A case of mayer-rokitansky-kuster-hayser syndrome with absence of the right thumb
Joint Authors
Pal, Ranabir
Manglik, Arun
Sinha, Neloy
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 19, Issue 2 (30 Apr. 2008), pp.236-240, 5 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2008-04-30
Country of Publication
Saudi Arabia
No. of Pages
5
Main Subjects
Topics
Abstract EN
A 14-year-old feminine adolescent, presented with congenital absence of right thumb, scoliosis, severe anemia, primary amenorrhea without secondary sexual characteristics, except for normally developed breasts.
In the genital area, there was a pair of ill developed labia majora fused at upper end with a whirling pattern containing inside the urethral opening.
The lower end of genitalia had loose skin folds containing adequate amounts of rugae with a raphe, mimicking the texture of scrotal skin.
There was no vaginal orifice.
Diagnostic work-up included routine hematological studies, skeletal radiography, renal ultrasonography, and renal scan to demonstrate possible association between the congenital genitourinary and skeletal anomalies.
Ultrasound imaging studies confirmed that she had structures close to uterus with hematometra, but vagina and ovary were not found.
Sonologically, the left kidney could not be visualized.
Renal scan confirmed agenesis of the left kidney and hypoplastic, parenchymally insufficient, right kidney.
Cytogenetic karyotyping revealed a 46, XX karyotyping and the presence of Barr chromatin body.
Based on the clinical examination and investigations, a diagnosis of Mayer-Rokitansky-Kuster-Hauser syndrome was established with associated limb and skeletal deformities.
American Psychological Association (APA)
Pal, Ranabir& Manglik, Arun& Sinha, Neloy. 2008. A case of mayer-rokitansky-kuster-hayser syndrome with absence of the right thumb. Saudi Journal of Kidney Diseases and Transplantation،Vol. 19, no. 2, pp.236-240.
https://search.emarefa.net/detail/BIM-38233
Modern Language Association (MLA)
Pal, Ranabir…[et al.]. A case of mayer-rokitansky-kuster-hayser syndrome with absence of the right thumb. Saudi Journal of Kidney Diseases and Transplantation Vol. 19, no. 2 (Apr. 2008), pp.236-240.
https://search.emarefa.net/detail/BIM-38233
American Medical Association (AMA)
Pal, Ranabir& Manglik, Arun& Sinha, Neloy. A case of mayer-rokitansky-kuster-hayser syndrome with absence of the right thumb. Saudi Journal of Kidney Diseases and Transplantation. 2008. Vol. 19, no. 2, pp.236-240.
https://search.emarefa.net/detail/BIM-38233
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 239-239
Record ID
BIM-38233