However, it can be rarely present in normal women with 46, XX karyotype. [hindawi.com]

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]

XY gonadal dysgenesis, XO-XY mosaicism, not XX gonadal dysgenesis); 25% risk of neoplasia in these gonads Also present in phenotypically normal women, even during pregnancy, although ovary is never normal Y chromosome material appears to participate in [pathologyoutlines.com]

• Cushingoid

  The presence of cushingoid features in addition to signs of virilization may point towards the presence of underlying adrenocortical carcinoma. [hindawi.com]

• Short Stature in Children

  [Etiology and genetic diagnosis of short stature in children]. Chen WW, Liu HX, Liu J, Yang LL, Liu M, Ma HJ. Chen WW, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2019 Apr;21(4):381-386. doi: 10.7499/j.issn.1008-8830.2019.04.015. [pubmed.ncbi.nlm.nih.gov]

• Deepening of Voice

  Case Report A nine-year-old girl presented for evaluation of progressively increased hair growth over androgen-dependent areas, deepening of voice, and abdominal distension. [hindawi.com]

• Normal Stature

  The patient was slender but had essentially normal stature and appearance for her age, with no evidence of dwarfing. [pubs.rsna.org]

• 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]

• Amenorrhea

  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]

  Primary amenorrhea with female phenotype can be approached in a systematic manner with a clinical- and imaging-based algorithm [Figure 4]. [jhrsonline.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]

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]

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

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]

Pure Gonadoblastoma have excellent prognosis Local excision is adequate treatment if no frankly malignant are present Gross description 36% bilateral, tumors usually small and may be microscopic Gross images AFIP images Bilateral tumor, with germinoma [pathologyoutlines.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]

In modern literature, it is sometimes considered to progress to dysgerminoma.[7] Treatment[edit] Standard treatment would include surgical exploration via laparotomy. [en.wikipedia.org]

108:197, Birth Defects Res C Embryo Today 2009;87:114) Associated with ataxia-telangiectasia 80% are phenotypic women, 20% are phenotypic men with undescended testicles and female internal secondary organs 50% have coexisting dysgerminoma Excellent prognosis [pathologyoutlines.com]

Cases with dysgerminoma have excellent prognosis. However, prognosis is unfavorable for other tumor types such as yolk sac tumor [6,8]. [cureus.com]

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]

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]

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]

Epidemiology United States statistics Gonadoblastoma is an uncommon tumor occurring almost exclusively in patients with DSD, who have either molecular evidence of a Y chromosome or a Y chromosome on karyotype analysis. [emedicine.medscape.com]

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]

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]

Pathophysiology Human development and sexual differentiation is a complicated but highly organized process. [emedicine.medscape.com]

Knowledge of gonadoblastoma's potential to elevate serum beta-HCG levels may prevent unnecessary searches for other causes. [ncbi.nlm.nih.gov]