Mixed gonadal dysgenesis in 45,X Turner syndrome with gene [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2015 Turner syndrome is the most common chromosomal disorder in girls. Various phenotypic features show depending upon karyotype from normal female through ambiguous genitalia to male.
Jae Yeop Jung +6 more
doaj +3 more sources
A rare case report of 46XY mixed gonadal dysgenesis
Indian Journal of Endocrinology and Metabolism, 2013 A 16-year-old person, reared as female presented with complaints of genital ambiguity and primary amenorrhoea along with lack of secondary sexual characters, but without short stature and Turner′s stigmata.
Rakesh Arora +6 more
doaj +3 more sources
#332 : A Rare Case Report of Mixed Gonadal Dysgenesis with MOS 46, XY, 47,XY+21, 45,X Karyotype
Fertility & Reproduction, 2023 Background and Aims: Mixed gonadal dysgenesis is a condition of unusual and asymmetrical gonadal development leading to an unassigned sex differentiation. A number of differences have been reported in the karyotype, most commonly a mosaicism 45, X/46, XY.
Meycha Dafhonsa +2 more
doaj +2 more sources
Urological management in a pediatric patient with mixed gonadal dysgenesis [PDF]
Urology Case ReportsDisorders of sex development are conditions characterized by alterations in gonadal development that lead to discordance between chromosomal sex, gonadal sex, and phenotypic sex. We report the case of a 4 years old patient with ambiguous genitalia and 45,
Wendy Matilde Chipa Beizaga +9 more
doaj +2 more sources
A Rare Cause of Male Infertility: Mixed Gonadal Dysgenesis
Endocrinology Research and PracticeInfertility is a significant health problem that affects many couples in the reproductive age range globally. While only the male factor is responsible for 20%-30% of cases of infertility, contributing to a further 20%.
Ceren Erdoğan Eroğlu +2 more
doaj +4 more sources
Germ Cell Tumors in 46, XY Gonadal Dysgenesis
Indian Journal of Endocrinology and MetabolismIntroduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital.
Raiz A Misgar +5 more
doaj +2 more sources
Advanced-Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity. [PDF]
Case Rep MedIntroduction Swyer syndrome is a genetic abnormality characterized by a 46,XY karyotype in a phenotypically female individual. Affected individuals typically have average or tall stature, unambiguous genitalia at birth, the presence of Müllerian structures, and bilateral streak gonads.
Oğlak SC +9 more
europepmc +2 more sources
Denys-Drash Syndrome by <i>WT1</i> Gene: Clinical Variability and Management Challenges in Two Saudi Infants. [PDF]
Case Rep EndocrinolBackground Denys‐Drash syndrome (DDS) is a rare genetic disorder characterized by mutations in the Wilms tumor suppressor gene (WT1), leading to a triad of conditions including nephrotic syndrome progressing to end‐stage renal disease (ESRD), Wilms tumor, and ambiguous genitalia.
Al-Amoudi W +5 more
europepmc +2 more sources
Mixed gonadal dysgenesis with an ovotestis on imaging mimicking ovotesticular disorder of sexual differentiation [PDF]
Baylor University Medical Center Proceedings, 2021 Hoang-Kim Le, Krista L Birkemeier
exaly +2 more sources
Clinical management in mixed gonadal dysgenesis with chromosomal mosaicism: Considerations in newborns and adolescents [PDF]
Seminars in Pediatric Surgery, 2019 Erica M Weidler, Kathleen van Leeuwen
exaly +2 more sources