Results 1 to 10 of about 7,704 (131)

Advanced-Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity. [PDF]

Case Rep Med
Introduction 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, Söğütçü N, Akgöl S, Adıgüzel Ö, Ateş Eminoğlu HE, Güzel G, Balcı V, Acar E, Acar A, Bozan F.   +9 more
europepmc   +2 more sources

Male pseudohermaphroditism in a complex malformed calf born with an acardius amorphus cotwin—a case report [PDF]

BMC Veterinary Research, 2023
Background Male pseudohermaphroditism is a developmental anomaly wherein animals are genetically and gonadally male, but their internal and/or external genitalia resemble those of females. In cattle, pseudohermaphroditism is often accompanied by multiple
Hiromi Kusaka, Makoto Sugiyama, Satoshi Kameshima, Takehiko Kakizaki, Yasunori Suzuki, Ryo Ando, Hiroshi Miura, Motohiro Kikuchi, Hiroaki Kawaguchi, Minoru Sakaguchi   +9 more
doaj   +2 more sources

Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development. [PDF]

Case Rep Genet
The SRD5A2 gene encodes the steroid 5α‐reductase‐2 isozyme, which converts testosterone to dihydrotestosterone and plays a key role in sexual development and androgen physiology. Deficiency of this enzyme leads to an autosomal recessive sex‐linked disorder associated with ambiguous genitalia and hypovirilization/complete feminization of external ...
Rawal L, Panwar D, Kumar R, Sharma G, Jangra S, Nakra R, Lal V, Thamtam VK.   +7 more
europepmc   +2 more sources

Case Report: Malignant transformation of ganglioneuroma in the rectovaginal septum to malignant peripheral nerve sheath tumor based on neurofibromas [PDF]

Frontiers in Oncology
Malignant peripheral nerve sheath tumor (MPNST) is a type of soft tissue sarcoma that commonly occurs in the trunk, limbs, and head and neck regions, but rarely in the pelvic area. Nearly half of MPNST cases are secondary to neurofibromatosis type 1 (NF1)
Xiaoxiao Xi, Hui Cheng, Shanyu Huang, Chen Wang, Mingzhu Ye, Xin Sun   +5 more
doaj   +2 more sources

Morphological and Imaging Features of Male Pseudohermaphroditism in a Feral Cat

Acta Veterinaria, 2022
A one-year-old European shorthair feral cat with signs of heat was presented at the Veterinary Teaching Hospital of Las Palmas de Gran Canaria University.
Suárez-Cabrera Francisco, Encinoso Mario, Caraballo Adrian, Morales Manuel, Corbera Juan Alberto, Rodríguez-Guisado Francisco, Melián Carlos, Jaber Jose Raduan   +7 more
doaj   +1 more source

MRI findings of Persistent Mullerian Duct Syndrome: A Rare Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2017
Embryologically mullerian duct derivatives lead to formation of female genitalia and wolffian duct derivatives to male genitalia. Presence of mullerian duct derivatives in a chromosomally normal male (XY) leads to male pseudohermaphroditism and is ...
RAMBIR SINGH, SUNIL D KUMAR, NIDHI AGGARWAL   +2 more
doaj   +1 more source

Case Report: Denys–Drash Syndrome With WT1 Causative Variant Presenting as Atypical Hemolytic Uremic Syndrome

Frontiers in Pediatrics, 2020
The WT1 variant is confirmed to be pathogenic for Denys–Drash syndrome (DDS), a rare disorder characterized by early-onset nephrotic syndrome and renal failure, pseudo-hermaphroditism, and a high risk of Wilms' tumor. Several cases of DDS presenting with
Cheng Cheng, Lizhi Chen, Sijia Wen, Zhilang Lin, Xiaoyun Jiang   +4 more
doaj   +1 more source

Female pseudohermaphroditism with urethral duplication: A delayed presentation in adulthood

Indian Journal of Urology, 2022
Female pseudohermaphroditism with urethral duplication presenting as urinary retention in adulthood is extremely rare. We report the case of a 26-year-old female who had multiple failed attempts of per urethral catheterization during a planned cesarean ...
Amit Vijayrao Deshpande, Jitendra D Hazare   +1 more
doaj   +1 more source

Persistent mullerian duct syndrome

Indian Journal of Radiology and Imaging, 2010
Persistent Mullerian duct syndrome (PMDS) is a rare form of internal male pseudohermaphroditism in which Mullerian duct derivatives are seen in a male patient. This syndrome is characterized by the persistence of Mullerian duct derivatives (i.e.
Divya Renu, B Ganesh Rao, K Ranganath
doaj   +3 more sources

A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male

Clinical Case Reports, 2020
Deficiency of the 5‐alpha‐reductase may have an important role in 46,XY DSD in some cohorts. The prenatal ultrasonography and karyotyping can trigger the attention toward the presence of a DSD in fetus.
Setilla Dalili, Bahareh Rabbani, Afagh Hassanzadeh Rad, Shaahin Koohmanaee, Nejat Mahdieh   +4 more
doaj   +1 more source