'Size does matter': Prophylactic gonadectomy in a case of Swyer syndrome.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of gynecology obstetrics and human reproduction"
DOI: 10.1016/j.jogoh.2019.01.009
Abstract: Swyer syndrome also known as pure or complete gonadal dysgenesis is a very rare disorder of sex development wherein the individuals are phenotypically females with 46, XY genotype and preserved mullerian structures. These individuals characteristically… read more here.
Keywords: gonadal dysgenesis; prophylactic gonadectomy; case; size ... See more keywords
Characterisation of eight cattle with Swyer syndrome by whole-genome sequencing.
Sign Up to like & getrecommendations! Published in 2022 at "Animal genetics"
DOI: 10.1111/age.13280
Abstract: Swyer syndrome is where an individual has the karyotype of a typical male yet is phenotypically a female. The lack of a (functional) SRY gene located on the Y-chromosome is implicated in some cases of… read more here.
Keywords: sry gene; swyer syndrome; cases swyer; whole genome ... See more keywords
Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
DOI: 10.3389/fendo.2022.945030
Abstract: Male sex determination in mammals is initiated by SRY, a Y-encoded transcription factor. The protein contains a high-mobility-group (HMG) box mediating sequence-specific DNA bending. Mutations causing XY gonadal dysgenesis (Swyer syndrome) cluster in the box… read more here.
Keywords: swyer syndrome; tenuous transcriptional; threshold; sex determination ... See more keywords