Gonadal dysgenesis resulting in primary infertility is one of the most common features of Turner syndrome. There have been a number of cases described of pregnancy in 45,X subjects, but whether or not the fertility is associated with a 46,XX cell line in the germ cells is not known. We describe a 45,X/46,X,psu idic(Xq) female with normal fertility, in whom a cryptic 46,XX cell line was found in...

The classic TS phenotype includes short stature, gonadal dysgenesis with primary amenorrhea and hypergonadotropic hypogonadism, facial and body dysmorphisms, skeletal abnormalities, cardiovascular and renal malformations, and predisposition to autoimmune diseases, such as thyroid diseases, diabetes mellitus, celiac disease, and vitiligo.21 Short stature is always present and is caused by severa...

Introduction Complete gonadal dysgenesis with 46 XY karyotype, also known as Swyer-James syndrome, is characterized by complete sex reversal with a female phenotype and unambiguous female external genitalia. Sex-determining region Y (SRY) gene mutations causing loss-of-function of the gene were identified in 10-15% of affected individuals. These individuals also have a high risk of developing t...

Patients with complete XY gonadal dysgenesis (GD) show a high predisposition to germ cell tumors (GCT). Patients with coexistence of GCT and GD have been reported previously. Here we present a 15-year-old girl with mixed GCT and GD who also developed an intra-abdominal synovial sarcoma one year after the treatment. This is the first report, to our knowledge, of synovial sarcoma associated with ...

A 25 year old woman with gonadal dysgenesis but no other somatic features of Turner's syndrome was found to have a 45,X/46,XidicX(p22.3) karyotype. It is postulated that because her stature is within the normal range there has been no loss of genetic material in the fusion of the two Xs. Her mother, who also had a history of menstrual problems, was found to be a 46,XX/47,XXX mosaic.

TWo cases of XO-gonadal dysgenesis in the mare are presented. Case No 1 was a pure 63, XO, while Case No 2 was a mosaic with a preponderance of XX cells. The clinical picture was one of phenotypically normal female mares with small uteri and infantile ovaries. The ovaries lacked germ cells, and consisted of stroma only. This study emphasizes the importance of chromosome analysis in providing in...

The administration of estrogens for gonadal dysgenesis is sometimes associated with the development of endometrial neoplasms. An approach which minimizes the inadvertent side effects while still providing the desired therapeutic effects may be to imitate the hormonal milieu of the normal menstruating woman. Oral administration of estradiol will not necessarily accomplish this, because of the in...

著者 らは,本 誌で,顎 運動を詳細に記録,再 現 する方法 として,Video方 式によるMultipoint XY-trackerの 応用1)について紹介し,次 いで頭部 動揺補正装置2)(digital autocanceller)を 考案 し て,各 個体の顎運動パターンを経年的に追跡 し, その変化の動態について観察 して きた。 その結 果,各 個体の運動のパターンは多種多様であ り, 特に成長発育中の被験者では,顎 運動を構成する 形態的因子の変化によっても,あ るいはまた,咬 合に参加 している乳歯の脱落や,後 継永久歯の咬 合への新たな参加,な どによっても変化 し,矯 正 治療によっても可変的であることが明らかになっ た。 しか し,こ こで対象とした顎運動 とは,切 歯 路(厳 密には下顎中切歯に装着 したtargetの 運 動路)の 記録であ り,し たがって...