scholarly journals PRIMARY AMENORRHEA IN KABUKI SYNDROME: A CASE REPORT

2018 ◽  
Vol 6 (2.3) ◽  
pp. 5306-5309
Author(s):  
Nandha Kumar Subbiah ◽  
◽  
Sarah Ramamurthy ◽  
Aravindhan Karuppusamy ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Primary Amenorrhea ◽  
Kabuki Syndrome

scholarly journals Systematic review of Kabuki Syndrome’s phenotype with KMT2D gene mutation

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Leonardo Bonini Fischetti ◽  
Julia Zaccarelli Magalhães ◽  
André Rinaldi Fukushima ◽  
Paula Waziry ◽  
Esther Lopes Ricci
Keyword(s):  
Systematic Review ◽  
Differential Diagnosis ◽  
Case Report ◽  
Animal Models ◽  
Case Reports ◽  
Accurate Diagnosis ◽  
Kabuki Syndrome ◽  
Live Births ◽  
Comparative Review ◽  
Secondary Phenotypes

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.

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

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

Primary Amenorrhea: A Diagnostic Dilemma Case Report

2009 ◽  
Vol 22 (2) ◽  
pp. e48
Author(s):  
Shamsa Deeb ◽  
Amanda Black ◽  
Nathalie Fleming
Keyword(s):  
Case Report ◽  
Primary Amenorrhea ◽  
Diagnostic Dilemma

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

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.

scholarly journals Spinal ependymoma in a patient with Kabuki syndrome: a case report

2015 ◽  
Vol 16 (1) ◽  
Author(s):  
Davide Roma ◽  
Paolo Palma ◽  
Rossella Capolino ◽  
Lorenzo Figà-Talamanca ◽  
Francesca Diomedi-Camassei ◽  
...  
Keyword(s):  
Case Report ◽  
Kabuki Syndrome ◽  
Spinal Ependymoma

Kabuki syndrome: a case report

2006 ◽  
Vol 33 (4) ◽  
pp. 242-245 ◽  
Author(s):  
Z. H. S. Lung ◽  
A. Rennie
Keyword(s):  
Case Report ◽  
Kabuki Syndrome

scholarly journals Kabuki syndrome: from Japanese theater to Poland – a case report

2019 ◽  
Vol 28 (56) ◽  
pp. 57-61
Author(s):  
Bartosz Kępka ◽  
◽  
Katarzyna Marzęda ◽  
Magdalena Chrościńska-Krawczyk ◽  
◽  
...  
Keyword(s):  
Case Report ◽  
Kabuki Syndrome

Abstract #909: Primary Amenorrhea and Diabetes Mellitus: A Case Report

2017 ◽  
Vol 23 ◽  
pp. 196
Author(s):  
Bolanle Okunowo ◽  
Adeola Odeniyi ◽  
Adeyemi Okunowo ◽  
Olufemi Fasanmade ◽  
Sandra Iwuala ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Case Report ◽  
Primary Amenorrhea

scholarly journals Incidental gonadoblastoma in swyer syndrome: a case report with brief review of literature

2021 ◽  
Vol 10 (5) ◽  
pp. 2107
Author(s):  
Gayatri Suresh ◽  
Rinchen Zangmo ◽  
Kallol Kumar Roy ◽  
Rakhi Rai ◽  
Deepali Garg ◽  
...  
Keyword(s):  
Case Report ◽  
Y Chromosome ◽  
Malignant Transformation ◽  
Sexual Differentiation ◽  
Adolescent Girl ◽  
Primary Amenorrhea ◽  
Review Of Literature ◽  
Adnexal Masses ◽  
Swyer Syndrome

Swyer syndrome is a disorder of sexual differentiation with an incidence of 1 in 80,000 population. Dysgenetic gonads have a propensity for malignant transformation particularly in the presence of Y chromosome and hence need prophylactic removal. We report a case of an adolescent girl who presented with primary amenorrhea who was identified as a case of 46 XY dysgenesis after karyotype studies. Extirpation of gonads were done laparoscopically and on histopathological assessment gonadoblastoma was detected. This case report aims to reiterate the importance of gonadectomy in patients with swyer syndrome as tumors could arise even in the absence of frank adnexal masses.

Sign in / Sign up

Export Citation Format

Share Document