A case of true hermaphroditism with 45X/46XY mosaicism

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

Report of a case of true hermaphroditism with karyotype 45,X/46,XX/46,X,mar/47,XX,mar

The case of a 24-year-old man with hypoplastic external genitalia, lack of the right scrotal testis and gynaecomastia has been described. In the intermitotic cells the cytogenetic investigations revealed the presence of the X body and the absence of the Y body. A 45,X/46,XX/46,X,mar/47,XX,mar karyotype could be established. On laparotomy a rudimentary ovary, uterus and vagina were detected on the right side of the abdominal cavity.     

True hermaphroditism in 45,X/46,XY mosaicism.

This report discusses the clinical findings on two patients with 45,X/46,XY mosaicism, two boys presented with penile hypospadias and cryptorchidism. A dysgenetic ovary and a testis were found in one boy, and a dysgenetic ovary in the other. Both patients can be considered to be true hermaphrodites on the basis of histology and clinical and hormonal observations. 45,X/46,XY mosaics have a wide range of phenotypic appearances and their gonadal morphology can also show great differences. However, the incidence of true hermaphroditism in individuals with 45,X/46,XY mosaicism is low and the reports in the literature rare. It is likely that males with 45,X/46,XY who suffer only mild maldevelopment of the external genitalia will not be recognized. In all patients with penoscrotal hypospadias and cryptorchidism with 45,X/46,XY mosaicism, the possibility of true hermaphroditism should be considered.     

Management of males with 45,X/46,XY gonadal dysgenesis

Males with the 45,X/46,XY karyotype and malformations of the external genitalia carry an increased risk of developing germ cell neoplasia of the gonads. We have studied gonadal tissue from 10 individuals, 0.3-17 years of age, with a male phenotype and either hypospadias and/or cryptorchidism. Four patients, 0.3-15 years of age, had carcinoma in situ, 1 boy had Sertoli-cell-only pattern and the remainder prepubertal histology. Gonadoblastoma or invasive carcinoma was not found. On the basis of our current knowledge we propose a strategy for management and follow-up of these boys in order to detect possible premalignant histological changes early and prevent development of a gonadal tumour.     

Chimerism 46,XX/46,XY in a phenotypic female

Summary A female patient is reported with lymphocyte chromosome chimerism (46,XX/46,XY). Her whole-body chimerism was confirmed in the AB0 blood group system by the presence of two different erythrycyte populations, A₁0 and 00. Normal findings were recorded at physical and gynecological examination, except for mammary hypoplasia and sterility of 7 years duration, the latter complaint being the cause for genetic examination of the patient.     

Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome.

The prognosis for 45,X/46,XX mosaicism diagnosed prenatally has yet to be established. We report our experience with 12 patients in whom prenatal diagnosis of 45,X/46,XX mosaicism was detected by amniocentesis for advanced maternal age or decreased maternal serum alpha-feto protein and compared them with 41 45,X/46,XX patients diagnosed postnatally. The girls in the prenatal group range in age from 3 mo to 10 years. All have had normal linear growth. Four had structural anomalies including: ASD (n = 1); ptosis and esotropia (n = 1); labial fusion (n = 1); and urogenital sinus, dysplastic kidneys, and hydrometrocolpos (n = 1). Gonadotropins were measured in seven; one had elevated luteinizing hormone/FSH at 3 mo of age. One has developmental delay and seizures as well as ophthalmologic abnormalities. None would have warranted karyotyping for clinical suspicion of Turner syndrome. The prevalence of 45,X/46,XX mosaicism is 10-fold higher among amniocenteses than in series of postnatally diagnosed individuals with Turner syndrome, which suggests that most individuals with this karyotype escape detection and that an ascertainment bias exists toward those with clinically evident abnormalities. The phenomenon of a milder phenotype for the prenatal group is similar to that observed for 45,X/46,XY diagnosed prenatally. Prenatal counseling for 45,X/46,XX in the absence of such ultrasound abnormalities as hydrops fetalis should take into account the expectation of a milder phenotype (except, possibly, with respect to developmental delay) than that of patients ascertained postnatally. The same does not hold true for 45,x diagnosed prenatally.     

46,XX/46,XY chimerism in a phenotypically normal man

Summary Some twenty cases of dispermic chimeras with the karyotype 46,XX/46,XY, discovered because of gonadal dysplasias or a true hermaphroditism, have been reported. This is a report of a phenotypically normal man with 46,XX/46,XY chimerism in whom a prepubertal finding of positive X-chromatin was interpreted as Klinefelter syndrome. The diagnosis was revised 11 years later when the family doctor, who doubted the earlier diagnosis because of the patient's normal-sized testes, sent him to an outpatient clinic. The young man was 23 years old, athletic (74kg, 180cm), with normal body proportions, normal sexual hair distribution, normal libido and potency, normal endocrine parameters, and a normal spermiogram. The karyotype revealed an XX/XY mosaic in a proportion of 1:2. An identical set of maternal markers (Q- and C-banding) was present in male and female cells. Differences were found with respect to two paternal markers. Furthermore, blood, serum, and red cell enzyme groups in five systems showed two phenotypes, again with duality of paternal origin. It is concluded that a positive X-chromatin in prepuperty, especially in the absence of supporting clinical features, must be followed by a karyotype study.     

New cytogenetic variant of Orbeli's syndrome (46,XY/45,XY,-D/46,XY,Dq+)

Summary A newborn child with multiple congenital abnormalities, including severe hypoplastic thumb and atresia recti, is described. The cytogenetic analysis revealed a mosaicism 46,XY/45,XY,-D/46,XY,Dq+. The combination of mosaic D-monosomy and two cardinal features of 13q-syndrome give the possibility to consider this case as new cytogenetical variant of the Orbeli's syndrome.

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Zusammenfassung Ein Neugeborenes mit multiplen kongenitalen Abnormitäten einschließ-lich erheblicher Hypoplasie der Daumen und Atresia recti wird beschrieben. Die cytogenetische Analyse ergab ein Mosaik 46,XY/45,XY,-D/46,XY,Dq+ Die Kombination von Mosaik D-Monosomie und den zwei Hauptsymptomen des 13q-Syndroms läßt in diesem Falle eine neue cytogenetische Variante des Orbeli-Syndroms vermuten.

     

Short-arm deletion of an X chromosome (45,XO/46,XX p-)

Summary A 31-year-old female patient with short stature, signs of gonadal dysgenesis, and slight Turner signs is described with a mosaic 45,XO/46,XX del (X) (qterp11) determined with trypsin Giemsa-banding and C-staining. BUdR incorporation indicated the deleted X to be late replicating.     

Clinical and endocrine spectrum in patients with the 45,X/46,XY karyotype

Summary Cytogenetic and endocrine studies were performed in five unrelated 45,X/46,XY individuals in an attempt to correlate them with their clinical expression and gonadal morphology. A lack of a consistent pattern between cytogenetic findings and phenotype was observed.Endocrine studies revealed a wide spectrum of hypothalamic, pituitary, and gonadal hormone production as assessed by the base line levels of LH, FSH, T, and ⁴-A and their responses to appropriate exogenous stimulation (LH-RH and HCG). An adequate correlation between endocrine findings with gonadal morphology and phenotype could be established; thus demonstrating that patients with this particular chromosome complement have a functional integrity of the gonadotropin hypothalamic pituitary activity modulated accordingly with the gonadal function of each particular case.     

45,X/46,XYq dic-Geschlechtschromosomenmosaik

Zusammenfassung Es wird über eine Patientin mit Kleinwuchs, Adipositas und sexuellem Infantilismus berichtet. Die Abklärung ergab ein 45,X/46,XYq dic-Mosaik. Es folgt eine Zusammenfassung der bis jetzt in der Literatur beschriebenen Fälle von Ydic. Das klinische Bild unterscheidet sich nicht wesentlich von jenem des 45,X/46,XY-Mosaiks. Anschließend werden die Zusammenhänge zwischen strukturellen Aberrationen des Y-Chromosoms und Phänotypus diskutiert.

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45,X/46,XYq dic-Sexchromosome mosaic

Summary This is the report on an obese girl with small stature and sexual infantilism. A 45,X/46,XYq dic mosaic was found in blood and fibroblast cultures. A summary is given of the cases so far reported in the literature. The clinical picture does not differ significantly from that of 45,X/46,XY cases. The relationship of phenotype and structural abnormalities of the Y chromosome is discussed.

     

Doppelte aneuploidie: 46,XX/45,XO/47,XX,G+

Zusammenfassung Es wird über ein 7jähriges Mädchen berichtet, bei dem im Mosaik Zellen mit Trisomie 21, Monosomie X und normalem weiblichem Karyotyp gefunden wurden. Klinisch bot die Patientin das abgeschwächte Erscheinungsbild des Mongolismus. Die für das Turner-Syndrom typischen äußeren Veränderungen traten demgegenüber zurück.

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Summary A 7 year old girl is found to have a chromosome mosaic of trisomy 21, monosomy X, and normal female karyotype. The patient showed some clinical symptoms of mongolism, whereas Turner-stigmata were less obvious.