Results 91 to 100 of about 2,046,767 (198)

Gonadal dysgenesis and hermaphroditism

, 2020
This thesis has developed from a study of a series of patients with a gonadal dysgenesis. Shortly after the inception of the study, Pelani and his co-workers (1954) published a report on the nuclear chromatin pattern in three cases of the syndrome. Their
Hoffenberg, Raymond
core   +1 more source

Novel variant in WT1 gene associated with MGD and unique kidney disease phenotype

Journal of Rare Diseases
Introduction Wilms tumor 1 (WT1)-related disorders are a group of hereditary disorders caused by alterations in the WT1 gene. WT1 expression is critical for the maturation of many organs, such as the gonads, kidneys, and spleen.
Heba A. Hassan, Inas Mazen, Mona K. Mekkawy, Aya Elaidy, Alaa Kamel, Mona L. Essawi   +5 more
doaj   +1 more source

MIXED GONADAL DYSGENESIS

The Japanese Journal of Urology, 1977
Hisao Takayasu, Keiko Fukutani, Hajime Ishida, Koichiro Isurugi, Kenji Kinoshita   +4 more
openaire   +2 more sources

A case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation

, 1993
We report a case of mixed gonadal dysgenesis with 45 X/46 XY karyotype and aortic coarctation. An eight month-old patient was admitted to our endocrinology department for evaluation of ambiguous genitalia.
Ozen, E., Buyukgebiz, A., Ünsal, Şevket, Akcoral, A., Ören, Hale, Sakizli, M.   +5 more
core   +1 more source

Sexual differentiation disorder - Gonadal dysgenesis

Gonadna disgeneza je specifičan podskup poremećaja spolnog razvoja, obuhvaćajući različite genetičke i fenotipske varijacije. Fokusirajući se na potpunu i parcijalnu gonadnu disgenezu, ovaj rad analizira njihove kliničke prezentacije, genetičke uzroke i ...
Golem, Ana
core   +2 more sources

Case Report: Mixed gonadal dysgenesis with Müllerian remnants mimicking a prostatic utricle in a child with 45,X/46,XY/47,XYY mosaicism. [PDF]

Front Pediatr
Zhang S, Zhou C, Liu D.
europepmc   +1 more source

Spectrum and clinical profile of disorders of sex development: A 10 year experience at a tertiary care center. [PDF]

Pak J Med Sci
Aslam N, Aftab S, Naseer Khan B, Noor-E-Hira.   +3 more
europepmc   +1 more source

Mixed gonadal dysgenesis with 45,X/46,X,idic(Y) karyotype: A case report

Indian Journal of Pathology and Microbiology, 2011
Priyanka Srivastava, R N Makroo, Mohit Chowdhry, Manoj Mishra, Ashish Fauzdar   +4 more
doaj   +1 more source

406 Neonate with mixed gonadal dysgenesis: challenges in sex assignment

BMJ Paediatrics Open, 2021
Rashida Farhad Vasanwala, Shi Yun Chia
doaj   +1 more source

Complex 45,X/46,XY Isochromosome Yp Mosaicism Presenting With Atypical Genitalia and an Incidental CYP21A2 Mutation: A Case Report. [PDF]

Cureus
Alqanea FK, Almusalam MM, Amer R, Boustros L, Nasef M.   +4 more
europepmc   +1 more source