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]

• Hoarseness

  Case Report A 14–years–old girl presented to us with distension of abdomen, excessive hair growth over the body and hoarseness of voice. All these complaints were from the past 3 months. [ncbi.nlm.nih.gov]

• Short Arm

  The breakpoints, defined by fluorescent in situ hybridization (FISH), were located on the very distal short arm on band Yp11.31 and in the middle of the Yq12 long arm heterochromatic region. [ncbi.nlm.nih.gov]

  It has been mapped to a critical interval on the short arm and adjacent centromeric region on the Y chromosome. [scholars.northwestern.edu]

• Osteopenia

  With early recognition, we have three goals, included: Prevention of malignant transformation in streak gonads with bilateral gonadectomy, hormone replacement therapy to avoid osteopenia, and for completion of secondary sexual characteristic. [omicsonline.org]

• Suggestibility

  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]

• 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]

• Neglect

  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]

• 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]

• Imperforate Hymen

  hymen and the transvaginal septum) and primary ovarian insufficiency. [jhrsonline.org]

• Sexual Dysfunction

  […] transmitted infection 性感染［症］ STI vasostomy 精管造瘻術 genital organ 性器 genitalia 性器 reproductive organ 性器 sex organ 性器 sexual organ 性器 genital 性器の sexual function 性機能 sexual dysfunction 性機能障害 hypogenitalism 性器発達不全 genital herpes 性器ヘルペス colliculus seminalis [glossary.urol.or.jp]

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]

[…] 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]

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]

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]

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

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

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]