenopausal women with these neoplasms, and is of low grade and amenable to curative therapy in the majority of cases. 5 Granulosa cell tumors may be associated with additional estrogenic manifestations, such as swelling [glowm.com]

• Cough

  ）細胞 sexual 性［的］ spinal compression 脊髄圧迫 myelodysplasia 脊髄異形性 myelitis 脊髄炎 medullary cone 脊髄円錐[部] spinothalamic tract 脊髄視床路 spinal lipoma 脊髄脂肪腫 funiculitis 脊髄神経索炎 myelomeningocele 脊髄髄膜瘤 spinal cord injury 脊髄損傷 myeloschisis 脊髄披裂 spinal anesthesia 脊髄麻酔 cough [glossary.urol.or.jp]

• Irritability

  […] deficiency 性腺刺激ホルモン欠乏症 gonadotropin releasing hormone 性腺刺激ホルモン放出ホルモン GnRH sex chromatin 性染色質 sex chromosome 性染色体 gonadal steroid 性腺ステロイド gonadectomy 性腺摘出 gonadal sex 性腺の性 gonadal dysgenesis 性腺発生異常 testicle 精巣 testis 精巣 testicular atrophy 精巣萎縮 orchitis 精巣炎 irritable [glossary.urol.or.jp]

• Amenorrhea

  Case 2 was a 15-year-old female presented with lack of pubertal development and primary amenorrhea. Physical examination revealed short stature (−2.1 SDS), Tanner stage I breast development, normal female external genitalia phenotype. [abstracts.eurospe.org]

  Case 2 A 19-year-old patient with female phenotype presented with primary amenorrhea. Ultrasono-graphy indicated uterine agenesis, and showed a 12 mm simple cyst on the right gonad. [ams.ac.ir]

  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]

• Cryptorchidism

  WT1 gene mutations have been described in 46,XY patients with ambiguous genitalia or complete gonadal dysgenesis with or without Wilms' tumor, nephropathy, gonadoblastoma, and other defects, e.g., cryptorchidism or hypospadias. p.R462W is a hot spot mutation [ncbi.nlm.nih.gov]

  The following factors may raise a child’s risk of developing an extracranial, gonadal germ cell tumor: Cryptorchidism. If a boy has an undescended testicle, he has a higher risk of developing a testicular seminoma tumor. [cancer.net]

  Macroscopy Usually small Often impossible to determine nature of gonad bearing tumor sometimes identified as: a streak gonad (many become apparent only on microscopic examination) cryptorchid testis never a normal ovary ≈36% bilateral The gross appearance [humpath.com]

  The gonadal phenotype ranges from complete gonadal dysgenesis, or ovotestes, to cryptorchidism or hypospadias [ 7 ]. The patient in our study presented complete 46,XY gonadal dysgenesis caused by partial 9p monosomy. [omicsonline.org]

  He has two sons, who both presented with bilateral cryptorchid testis, which is one of the major risk factors for testicular GCC [46]. [journals.plos.org]

• 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 Disease

  […] infarction 精巣梗塞 orchidopexy 精巣固定術 testicular disease 精巣疾患 testicular neoplasm 精巣腫瘍 testicular tumor 精巣腫瘍 testis neoplasm 精巣腫瘍 tunica vaginalis testis 精巣鞘膜 pubertas praecox 性早熟 testicular inversion 精巣上下逆転 epididymis 精巣上体 epididymitis 精巣上体炎 duct of epididymis [glossary.urol.or.jp]

May occur in phenotypic males or females. associated with disorders of sexual development (previously known as "intersex disorders") often found during a workup for a newborn or infant with ambiguous genitalia may be hormonally active and present with [radiopaedia.org]

However, any individual with sex organ maldevelopment disorder is suspected of having gonadoblastoma and should be considered for a complete workup to diagnose the underlying disorder and should also be monitored by imaging studies for the presence or [wikidoc.org]

[…] histopathologic features with data from ancillary techniques such as immunohistochemistry and cytogenetics and discussions of the relevant clinical manifestations of gynecological diseases to provide you with the necessary tools to make a comprehensive diagnostic workup [books.google.ro]

The background knowledge of the patient revealed that she had no uterus (based on the previous workup by a local clinician). [jhrsonline.org]

Workup Laboratory Studies Chromosome analysis Chromosome analysis is the most important laboratory study in the diagnosis of gonadoblastoma. The karyotype at birth is used as a screening test in neonates with abnormal genitalia. [emedicine.medscape.com]

Treatment Options Surgical removal of the tumor is the mainstay of the treatment. Surgical removal of the affected gonad must be considered in case of coexisting sex development disorders. [wikidoc.org]

Five years after treatment by surgery and irradiation the patients are well and free of recurrence. [ncbi.nlm.nih.gov]

Patients with a pure gonado-blastoma have an excellent prognosis provided both gonads are excised. [ams.ac.ir]

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]

The contribution of specific genes on the Y chromosome in the etiology of prostate cancer has been undefined. [ncbi.nlm.nih.gov]

It is expressed in the germ cells of DSD-XY patients with distinct etiologies but also in foetal and pre-meiotic male spermatogonia. However, the GBY region extends to proximal Yq11 and therefore includes probably more than one candidate gene. [pubmed.ncbi.nlm.nih.gov]

ARTICLES Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads Development 1987 101: 151-155; Summary The role of the human Y chromosome in the etiology of gonadoblastoma, a gonadal neoplasm, is considered and a two-part model is [dev.biologists.org]

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]

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]

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]