Further Delineation of the McKusick-Kaufman Hydrometrocolpos-Polydactyly Syndrome

Chitayat, David; Hahm, Sue; Marion, Robert W.; Goldman, Dina; Hutcheon, R. Gordon; Weiß, Robert; Cho, Sangho; Nitowsky, Harold M.

doi:10.1001/archpedi.1987.04460100111042

Cited by 20 publications

(20 citation statements)

References 9 publications

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“…In particular, association with postaxial polydactyly is well known as hydrometrocolpos-polydactyly or Kaufman syndrome [2], In this case, further investigation revealed precocious puberty due to hypothalamic hamartoma, with low-set ears, con genital nasolacrimal duct obstruction and mild aplasia of the left ulna, right fibula, and mandible. Precocious pu berty required administration of a LH-RH analogue and vaginal discharge through the percutaneous catheter de creased with the improvement of precocious puberty.…”

Section: Commentmentioning

confidence: 70%

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Hydrometrocolpos with Ectopic Vaginal Opening to the Bladder

Takeda

Konda²,

Sakai³

et al. 1997

Urol Int

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A case of hydrometrocolpos with vaginal opening to the bladder is presented. A newborn female presented abdominal distention and postaxial polydactyly at birth. Clinical investigation revealed hydrometrocolpos, precocious puberty, urogenital sinus and other multiple malformations. The vagina was open to the bladder with a small orifice. Vaginal pull-through surgery and closure of the communication was performed. Over a hundred cases of hydrometrocolpos have been reported previously. However, we could not find a case of hydrometrocolpos with vaginal opening to the bladder among them.

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Section: Commentmentioning

confidence: 70%

“…Over 100 cases of hydromctrocolpos have been re ported since 1956 [2,3]. Nguyen classified hvdrometrocolpos into 5 types according to the anatomy of the vagi nal obstruction and existence of urogenital or anorectal malformation [4,5].…”

Section: Commentmentioning

confidence: 99%

Hydrometrocolpos with Ectopic Vaginal Opening to the Bladder

Takeda

Konda²,

Sakai³

et al. 1997

Urol Int

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“…In the McKusick±Kaufmann syndrome, hydrometrocolpos is always associated with postaxial polydactyly and less frequently with congenital heart disease, urinary and gastrointestinal anomalies [6,7,20]. A correct diagnosis is often dif®cult, and the neonatal management and surgical correction are not fully established.…”

Section: Introductionmentioning

confidence: 99%

The neonatal management and surgical correction of urinary hydrometrocolpos caused by a persistent urogenital sinus

et al. 1999

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Objective To de®ne the neonatal management and ultimate surgical correction via the anterior sagittal transanorectal approach (ASTRA) in cases of neonatal urinary hydrometrocolpos associated with a persistent urogenital sinus (UGS). Patients and methods We report three patients with UGS (with no ambiguous genitalia) and urinary hydrometrocolpos in whom prenatal ultrasonography showed cystic dilatation of the pelvis. Two patients were temporarily treated with intermittent vaginal catheterization and antibiotic prophylaxis, and in one a cystostomy was necessary to temporarily drain the urine. At the age of 6±8 months the patients underwent reconstructive surgery of the UGS via the ASTRA, under a previous protective colostomy.Results The mean (range) age of the patients at the last follow-up was 18.7 (8±32) months. A good cosmetic result was obtained in all patients. The vagina was dilated brie¯y with no anaesthesia in each patient. Patients had normal faecal control after the colostomy was closed and none had urinary incontinence. Conclusions When possible, intermittent vaginal catheterization permits suf®cient temporary drainage of the urinary hydrometrocolpos associated with a persistent UGS. Subsequent ASTRA allows good exposure of the UGS, assuring the preservation of the anorectal innervation and of the sphincteric mechanism.

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“…However, there are several genetic syndromes that have been identified with vaginal atresia as a commonly associated malformation (Table 1). McKusick-Kaufman (MKKS) and Bardet-Biedl (BBS) are two autosomal recessive syndromes with significant overlap which have been associated with vaginal agenesis [1,[55][56][57][58]. In females, MKKS is typically characterized by congenital heart malformations, postaxial polydactyl, and hydrometrocolpos.…”

Section: Vaginal Atresiamentioning

confidence: 99%

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

Owen¹,

JH²

2013

J Genet Syndr Gene Ther

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Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. As endometrial function is critical for successful implantation and pregnancy maintenance, these recent data suggest a target for gene therapy. Future research will be needed to determine if gene therapy may improve reproductive outcomes for patients with demonstrated deficient endometrial expression related to abnormal gene expression.

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Further Delineation of the McKusick-Kaufman Hydrometrocolpos-Polydactyly Syndrome

Cited by 20 publications

References 9 publications

Hydrometrocolpos with Ectopic Vaginal Opening to the Bladder

Hydrometrocolpos with Ectopic Vaginal Opening to the Bladder

The neonatal management and surgical correction of urinary hydrometrocolpos caused by a persistent urogenital sinus

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

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