Results 61 to 70 of about 5,340 (169)
Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report
Journal of Nepal Medical Association, 2019 There are various cause of Primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis.
Sundar Shrestha +3 more
doaj +1 more source
Bilateral Gonadoblastoma in a 12‐Year‐Old Girl 4 Years After Wilms' Tumor: A Rare Pediatric Case
Clinical Case Reports, Volume 14, Issue 6, June 2026.ABSTRACT This case of a 12‐year‐old patient who developed bilateral gonadoblastoma 4 years after treatment for Wilms tumor highlights the importance of rigorous, risk‐adapted long‐term surveillance and careful evaluation of incidental gonadal findings, even in asymptomatic patients.
Ahmed Quraish +4 more
wiley +1 more source
Journal of Nepal Medical Association, 2019 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 syndrome is ...
Santosh Kumar Jha +2 more
doaj +1 more source
Case Reports in EndocrinologySummary. Disorders of sexual differentiation are defined as congenital alterations between chromosomal, gonadal, and phenotypic sex. The principal cause of these disorders is an adrenal origin; however, there are infrequent causes, such as congenital ...
Raúl Villanueva Rodríguez +5 more
doaj +1 more source
Contemporary issues in primary amenorrhea: An experience from a Tertiary Care Center
Indian Journal of Endocrinology and Metabolism, 2012 Introduction: Amenorrhea is classified as primary if menstrual bleeding has never occurred in the absence of hormonal treatment. The clinical significance of a lack of regular menstrual cycles extends beyond reproductive concerns.
Ashok Krishna Bhuyan +2 more
doaj +1 more source
Endocrinology Research and Practice, 2014 Swyer syndrome is a pure gonad dysgenesis associating with 46.XY karyotype, primary amenorrhea and presence of female internal genital tract and bilateral streak gonads in a phenotypic female. The diagnosis is usually made at adolescence when the primary
Hakan Korkmaz +2 more
doaj +1 more source
Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis
Archives of Endocrinology and MetabolismSUMMARY A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis.
Sarah Crestian Cunha +7 more
doaj +1 more source
Case Report: De novo DHX37 mutations in Saudi patients with 46,XY differences of sex development
Frontiers in EndocrinologyDifferences of sex development (DSD) are a group of congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. DHX37, a gene involved in ribosome biogenesis, located on chromosome 12, at the 12q24.31 region, has ...
Abeer Alabduljabbar +8 more
doaj +1 more source
NR5A1-related 46,XY partial gonadal dysgenesis: A case report and literature review. [PDF]
Medicine (Baltimore), 2023 Wei X, Li S, He Y.
europepmc +1 more source