Mayer-Rokitansky-Kuster-Hauser sendromu

Mayer-Rokitansky-Kuster-Hauser sendromu, otosomal dominant yolla aktarılan kalıtsal bir sendromdur. Spontan olgulara da rastlanmatadır.

Erkeklerde sperm sayısı çok düşüktür (azospermi). Kız çocuklarındaki çok sayıda genital anomali vardır; Müller kanalı ve Fallop kanalı eksikliği, uterus ve vajina eksikliği ya da hipoplazisi başlıcalarıdır. Her iki cinste kısırlık (infertilite) vardır. Böbreklerden biri eksik (unilateral renal agenezis) olabilir ya da farklı bir yerde bulunabilir.^[1]^[2]^[3]^[4] İskelet sisteminde Boyun-sırt omurlarında (servikotorasik vertebral) defektler, kollarda malformasyonlar bulunabilir.^[5] Serebellum kistleri vardır.^[3]^[4]

Kaynakça

^ Lin HJ, Cornford ME, Hu B, et al. Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients. American Journal of Medical Genetics, 61: 59-62, 1996
^ Pittock ST, Babovic-Vuksanovic D, Lteif A. Mayer-Rokitansky-Kuster-Hauser anomaly and its associated malformations. American Journal of Medical Genetics, 135A: 314-316, 2005
^ ^a ^b Meschede D, Kliesch S, Horst J, Nieschlag E. Azoospermia and segmentation abnormalities of the cervicothoracic spine ('MURCS in the male'). Clinical Dysmorphology, 7: 59-60, 1998
^ ^a ^b Tan TY, Whitela C., Savarirayan R. A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus Clinical Dysmorphology,16: 271-273, 2007
^ Al Kaissi A, Ben Chehida F, Ben Ghachem M, et al. Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association. American Journal of Medical Genetics, 149A: 470-474, 2009

[:0-1] Lin HJ, Cornford ME, Hu B, et al. Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients. American Journal of Medical Genetics, 61: 59-62, 1996

[:1-2] Pittock ST, Babovic-Vuksanovic D, Lteif A. Mayer-Rokitansky-Kuster-Hauser anomaly and its associated malformations. American Journal of Medical Genetics, 135A: 314-316, 2005

[:2-3] Meschede D, Kliesch S, Horst J, Nieschlag E. Azoospermia and segmentation abnormalities of the cervicothoracic spine ('MURCS in the male'). Clinical Dysmorphology, 7: 59-60, 1998

[:3-4] Tan TY, Whitela C., Savarirayan R. A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus Clinical Dysmorphology,16: 271-273, 2007

[5] Al Kaissi A, Ben Chehida F, Ben Ghachem M, et al. Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association. American Journal of Medical Genetics, 149A: 470-474, 2009

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