PRIMARY AMENORRHEA IN KABUKI SYNDROME: A CASE REPORT

Kabuki Syndrome is rare and poorly documented, initially mentioned by Niikawa and Kuroki in 1981. The prevalence of the syndrome among live births is 1:32,000. Case reports are now available, which correlates to improved techniques for accurate diagnosis. This study focused on a systematic comparative review of the phenotypes of individuals with Kabuki Syndrome, with the purpose to facilitate diagnosis. The systematic review was done with a bibliographic survey of case studies using the following databases: Pubmed, Science Direct and Google Scholar, in conjunction with the following key-words: Kabuki syndrome, phenotype, KMT2D and case report. The literature shows that patients with this syndrome present five main characteristics, besides several types of secondary phenotypes. These characteristics present variations in permeability as well as expressivity of some genes in individuals, therefore, a characterization through phenotype alone becomes limited, making it necessary to perform genetic analysis for differential diagnosis. In order to increase the knowledge and elucidate mechanisms of Kabuki syndrome, we suggest further studies that utilize animal models.

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Capillary malformations in a child with Kabuki syndrome: A case report

JAAD Case Reports ◽

10.1016/j.jdcr.2019.05.004 ◽

2019 ◽

Vol 5 (6) ◽

pp. 560-562

Author(s):

Nikki C. Geers ◽

H. Bing Thio ◽

Wim J.A. de Kort

Keyword(s):

Case Report ◽

Kabuki Syndrome

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Primary Amenorrhea: A Diagnostic Dilemma Case Report

Journal of Pediatric and Adolescent Gynecology ◽

10.1016/j.jpag.2009.01.040 ◽

2009 ◽

Vol 22 (2) ◽

pp. e48

Author(s):

Shamsa Deeb ◽

Amanda Black ◽

Nathalie Fleming

Keyword(s):

Case Report ◽

Primary Amenorrhea ◽

Diagnostic Dilemma

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Intra-Abdominal Testicular Seminoma in a Woman with Testicular Feminization Syndrome

Case Reports in Radiology ◽

10.1155/2011/592124 ◽

2011 ◽

Vol 2011 ◽

pp. 1-5

Author(s):

Darshana D. Rasalkar ◽

Bhawan K. Paunipagar ◽

Alex Ng ◽

Fernand M. Lai ◽

Shalini Jain Bagaria

Keyword(s):

Case Report ◽

Mr Imaging ◽

Testicular Tumor ◽

Primary Amenorrhea ◽

Imaging Findings ◽

Testicular Feminization ◽

Testicular Seminoma ◽

Chief Complaints ◽

Sex Cord Stromal Tumor

We report a case of intra-abdominal testicular tumor in a 36-year-old married lady presenting with chief complaints of primary amenorrhea. The patient was later diagnosed with testicular feminization syndrome, a form of male pseudohermaphroditism. This testicular tumor was histologically proven as seminoma. Due to rarity, imaging findings in patients with testicular feminization syndrome and intraabdominal testicular tumor have been poorly documented. So far, only one case report had described the combined role of CT and MR imaging in intraabdominal testicular sex-cord stromal tumor. To our knowledge, this case is first to document USG and MR imaging in addition to MR spectroscopy features in intraabdominal testicular seminoma.

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