Ein Fall von testicul�rer Feminisierung mit dem Karyotyp 47,XXY

Bartsch-Sandhoff, M.; Stephan, Lea; Röhrborn, G.; Pawlowitzki, I. H.; Scholz, W.

doi:10.1007/bf00270400

Cited by 13 publications

(4 citation statements)

References 8 publications

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“…Sex chromosome mosaics are rarely detected (Forsberg et al 1965;Uozumi et al 1967;Gordon et al 1969). In three inOffprint requests to: U. Mailer, Division of Genetics, The Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA stances, a 47,XXY karyotype without evidence of mosaicism was reported (German and Vesell 1966;Bartsch-Sandhoff et al 1976;Gerli et al 1979). Here, we describe another individual with a 47,XXY karyotype and testicular feminization.…”

Section: Introductionmentioning

confidence: 82%

Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization

et al. 1990

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An 11-year-old patient with incomplete testicular feminization and a 47,XXY karyotype is described. The patient had female external genitalia, clitoromegaly, and some features of Klinefelter's syndrome, including speech delay and delayed intellectual development. DNA analysis using X chromosomal DNA sequences suggest that the supernumerary X chromosome in the patient resulted from maternal nondisjunction during meiosis II. The M II error thereby provides the basis for homozygosity of a mutation in the androgen receptor locus.

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Section: Introductionmentioning

confidence: 82%

Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization

et al. 1990

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“…The prevalence of Klinefelter syndrome is approximately 1 in 1,000 males [Levitan, 1988]. Endocrinologic evaluation in adult patients with 47,XXY typically demonstrates hypergonadotropic hypogonadism, and atrophic changes in the testes.A combination of AIS and 47,XXY was reported in 5 cases [Bartsch-Sandhoff et al, 1976;Gerli et al, 1979; German and Vessell 1966;Müller et al, 1990;Scully et al, 1990]. The rarity of this concurrence is explained by the random nature of X-inactivation in XXY patients [Disteche, 1995;Lyon, 1961], because overall, a defect resulting from a mutant AR allele on one X chromosome is masked by the effect of the normal allele on the other X chromosome.…”

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confidence: 81%

Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome

et al. 1999

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We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D and one in exon E. Microsatellite marker analysis showed that the patient is homozygous for all five Xq loci examined. The results suggest that the long-arms of the two X chromosomes are identical, i.e., uniparental isodisomy at least for Xq, and carry the same mutations in the androgen receptor gene. This explains how complete androgen insensitivity syndrome occurred in this 47,XXY individual.

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“…CAIS represents 15%-20% of all disorders of sexual development. The karyotype is usually 46,XY, although mosaicism [121,122] and 47,XXY patients [123][124][125][126][127] have also been reported.…”

Section: Complete Androgen Insensitivity Syndromementioning

confidence: 99%

Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization

et al. 2015

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Normal male development requires three conditions: (1) adequate differentiation of the fetal testis; (2) synthesis and secretion of testicular hormones; and (3) effective action of these hormones on target organs. This requires the combined action of the inhibitory anti-müllerian hormone (AMH, secreted by Sertoli cells) to block the development of the uterus and fallopian tubes from the müllerian duct, together with the trophic stimulus of testosterone (a Leydig cell product), which leads to virilization of the wolffian ducts. Additionally, the development of external genitalia depends on the conversion of testosterone to dihydrotestosterone by the enzyme 5-α-reductase. Failure of any of these mechanisms leads to deficient virilization or the so-called "male pseudohermaphroditism" syndromes.

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Ein Fall von testicul�rer Feminisierung mit dem Karyotyp 47,XXY

Cited by 13 publications

References 8 publications

Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization

Maternal meiosis II nondisjunction in a case of 47,XXY testicular feminization

Complete androgen insensitivity in a 47,XXY patient with uniparental disomy for the X chromosome

Perspectives in Pediatric Pathology, Chapter 6. Male Undermasculinization

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