Mayer-Rokitansky-Küster-Hauser syndrome
Updates to Case Attributes
The Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is characterized by congenital aplasia of the uterus and 2/3 of the upper vagina in women with normal development of secondary sexual characteristics and a normal karyotype. The The two structures have their origins from Mullerian tissue (ovaries arise separately from the gonadal ridge).
The syndrome is divided into can be thought of as two types:
- type I
that commonly has isolated uterine: agenesis of the uterus and the upper portion of the vagina. In - type II
, there is: an association of renal defects, vertebral and, to a lesser extent, to auditory and cardiac alterations. The(MURCS)
The first clinical sign of the syndrome is a primary amenorrhoea in young women with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, in addition to karyotype 46, XX.
This case was kindly provided by Dra. Luciane Schuller.
-<p>The Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) is characterized by congenital aplasia of the uterus and 2/3 of the upper vagina in women with normal development of secondary sexual characteristics and a normal karyotype. The syndrome is divided into type I that commonly has isolated uterine agenesis and the upper portion of the vagina. In type II, there is an association of renal defects, vertebral and, to a lesser extent, to auditory and cardiac alterations. The first clinical sign of the syndrome is a primary amenorrhoea in young women with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, in addition to karyotype 46, XX.</p><p>This case was kindly provided by Dra. Luciane Schuller.</p>- +<p>The <a title="Mayer-Rokitansky-Küster-Hauser syndrome" href="/articles/mayer-rokitansky-kuster-hauser-syndrome">Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)</a> is characterized by congenital aplasia of the uterus and 2/3 of the upper vagina in women with normal development of secondary sexual characteristics and a normal karyotype. The two structures have their origins from Mullerian tissue (ovaries arise separately from the gonadal ridge).</p><p>The syndrome can be thought of as two types:</p><ul>
- +<li>type I: agenesis of the uterus and the upper portion of the vagina</li>
- +<li>type II: an association of renal defects, vertebral and, to a lesser extent, to auditory and cardiac alterations (<a title="MURCS" href="/articles/murcs-association">MURCS</a>)</li>
- +</ul><p>The first clinical sign of the syndrome is a primary amenorrhoea in young women with normal development of secondary sexual characteristics and normal external genitalia, with normal and functional ovaries, in addition to karyotype 46, XX.</p><p>This case was kindly provided by Dra. Luciane Schuller.</p>
References changed:
- 1. Morcel K, Camborieux L, , Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet journal of rare diseases. 2: 13. <a href="https://doi.org/10.1186/1750-1172-2-13">doi:10.1186/1750-1172-2-13</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/17359527">Pubmed</a> <span class="ref_v4"></span>
- 2. Kara T, Acu B, Beyhan M, Gökçe E. MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. Diagnostic and interventional radiology (Ankara, Turkey). 19 (3): 227-32. <a href="https://doi.org/10.4261/1305-3825.DIR.6341-12.1">doi:10.4261/1305-3825.DIR.6341-12.1</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/23271504">Pubmed</a> <span class="ref_v4"></span>
- 3. Govindarajan M, Rajan RS, Kalyanpur A, Ravikumar. Magnetic resonance imaging diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. Journal of human reproductive sciences. 1 (2): 83-5. <a href="https://www.ncbi.nlm.nih.gov/pubmed/19562052">Pubmed</a> <span class="ref_v4"></span>
- Morcel K, Camborieux L, , Guerrier D. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. Orphanet journal of rare diseases. 2: 13.
- Kara T, Acu B, Beyhan M, Gökçe E. MRI in the diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. Diagnostic and interventional radiology (Ankara, Turkey). 19 (3): 227-32.
- Govindarajan M, Rajan RS, Kalyanpur A, Ravikumar. Magnetic resonance imaging diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome. Journal of human reproductive sciences. 1 (2): 83-5.
Tags changed:
- syndrome
Updates to Study Attributes
Uterus and proximal vaginal canal (2(upper 2/3 upper),) are unidentified (agenesis).There is a tubular image, probably corresponding to the distal vaginal remnant.
The ovaries are normal-appearing.
Arthrodesis of the thoracolumbar spine, with transpedicular rods and screws in L3 and L4.Scoliosis dorsolumbarDorsolumbar scoliosis with curvature to the left and rotation of vertebral bodies.Congenital deformity of the vertebral column, with marked hypoplasia and probable fusion of the vertebral bodies of L1 to L4, with craniocaudal elongation and reduction of the anteroposterior diameter of the vertebral bodies.Hypoplasia of intervertebral discs of L4-L5 and L5-S1.
Updates to Study Attributes
Absence of uterus 2/3 thirds proximal of vagina (the outlined structures are absent).
Normal Ovariesovaries.