Combination of Hypospadias and Maldescended Testis as Cardinal Symptoms in Gonosomal Chromosome Aberrations*

Raff, Ruth; Schubert, Regine; Schwanitz, Gesa; Ven, Karin van der; Brühl, P

doi:10.1055/s-2008-1072372

Cited by 7 publications

(4 citation statements)

References 18 publications

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“…, 1999), 45,X/46,XYq‐ (Mailhes et al. , 1979), 45,X/46,X,idic(Yp) (Raff et al. , 2000), 45,X/69,XXY (Quigley et al.…”

Section: Genes Coding For Non‐endocrine‐related Morphogenetic Factorsmentioning

confidence: 99%

“…They include Klinefelter's syndrome, 47,XXY (Moriyama et al, 1988), 48,XXYY (Neugebauer et al, 1991) and various mosaicisms, e.g. 45,X ⁄ 46,XY, which is a relatively common chromosomal abnormality known as mixed gonadal dysgenesis (Telvi et al, 1999), 45,X ⁄ 46,XYq- (Mailhes et al, 1979), 45,X ⁄ 46,X,idic(Yp) (Raff et al, 2000), 45,X ⁄ 69,XXY (Quigley et al, 2005). Abnormal genital development in these patients may be related to a dosage effect of the SRY gene (Sinisi et al, 2003).…”

Section: Genes or Chromosomal Aberrations Leading To Testicular Dysgementioning

confidence: 99%

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Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation?

2009

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Hypospadias is one of the most frequent genital malformations in the male newborn and results from an abnormal penile and urethral development. This process requires a correct genetic programme, time- and space-adapted cellular differentiation, complex tissue interactions, and hormonal mediation through enzymatic activities and hormonal transduction signals. Any disturbance in these regulations may induce a defect in the virilization of the external genitalia and hypospadias. This malformation thus appears to be at the crossroads of various mechanisms implicating genetic and environmental factors. The genes of penile development (HOX, FGF, Shh) and testicular determination (WT1, SRY) and those regulating the synthesis [luteinizing hormone (LH) receptor] and action of androgen (5alpha reductase, androgen receptor) can cause hypospadias if altered. Several chromosomal abnormalities and malformative syndromes include hypospadias, from anterior to penoscrotal forms. More recently, CXorf6 and ATF3 have been reported to be involved. Besides these genomic and hormonal factors, multiple substances found in the environment can also potentially interfere with male genital development because of their similarity to hormones. The proportion of hypospadias cases for which an aetiology is detected varies with the authors but it nevertheless remains low, especially for less severe cases. An interaction between genetic background and environment is likely.

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“…, 1999), 45,X/46,XYq‐ (Mailhes et al. , 1979), 45,X/46,X,idic(Yp) (Raff et al. , 2000), 45,X/69,XXY (Quigley et al.…”

Section: Genes Coding For Non‐endocrine‐related Morphogenetic Factorsmentioning

confidence: 99%

Section: Genes or Chromosomal Aberrations Leading To Testicular Dysgementioning

confidence: 99%

Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation?

2009

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“…45X0/46XY and androgen insensitivity) (Savage & Lowe, 1990; Quigley et al. , 1995; Raff et al. , 2000), but this only accounts for a small fraction of the TDS cases.…”

Section: Introductionmentioning

confidence: 99%

Risk factors for hypospadias in Norwegian boys – association with testicular dysgenesis syndrome?

et al. 2004

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It has been proposed that hypospadias, cryptorchidism and testicular cancer, as well as decreasing sperm quality are symptoms of an underlying entity called testicular dysgenesis syndrome (TDS). We wanted to study the risk factors for hypospadias and compare them with those of the other conditions belonging to TDS. A large case-control study was undertaken on data on all live-born boys registered in the Medical Birth Registry of Norway during the period 1967-1998 (n = 961 396; hypospadias cases = 2382). Logistic regression analysis was used to study the association between potential risk factors and hypospadias, estimated by odds ratio (OR). The risk factors for hypospadias were divided into four categories: (i) maternal characteristics, e.g. low parity [p(trend) < 0.001], hypertension (OR = 1.49) and bleeding (OR = 1.39) during index pregnancy, and (pre)eclampsia (OR = 1.84); (ii) complications during delivery, e.g. retained placenta (OR = 1.67) or Caesarean section (OR = 1.36); (iii) characteristics of the newborn, e.g. low birth weight [p(trend) < 0.001], small for gestational age (OR = 2.16), and presence of congenital malformations other than hypospadias (OR = 2.72), e.g. inguinal hernia (OR = 5.65); (iv) prevalence among relatives of hypospadias cases, e.g. brother with hypospadias (OR = 20.81). The novel finding of retained placenta as a risk factor indicates that early malfunction of placenta could be a causative factor for hypospadias. When comparing with previously published risk factors for hypospadias, cryptorchidism and testicular cancer, we found that the following risk factors were common to all three conditions: low parity, low birth weight, low gestational age, inguinal hernia, bleeding during pregnancy and Caesarean section. In conclusion, our results support the notion that the conditions of TDS share risk factors.

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“…45,X cell lines predominated in the amniotic fluid karyotypes of the two females but presented lower proportions in the cord blood [34, 36]. A discrepancy between mosaicism from different tissues has generally been recognized in other cases [9, 11, 18, 43–45], which might have been caused by the different origins of the tissues and could be affected by the biases of subcultures and counting. Therefore, we could not determine the accurate percentage of a 45,X cell line to indicate the phenotypical sex of the foetuses.…”

Section: Discussionmentioning

confidence: 99%

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

Yang

Wang

2019

Mol Cytogenet

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BackgroundIsodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phenotypes vary widely. Therefore, we present six patients prenatally diagnosed with isodicentric Y chromosomes and review the literature concerning the genotype-phenotype correlations.MethodThe clinical materials of six patients were obtained. Cytogenetic and molecular approaches were carried out for these six patients.ResultsIsodicentric Y chromosomes were found in all sixpatients. Among them, four patients presented with a mosaic 45,X karyotype, one patient had a 46,XY cell line, and one patient was nonmosaic. Five of these six isodicentric Y chromosomes had a breakpoint in Yq11.2, and the other had a breakpoint in Yp11.3. The molecular analysis demonstrated different duplications and deletions of the Y chromosome. Finally, three patients chose to terminate the pregnancy, two patients gave birth to normal-appearing males, and one patient was lost to follow-up.ConclusionThe incorporation of multiple cytogenetic and molecular techniques would offer a more comprehensive understanding of this structural chromosomal abnormality for genetic counselling.

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Combination of Hypospadias and Maldescended Testis as Cardinal Symptoms in Gonosomal Chromosome Aberrations*

Cited by 7 publications

References 18 publications

Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation?

Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation?

Risk factors for hypospadias in Norwegian boys – association with testicular dysgenesis syndrome?

Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

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