46XY/45X

An infant born at 38 weeks' gestation with ambiguous genitalia had a prenatal 45X karyotype but an enlarged phallus on an ultrasound scan at 31 weeks' gestation. The newborn examination demonstrated penoscrotal hypospadias with chordee and two gonads palpable in the scrotum with a right hydrocele. Ultrasound showed a saccular structure containing debris behind the bladder. The postnatal karyotype was revealed to be 45X/46XY, with a pseudodicentric Y chromosome. Cystoscopy/genitography identified a uterus and a right fallopian tube, which were removed along with a dysgenetic right gonad...

Mixed gonadal dysgenesis (MGD) is an intersex genetic abnormality characterized by a streak gonad and a contralateral testis (that is typically cryptorchid) or bilateral streak testes. A uterus and one or both fallopian tubes also may be present. The external genitalia are frequently ambiguous. We studied two phenotypic "females" with MGD. One had a mosaic 45X (40%) and 46XYq (60%) karyotype, a left streak gonad, and a small testis in a right inguinal hernia, whereas the other had a 46XY karyotype, a left streak gonad, and, on the right, a testis with gonadoblastoma...

BACKGROUND: Gender identity is influenced by genetic and hormonal factors and also by the sex of rearing. CASE REPORT: A child was born with ambiguous genitalia. Male sex assignment was made. Hypospadias and left inguinal hernia were present. The hernial sac contained an ovarian tissue. Plasma testosterone, 17-OH progesterone, cortisone levels were normal as were basal FSH and LH levels. There was a vagina but no uterus. The karyotype showed 45X/46XY mosaicism. The testis in the right scrotum was removed and vulvoplasty was performed at the age of 10 months; the patient was than raised as a female...

A chromosome make-up of 45X/46XY can be associated with gonadal dysgenesis, partial dwarfism and Turner-like congenital abnormalities according to Simpson's terminology, as can pure 45X. The Turner syndrome in the form of X/XY is rare. There is a double interest in the case that we report apart from its rarity; first because it has been possible to show lack fluorescence of the Y chromosome which can occur in the pathogenesis of clinical manifestations, when a third clone exists as an addition together with a ring chromosome Y...

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During one year, five second trimester fetuses with cystic hygromata and varying degrees of oedema presented to the authors from hospitals in the West of Scotland. Two fetuses had 45X karyotypes, one each had 47XY + 21 and 47XX + 18 karyotypes, and the fifth had a normal 46XY karyotype. Fetal oedema detectable by ultrasound, affecting particularly the back of the neck, may be a commoner manifestation of several aneuploid syndromes than has hitherto been recognized.

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The advantages of the emergence and development of chorionic villi sampling (CVS) for early prenatal diagnosis are evident, but there are a host of new diagnostic problems caused by the use of extraembryonic tissues. We report a case in which 45X/46XY mosaicism was diagnosed by cultivation of chorionic villi and fetal cells. Direct chromosomal preparations of chorionic villi failed to diagnose the abnormality.

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The authors describe six patients, female phenotype with karyotype 45X/46XY. Two girls suffered from pure gonadal dysgenesis, four from mixed gonadal dysgenesis. The authors emphasize the intact axis hypothalamus-pituitary gonads. In the above diagnoses the authors recommend revision and extirpation of the gonads with regard to possible malignant growth in the dysgenetic gonad.

An 8-year-old girl with some features of Turner syndrome and karyotype 45X/46XY had developed a bilateral gonadoblastoma in her rudimentary ovaries. Her normal Y chromosome showed the characteristic distal fluorescence, as seen in her father's. Another mosaic, this time 45X/46XidicY, and also with some Turner features had rudimentary ovaries, but no gonadoblastoma had developed at age 14. The nature of her idicY, which showed no fluorescent distal Yq and had one of the centromeres inactivated, was confirmed by in situ hybridisation with a Yp-specific probe...

In Turner patients, the presence of a Y chromosome or derivative Y is correlated with the risk of gonadoblastoma induction. "Marker" chromosomes originating from Y, may not show characteristic fluorescence and then be very difficult to identify by conventional cytogenetic techniques, although they still predispose the patients to gonadal tumors. Using polymerase chain reaction of the gene from the sex-determining region of the Y chromosome, we screened 40 Turner patients (thirty seven 45X and three 45X,46XX) for the presence of Y chromosomal DNA...

An 18 year old phenotypic man is described with chromatin-positive Klinefelter's syndrome and undetectable peripheral human follicle stimulating hormone levels. The subject manifested chromosomal mosaicism consisting of three stem cell lines (45X; 46XY; and 47XXY). Testicular biopsy specimen showed germinal cell aplasia: the tubules were lined by Sertoli cells only, whereas the Leydig cells appeared normal. Serum human follicle stimulating hormone levels were undetectable and rose to only 5 mIU/ml after the administration of luteinizing hormone releasing hormone...

The authors describe a case of true hermaphroditism of mainly female phenotype, ambiguous genitalia, and ovotestis. The cytogenetic revealed 45X/46XY mosaicism and an absence of Barr bodies.