Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant condition characterized by gastrointestinal polyps, mucocutaneous pigmentation and an increased risk for cancer.
Tunçbilek N. +6 more
core
A Risk of Gonadoblastoma in Familial Swyer Syndrome—A Case Report and Literature Review
A complete gonadal dysgenesis (CGD) with 46,XY karyotype is known as the Swyer syndrome and belongs to the group of 46,XY differences of sex development (DSD). The main problem in patients with Swyer syndrome is the delayed puberty and primary amenorrhea.
Ewa Rudnicka +6 more
core +1 more source
Suspected burned-out ovarian germ cell tumor in Turner mosaicism: a diagnostic challenge-what is your diagnosis? [PDF]
Setty A +5 more
europepmc +1 more source
Swyer syndrome complicated by rapidly progressive invasive ovarian dysgerminoma with bladder and rectal direct invasion: a rare case report. [PDF]
Feng Y +7 more
europepmc +1 more source
Studies of distinct clinical prototypes have significantly contributed to our understanding of evolutionary abnormalities and their association with neoplasia.
C +6 more
core
SRY-negative 46,XX testicular disorder of sex development (de la Chapelle syndrome) presenting with primary infertility: a case report. [PDF]
Srivastava S, Sharma S.
europepmc +1 more source
Kidney transplantation outcomes in children with WT1-associated kidney disease: a single-center cohort study. [PDF]
Abasi R +5 more
europepmc +1 more source
Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis. [PDF]
Villena C +4 more
europepmc +1 more source
Successful live birth after interstitial ectopic pregnancy in a patient with Swyer syndrome following IVF: a case report. [PDF]
Kopko J +4 more
europepmc +1 more source

