Familial Swyer syndrome: a rare genetic entity

@article{Banoth2018FamilialSS,
  title={Familial Swyer syndrome: a rare genetic entity},
  author={Manilal Banoth and Ramana Reddy Naru and Mohammed Basheeruddin Inamdar and Amit kumar Chowhan},
  journal={Gynecological Endocrinology},
  year={2018},
  volume={34},
  pages={389 - 393}
}
Swyer syndrome is a pure gonadal dysgenesis associated with a 46 XY karyotype and primary amenorrhea in a phenotypic female. [...] Key Method Index case - A 23-year-old female with primary amenorrhea is presented with a mass per abdomen. The clinical findings and laboratory investigations revealed hypergonadotropic hypogonadism picture and, imaging revealed a left ovarian tumor. Primary surgical debulking of ovarian cancer was done, histopathology of which revealed a dysgerminoma FIGO stage IIIC. The family…Expand
1 Citations
A non-surgical approach to 46,XY differences in sex development through hormonal suppression at puberty: a single-center case series study
TLDR
In the initial experience, gonadal preservation with hormonal suppression is a tool in multidisciplinary management of select DSD patients with female gender identity with conditions associated with androgenization at puberty. Expand

References

SHOWING 1-10 OF 12 REFERENCES
Differentiating Swyer syndrome and complete androgen insensitivity syndrome: a diagnostic dilemma.
TLDR
The diagnosis of Swyer syndrome can be challenging, because visualization of müllerian structures is sometimes difficult and analysis of genetic mutations is not helpful in the majority of cases. Expand
46, XY Disorder of Sex Development
TLDR
A case of a 22 years old patient presented to us with a chief complain of primary amenorrhea, which revealed completely female external genitalia with mild clitoral enlargement, breast development Tanner stage II, and height 157 cm, and chromosomal analysis revealed a 46, XY karyotype, and detected SRY gene. Expand
Tumors of Bilateral Streak Gonads in Patients with Disorders of Sex Development Containing Y Chromosome Material
  • F. Matsumoto, K. Shimada, S. Ida
  • Medicine
  • Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
  • 2014
TLDR
In this series of DSD patients with bilateral streak gonads and Y chromosome material, the risk of gonadal tumor was high and early prophylactic gonadectomy is strongly recommended. Expand
Familial Swyer syndrome in two sisters with undeveloped uterus
TLDR
MRI features of ovarian fi broma and fi brothecoma with histopathologic correlation and Retroperitoneal extraovarian fi bro thecoma mimicking a malignant epithelial ovarian carcinoma are studied. Expand
Tumor de clulas germinales de ovario: caractersticas clnicas y resultados del tratamiento
TLDR
Surgical procedure was conservative and a favorable outcome was observed for the chemotherapy cycles, and the left ovary was affected in 75% of cases. Expand
Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging.
TLDR
It is shown that associated malformations are present in more than a third of cases and new basic guidelines for standard diagnostic classification involving patients with suspected MRKH are presented. Expand
A case report of successful pregnancy in a patient with pure 46,XY gonadal dysgenesis.
TLDR
With the use of donor oocytes, patients with pure 46,XY gonadal dysgenesis can anticipate successful pregnancy and delivery of a healthy infant following in vitro fertilization using donor oocyte and embryo transfer. Expand
Male Pseudohermaphroditism: A Hitherto Undescribed Form
  • G. Swyer
  • Medicine
  • British medical journal
  • 1955
clear view. If traction is maintained on the spleen, pancreas, and splenic vessels the tension on the splenic artery is transmitted to the coeliac axis and consequently to the aorta and renal artery,Expand
Swyer syndrome: presentation and outcomes
TLDR
The spectrum of presentation, natural history and gynaecological outcomes in women with Swyer syndrome is established. Expand
Clinical gynecologic endocrinology and infertility
Clinical gynecologic endocrinology and infertility , Clinical gynecologic endocrinology and infertility , کتابخانه دیجیتال جندی شاپور اهواز
...
1
2
...