Background: Division of Human Genetics (DHG) is a referral center for karyotyping and counseling to the couples as well as to the individuals referred with bad obstetric history and infertility. Materials and Methods: From 1972 to 2003, overall 1666 couples and 131 female partners with bad obstetric history (BOH) such as; spontaneous abortions, live births with congenital malformations and stil...

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...

Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea d...

Ambiguity of the external genitalia has been frequently documented in male patients classified as the Smith-Lemli-Opitz (SLO) syndrome. Four previous case reports suggest that in extreme cases of the SLO syndrome there may be complete lack of development of the male external genitalia even in the presence of a normal male 46,XY karyotype. We present an additional case of a phenotypically female...

BACKGROUND Families with 46,XY Disorders of Sex Development (DSD) have been reported, but they are considered to be exceptionally rare, with the exception of the familial forms of disorders affecting androgen synthesis or action. The families of some patients with anorchia may include individuals with 46,XY gonadal dysgenesis. We therefore analysed a large series of patients with 46,XY DSD or a...

Disorders of sex development (DSD) are defined as congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. In 46, XY DSD, the genotype is XY, but the external genitalia is incompletely virilised, ambiguous, or completely female. The objectives of this prospective study are to evaluate the testicular Sertoli and Leydig cell functions, to establish the gen...

46XY women is a label that gathers together a number of different conditions for which the natural history in to adult life is still only partially known. A common feature is the difficulty that many women encounter when approaching clinicians. In this review we assemble medical, surgical and psychological literature pertaining adult 46XY women together with our experience gained from an adult ...

Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in two 46,XY female patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may...

Turner syndrome (TS) and related sex chromosome abnormalities are associated with a variety of karyotypes and phenotypes affecting 1 in 2500 live births. Mosaicism with Y material (45,X/46,XY) and female phenotype is rare (<1 in 15 000 births)[1]. Their risk of gonadal malignancy is 10-15%, and up to 50% in those with ambiguous phenotype at birth[2]. The SHOX gene is located on both X and Y chr...