A female with 46,XY Disorder of Sexual Development with normal SRY gene sequence: A case report
Authors
Abstract:
Background: Disorders of sex development (DSD) are a medical condition that affects the normal process of sexual Various of the genes needed for gonad development have been identified by investigation of patients with disorders sex development (DSD).Phenotypes of patients with 46,XY DSD range from atonalism in female phenotype with complete external genitalia to male phenotype with testicular regression. Individuals with 46,XYagonadiam show a wide range of clinical features and in some cases, there is not a clear diagnosis for this patients. We presented the clinical and molecular study a patient with 46,XY female without gonadal tissue. Case presentation: A 27-year-old female was attended to our center because of primary amenorrhea. Ultrasonography did not show gonadal tissue including Mullerian structures, uterus, and Wolffian structures. Also, the patient had not streak gonad. We performed cytogenetic study and molecular analysis, including automated sequencing of the entire coding region of SRY gene, in the patient with agonadism. Our result showed 46,XY karyotype. Also, we noticed that molecular mutations in SRY are not identified as a cause of DSD female without a gonadal tissue. Laboratory examination showed that this case is a unique patient with 46,XYfemale agonadism that has no association with previously described. Conclusions: The present case was a patient with 46, XYagonadism without hormonal or kidney defect and we did not detect mutation in SRY gene. To our knowledge, this case is a unique patient with 46,XYagonadism that has no association with previously described. So this case would be helpful for clinicians to assess 46,XY female patients without gonadal tissue.
similar resources
A case report of urethral prolapse in a 38 year old female with 46XY karyotype.
A 38-year old female presented with the acute onset of a vulval mass associated with pain and vaginal bleeding. She is female phenotype but has 46XY karyotype and Complete Androgen Insensitivity Syndrome (CAIS). At 15 years old she had a laparotomy and bilateral orchidectomy. Following admission, an examination under anaesthesia and cystoscopy was performed. A diagnosis of strangulated complete...
full textPlacental Mesenchymal Dysplasia With Normal Fetus: A Rare Case Report
Placental mesenchymal dysplasia (PMD) is a rare benign placental abnormality. It is characterized by hydropic degeneration of stem villi, placentomegaly, and increased maternal serum alpha-fetoprotein(AFP). It can be associated with different congenital abnormalities, karyotype abnormalities, and feto-maternal morbidities. It is difficult to differentiate PMDfrom partial mole, complete mole wit...
full textan investigation of the types of text reduction in subtitling: a case study of the persian film gilaneh with english subtitles
چکیده ندارد.
15 صفحه اولSocial Work Intervention with a Child with Attention Deficit Hyperactivity Disorder A Case Report
Introduction: The parent-child relationship is one of the most important relationships a person experiences throughout the life. This period has a crucial role in determining the personality of an adult. For this reason, interventions to educate parents in order to have a better relationship and prevente of possible adulthood trauma are necessary. This study was aimed to report a social work in...
full text46,XX Male Disorder of Sexual Development: A Case Report
The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 4...
full texta comparison of teachers and supervisors, with respect to teacher efficacy and reflection
supervisors play an undeniable role in training teachers, before starting their professional experience by preparing them, at the initial years of their teaching by checking their work within the proper framework, and later on during their teaching by assessing their progress. but surprisingly, exploring their attributes, professional demands, and qualifications has remained a neglected theme i...
15 صفحه اولMy Resources
Journal title
volume 7 issue 1
pages 14- 21
publication date 2019-03
By following a journal you will be notified via email when a new issue of this journal is published.
Hosted on Doprax cloud platform doprax.com
copyright © 2015-2023