Results 1 to 10 of about 8,597 (215)

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

BMC Vet Res, 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
Kusaka H, Sugiyama M, Kameshima S, Kakizaki T, Suzuki Y, Ando R, Miura H, Kikuchi M, Kawaguchi H, Sakaguchi M.   +9 more
europepmc   +2 more sources

Clinical, genetic, and pathological features of male pseudohermaphroditism in dog. [PDF]

Reprod Biol Endocrinol, 2011
Male pseudohermaphroditism is a sex differentiation disorder in which the gonads are testes and the genital ducts are incompletely masculinized.
Bigliardi E, Parma P, Peressotti P, De Lorenzi L, Wohlsein P, Passeri B, Jottini S, Cantoni AM.   +7 more
europepmc   +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 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

Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism. [PDF]

Int J Reprod Biomed, 2016
Background: Congenital adrenal hyperplasia (CAH) and vanishing testes are uncommon diseases that can result from hormonal and mechanical factors.
Ghanei A, Mohammadzade G, Zarepur E, Soheilikhah S.   +3 more
europepmc   +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

Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole-exome sequencing. [PDF]

Clin Case Rep, 2020
The study shows that whole‐exome sequencing is a promising approach to detect novel variants—and gene candidates in DSD, that, as a future direction, may improve the diagnostic gene panels for this heterogeneous disorder.
Naumova OY, Rychkov SY, Burenkova OV, Solodunova MY, Polyanskaya IV, Arintcina IA, Zhukova MA, Ovchinnikova IV, Zhukova OV, Grigorenko EL.   +9 more
europepmc   +2 more sources

Fortuitous Persistent Müllerian Duct Syndrome Diagnosis in an Adult Patient With Hematuria: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Persistent Müllerian duct syndrome is a genetic disorder. It consists of Müllerian duct remains due to improper anti‐Müllerian hormone. Early life presentation is often associated with undescended testes or inguinal hernias. Late diagnosis is rarer and poses a diagnostic challenge.
Boitsios A, Schick T, Brawermann R, Buggenhout A.   +3 more
europepmc   +2 more sources

Chromosomal Study is Must for Prepubertal Girl with Inguinal Hernia: Opportunity to Diagnose Complete Androgen Insensitivity Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2015
The sufferers of complete androgen insensitivity syndrome (CAIS) are phenotypic females despite of having functional testes and normal male karyotype.
Sudipto Konar, Debdeep Dasgupta, Dipak Kumar Patra, Angshuman De, Barindranath Mallick   +4 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

Persistent Mullerian duct syndrome with polycystic ovary in a young adult: A rare case report

Radiology Case Reports, 2023
Persistent Mullerian Duct Syndrome (PMDS) is a type of pseudohermaphroditism that occurs in males. It is an autosomal recessive type of familial disease that is commonly associated with a history of consanguinity.
Zuhal Y. Hamd, PhD, Muthab A. Mohammed Ali, MSc, Amal I. Alorainy, PhD, Awadia Gareeballah, PhD, Anas Hamdoun, PhD, E. Manssor, PhD, Basim Abdullah. Alhomida   +6 more
doaj   +1 more source