Four cases of bladder exstrophy in two families.

Messelink, E.J.; Aronson, D. C.; Knuist, M; Heij, H.A.; Vos, Annemieke

doi:10.1136/jmg.31.6.490

Cited by 54 publications

(33 citation statements)

References 11 publications

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“…This hypothesis was based on observations of rare familial cases, high but incomplete concordance in monozygotic twins, and a single report of increased recurrence risk for BEEC in the offspring of an affected parent (6)(7)(8).…”

Section: Discussionmentioning

confidence: 99%

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding

Nishi

Martins

Costa

et al. 2013

Arq Bras Endocrinol Metab

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SummaryChromosome aberrations or genetic syndromes associated with cloacal-bladder exstrophy complex have rarely been reported. The aim of this report is to describe a 14 year-old female Brazilian patient with a complex urogenital malformation, short stature, lack of secondary sexual characteristics and Y chromosome aberration. A girl with cloacal bladder exstrophy complex was referred for evaluation of short stature and absence of secondary sexual characteristics. Pre-pubertal levels of gonadotropins and sex steroids were observed at the beginning of monitoring, but follow-up showed a progressive increase in testosterone levels. The patient underwent gonadectomy and testicular tissue was identified without dysgenetic characteristics. She had a 46,X,inv(Y)(p11.1q11.2) karyotype, normal SRY sequence, and no Y deletions. The pericentric inversion of Y chromosome apparently did not contribute to the development of the complex urogenital malformation in this patient. Currently, no teratogenic agent, environmental factor, or defective genes have been recognized as etiologic factors for this type of urogenital malformation. Arq Bras Endocrinol Metab. 2013;57(2):148-52 SumárioAberrações cromossômicas ou síndromes genéticas associadas ao complexo extrofia de bexiga e de cloaca e epispadia são raramente relatadas. O objetivo é descrever uma paciente brasileira com 14 anos que apresenta uma malformação urogenital complexa, baixa estatura, ausência de características sexuais secundárias e alteração do cromossomo Y. Uma menina com extrofia de bexiga e de cloaca e epispadia foi encaminhada para avaliação de baixa estatura e ausência de desenvolvimento de características sexuais secundárias. Níveis pré-puberais de gonadotrofinas e esteroides sexuais foram observados no início da avaliação, mas durante o seguimento notou-se um aumento progressivo dos níveis de testosterona. Ela foi submetida à gonadectomia e identificou-se a presença de testículos sem características disgenéticas. O cariótipo era 46,X,inv(Y)(p11.1q11.2), com sequência normal do SRY e ausência de deleções do Y. A inversão pericêntrica do cromossomo Y, aparentemente, não contribuiu para o desenvolvimento da malformação urogenital complexa nessa paciente. Atualmente, nenhum agente teratogênico, fator ambiental ou mutações gênicas foram reconhecidos como fatores etiológicos para essa malformação urogenital. Arq Bras Endocrinol Metab. 2013;57(2):148-52

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Section: Discussionmentioning

confidence: 99%

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding

Nishi

Martins

Costa

et al. 2013

Arq Bras Endocrinol Metab

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“…A limited number of cases of prenatally diagnosed bladder exstrophy have been reported in the English literature during the last 15 years (Table 1) [5][6][7][8][9][10][11][12][13] . Usual findings include nonvisualization of the fetal bladder, low insertion of the umbilicus, pubic bone diastasis, epispadias and small genitals with normal kidneys and normal amniotic fluid volume.…”

Section: Discussionmentioning

confidence: 99%

“…Only a few cases of prenatal diagnosis have been reported in the English literature during the last 15 years [5][6][7][8][9][10][11][12][13][14] . The prenatal diagnosis is based on a non-visible fetal bladder, normal fetal kidneys, normal amniotic fluid volume, low insertion of the umbilical cord, a bulging mass protruding from the lower abdominal wall, a small penis, epispadias and splayed iliac bones [1][2][3][4][5][6][7][8][9][10][11][12][13][14][15] . Prenatal counseling has gained increasing relevance for the quality of life and long-term prognosis in adults affected by bladder exstrophy, particularly with regard to urinary incontinence, and sexual and reproductive problems in affected individuals 5 .…”

Section: Introductionmentioning

confidence: 99%

The dilemma of prenatal diagnosis of bladder exstrophy: a case report and a review of the literature

Goldstein

Shalev

Nisman³

2001

Ultrasound in Obstet & Gyne

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“…[34] auf etwa 1:100, wo hin ge gen Mes se link et al [59] einen Wert von 2,3 er mit tel ten. Sha pi ro et al [83] er rech neten an hand ei ner Um fra ge in Nord ame rika ein Ri si ko von 0,3.…”

Section: Wie Der Ho Lungs Ri Si Ko Bei Beekunclassified

“…1994 pos tu lier ten Mes se link et al [59], dass dem BEEK, wie auch an deren iso lier ten Mit tel li ni en de fek ten (Lip penKie fer-Gau men-Spal ten, Spi na bi fi da etc. ), ein mul ti fak to ri el ler Erb gang zu grun de liegt; dies im pli ziert eine ge ne ti sche (Prä-) Dis po si ti on und das Ein wir ken von Umwelt fak to ren.…”

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Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)

Ludwig

Utsch

Reutter

2005

Urologe

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The bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia. The incidence varies with regard to ethnical background, sex, and phenotypic expression, and an incidence of 1:20,000 to 1:80,000 has been observed in the middle European population. No gene defect has been attributed to BEEC thus far and chromosomal aberrations or genetic syndromes associated with BEEC have only rarely been reported. According to epidemiological data, a complex genetic as well as a multifactorial mode of inheritance could underlie BEEC. However, no single teratogenic agent or environmental factor has been identified, which could play a dominant role in the expression of the BEEC.A risk of recurrence of 0.5-3% has been described in families with one affected subject. These values correspond to an increased recurrence risk estimated to be as high as 200- to 800-fold when compared to the common population. Due to the paucity of affected sib pairs and suitable multiplex families, conventional linkage analysis to identify candidate genes causally related with BEEC appears to be unfeasible. Large association studies and consecutive linkage disequilibrium mapping should therefore lead to the identification of candidate genes. Also new methods including matrix-based comparative genomic hybridization (CGH) are promising and have successfully been used in the past (e.g., CHARGE association). Moreover, the low incidence of the BEEC requires close cooperation between clinicians in the operative and nonoperative specialties as well as geneticists for successful gene search.

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Four cases of bladder exstrophy in two families.

Cited by 54 publications

References 11 publications

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding

Y chromosome aberration in a patient with cloacal-bladder exstrophy-epispadias complex: an unusual finding

The dilemma of prenatal diagnosis of bladder exstrophy: a case report and a review of the literature

Genetic and molecular biological aspects of the bladder exstrophy-epispadias complex (BEEC)

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