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 +9 more
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Clinical, genetic, and pathological features of male pseudohermaphroditism in dog [PDF]
Reproductive Biology and Endocrinology, 2011 Male pseudohermaphroditism is a sex differentiation disorder in which the gonads are testes and the genital ducts are incompletely masculinized.
Passeri Benedetta +7 more
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Congenital adrenal hyperplasia and vanishing testis: rare case of male pseudohermaphroditism [PDF]
Iranian Journal of Reproductive Medicine, 2016 Background: Congenital adrenal hyperplasia (CAH) and vanishing testes are uncommon diseases that can result from hormonal and mechanical factors.
Azam Ghanei +3 more
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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
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Male pseudohermaphroditism: A case study of 46,XY disorder of sexual development using whole‐exome sequencing [PDF]
Clinical Case Reports, 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.
Oxana Yu. Naumova +9 more
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Identification of a Rare Variant in the <i>SRD5A2</i> Gene in Siblings With 46,XY Disorders of Sexual Development. [PDF]
Case Rep GenetThe 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 +7 more
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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 +4 more
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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 +2 more
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Persistent Mullerian duct syndrome (PMDS): Case report and review of literature
Urology Case Reports, 2022 Persistent Mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism (MPH) which characterized by the presence of uterus, fallopian tubes and upper part of vagina in an otherwise normally differentiated 46, XY male.
Abdullah B. Alanazi +3 more
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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 +6 more
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