Results 11 to 20 of about 110,162 (292)
Gonadoblastoma in a patient with 46, XY complete gonadal dysgenesis
The Turkish Journal of Pediatrics, 2016 46, XY complete gonadal dysgenesis (Swyer syndrome) is a rare cause of 46, XY sexual development disorder. The patient presented to our clinic with absence of breast development and lack of periods at the age of 17 years.
Melikşah Keskin +6 more
doaj +2 more sources
GONADAL DYSGENESIS AND TESTICULAR TUMOURS [PDF]
The Lancet, 1956 P. J. CARPENTIER +2 more
openalex +4 more sources
DHX37 and NR5A1 Variants Identified in Patients with 46,XY Partial Gonadal Dysgenesis. [PDF]
Life (Basel), 2023 The group of disorders known as 46,XY gonadal dysgenesis (GD) is characterized by anomalies in testis determination, including complete and partial GD (PGD) and testicular regression syndrome (TRS).
de Oliveira FR +9 more
europepmc +2 more sources
A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome
Journal of Human Reproductive Sciences, 2016 46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH)
Sriharibabu Manne +5 more
doaj +2 more sources
State of the art review in gonadal dysgenesis: challenges in diagnosis and management [PDF]
International Journal of Pediatric Endocrinology, 2014 Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized males ...
Bonnie McCann-Crosby +11 more
core +2 more sources
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. [PDF]
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017 Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex-determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes ...
Alaniz, Veronica +8 more
core +2 more sources
Complete gonadal dysgenesis analysis in the population of Latvia: malignant outcomes and a review of literature. [PDF]
Med Pharm Rep, 2022 Background and aim Complete gonadal dysgenesis or Swyer syndrome is a rare genetic disorder characterized by 46,XY karyotype and female phenotype with undeveloped streak gonads and high malignancy risk.
Jakovleva A, Kovalova Z.
europepmc +2 more sources
Urology Annals, 2021 A 22-year-old known case of 45XO/46XY mixed gonadal dysgenesis, reared as a male, presented with complaints of suprapubic and left iliac fossa pain for the past 1 month.
Samson Ravirajendran +4 more
doaj +2 more sources
Indian Journal of Endocrinology and Metabolism, 2013 The association of gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome is very rare. We report a 21-year-old phenotypical female who presented with primary amenorrhea and underdeveloped secondary sexual characteristics.
Viral N Shah +5 more
doaj +2 more sources