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MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia): a rare cause of primary amenorrhoea.

Kumar S, Sharma S - Oxf Med Case Reports (2016)

Bottom Line: The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities.MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies and short stature.Our case highlights the rarity and clinical importance of this syndrome.

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Affiliation: Department of Neurology , Shri Ram Murti Smarak Institute of Medical Sciences (SRMS IMS) , Bareilly, Uttar Pradesh , India.

ABSTRACT
The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies and short stature. We report a case of young female with primary amenorrhoea. She had well-developed secondary sexual characteristics along with multiple congenital developmental abnormalities such as the absence of uterus, ectopic kidney, cervical vertebral fusion, hemivertebrae, scoliosis, cervical rib, facial asymmetry and growth retardation. Our case highlights the rarity and clinical importance of this syndrome. For the evaluation of primary amenorrhoea in a female with well-developed secondary sexual characteristics, congenital anomalies should be ruled out before hormone and karyotype analyses.

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Image of female shows short neck and facial asymmetry.
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OMW022F1: Image of female shows short neck and facial asymmetry.

Mentions: A 28-year-old female presented with short stature, recurrent abdominal pain and neck pain from teenage. She never underwent menarche (primary amenorrhoea). There was no such type of illness in family members. Physical examination revealed facial asymmetry, short neck, high arched palate, scoliosis and short stature (height 146 cm). Her secondary sexual characters were well developed with tanner A2P5 B5. The remaining examinations were unremarkable (Figs 1–3).Figure 1:


MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia): a rare cause of primary amenorrhoea.

Kumar S, Sharma S - Oxf Med Case Reports (2016)

Image of female shows short neck and facial asymmetry.
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4836604&req=5

OMW022F1: Image of female shows short neck and facial asymmetry.
Mentions: A 28-year-old female presented with short stature, recurrent abdominal pain and neck pain from teenage. She never underwent menarche (primary amenorrhoea). There was no such type of illness in family members. Physical examination revealed facial asymmetry, short neck, high arched palate, scoliosis and short stature (height 146 cm). Her secondary sexual characters were well developed with tanner A2P5 B5. The remaining examinations were unremarkable (Figs 1–3).Figure 1:

Bottom Line: The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities.MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies and short stature.Our case highlights the rarity and clinical importance of this syndrome.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Neurology , Shri Ram Murti Smarak Institute of Medical Sciences (SRMS IMS) , Bareilly, Uttar Pradesh , India.

ABSTRACT
The agenesis of the Müllerian duct is the second most common cause of primary amenorrhoea after Turner syndrome. The abnormal development of Müllerian duct often associates with the urinary tract and skeletal abnormalities. MURCS (Müllerian duct aplasia-renal agenesis-cervicothoracic somite dysplasia) association is a unique and rare developmental disorder with four common features of uterine hypoplasia or aplasia, renal agenesis or ectopy, vertebral anomalies and short stature. We report a case of young female with primary amenorrhoea. She had well-developed secondary sexual characteristics along with multiple congenital developmental abnormalities such as the absence of uterus, ectopic kidney, cervical vertebral fusion, hemivertebrae, scoliosis, cervical rib, facial asymmetry and growth retardation. Our case highlights the rarity and clinical importance of this syndrome. For the evaluation of primary amenorrhoea in a female with well-developed secondary sexual characteristics, congenital anomalies should be ruled out before hormone and karyotype analyses.

No MeSH data available.


Related in: MedlinePlus