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Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case.

Pai A, Shakir M - Indian J Hum Genet (2013)

Bottom Line: MRKH syndrome may be attributed to an initial affection of the intermediate mesoderm consequently leading (by the end of the 4(th) week of fetal life) to an alteration of the blastema of the cervicothoracicsomites and the pronephricducts.These latter subsequently induce the differentiation of the mesonephric and then the Wolffian and Mullerian ducts.There are very sparse such cases reported.

View Article: PubMed Central - PubMed

Affiliation: Department of General Medicine, Aarupadai Veedu Medical College and Hospital, Puducherry, India.

ABSTRACT
Mayer-Rokitansky-Kuster-Hauser (MRKH) is a malformation complex comprising absent vagina and absent or rudimentary uterus. MRKH syndrome may be attributed to an initial affection of the intermediate mesoderm consequently leading (by the end of the 4(th) week of fetal life) to an alteration of the blastema of the cervicothoracicsomites and the pronephricducts. These latter subsequently induce the differentiation of the mesonephric and then the Wolffian and Mullerian ducts. There are very sparse such cases reported. We present a case of type II MRKH or Mullerian renal cervical somite association (i.e., Mullerian duct aplasia, renal dysplasia, and cervical somite anomalies).

No MeSH data available.


Related in: MedlinePlus

Magnetic resonance imaging abdomen showing absent uterus and vagina. Absent left kidney. Grade-I spondylolisthesis with bilateral spondylosis at L5-S1 level
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Figure 1: Magnetic resonance imaging abdomen showing absent uterus and vagina. Absent left kidney. Grade-I spondylolisthesis with bilateral spondylosis at L5-S1 level

Mentions: Blood routine and renal function tests were normal. Hormone profile included measurement of follicular stimulating hormone, luteinizing hormone, estradiol, and 17-hydroxyprogesterone, which were all normal, indicating normal hypothalamic-pituitary-ovarian axis. An ultrasound scan of the abdomen and pelvis confirmed a blind vagina and poorly formed uterus and absent left kidney. The single right pelvic kidney was within normal limits for size and appearance. Magnetic resonance imaging abdomen revealed absent uterus and vagina presence of ovary at both para iliac region and absent left kidney; Grade-I spondylolisthesis with bilateral spondylosis at L5-S1 level [Figures 1 and 2]. Chromosomal study indicated normal (46, XX) female karyotype [Figure 3], which, obviously, is what differentiates MRKH syndrome from other genital tract development defects such as Turner syndrome (45, 0X) and androgen insensitivity syndrome (46, XY). Two-dimensional echocardiogram carried out was normal. Computed tomography brain carried out showed Dandy Walker malformation with vermian hypoplasia, partial agenesis of corpus callosum, and colpocephaly with obstructive hydrocephalus [Figure 4]. X-ray skull showed Macrocephaly [Figure 5].


Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case.

Pai A, Shakir M - Indian J Hum Genet (2013)

Magnetic resonance imaging abdomen showing absent uterus and vagina. Absent left kidney. Grade-I spondylolisthesis with bilateral spondylosis at L5-S1 level
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3722622&req=5

Figure 1: Magnetic resonance imaging abdomen showing absent uterus and vagina. Absent left kidney. Grade-I spondylolisthesis with bilateral spondylosis at L5-S1 level
Mentions: Blood routine and renal function tests were normal. Hormone profile included measurement of follicular stimulating hormone, luteinizing hormone, estradiol, and 17-hydroxyprogesterone, which were all normal, indicating normal hypothalamic-pituitary-ovarian axis. An ultrasound scan of the abdomen and pelvis confirmed a blind vagina and poorly formed uterus and absent left kidney. The single right pelvic kidney was within normal limits for size and appearance. Magnetic resonance imaging abdomen revealed absent uterus and vagina presence of ovary at both para iliac region and absent left kidney; Grade-I spondylolisthesis with bilateral spondylosis at L5-S1 level [Figures 1 and 2]. Chromosomal study indicated normal (46, XX) female karyotype [Figure 3], which, obviously, is what differentiates MRKH syndrome from other genital tract development defects such as Turner syndrome (45, 0X) and androgen insensitivity syndrome (46, XY). Two-dimensional echocardiogram carried out was normal. Computed tomography brain carried out showed Dandy Walker malformation with vermian hypoplasia, partial agenesis of corpus callosum, and colpocephaly with obstructive hydrocephalus [Figure 4]. X-ray skull showed Macrocephaly [Figure 5].

Bottom Line: MRKH syndrome may be attributed to an initial affection of the intermediate mesoderm consequently leading (by the end of the 4(th) week of fetal life) to an alteration of the blastema of the cervicothoracicsomites and the pronephricducts.These latter subsequently induce the differentiation of the mesonephric and then the Wolffian and Mullerian ducts.There are very sparse such cases reported.

View Article: PubMed Central - PubMed

Affiliation: Department of General Medicine, Aarupadai Veedu Medical College and Hospital, Puducherry, India.

ABSTRACT
Mayer-Rokitansky-Kuster-Hauser (MRKH) is a malformation complex comprising absent vagina and absent or rudimentary uterus. MRKH syndrome may be attributed to an initial affection of the intermediate mesoderm consequently leading (by the end of the 4(th) week of fetal life) to an alteration of the blastema of the cervicothoracicsomites and the pronephricducts. These latter subsequently induce the differentiation of the mesonephric and then the Wolffian and Mullerian ducts. There are very sparse such cases reported. We present a case of type II MRKH or Mullerian renal cervical somite association (i.e., Mullerian duct aplasia, renal dysplasia, and cervical somite anomalies).

No MeSH data available.


Related in: MedlinePlus