Results 121 to 130 of about 63,526 (255)
The Need for a Global Registry for Charting the Natural History of Klinefelter Syndrome
Andrology, EarlyView.ABSTRACT Background Although Klinefelter Syndrome (KS) represents the most common sex chromosome aneuploidy, several gaps in knowledge persist regarding optimal management of individuals with this condition. Individuals with KS can have a diverse phenotype including endocrine, neurodevelopmental, and cardiovascular manifestations.
Malika Alimussina +13 more
wiley +1 more source
Persistent Mullerian Duct Syndrome in an Adult Infertile Male: A Case Report
Journal of Nepal Medical AssociationPersistent Müllerian duct syndrome is a rare autosomal recessive disorder of sex development characterized by the presence of Müllerian duct derived structures in a normally virilized, genotypical (46, XY) and phenotypical male.
Nesuma Sedhain +3 more
doaj +1 more source
Persistent Mullerian duct syndrome with testicular seminoma: A report of two cases
Indian Journal of Urology, 2011 Persistent Mullerian duct syndrome is a rare form of male pseudohermaphroditism, characterized by the presence of the Mullerian duct structures in an otherwise phenotypically as well as genotypically normal male.
Renuka V Inuganti +3 more
doaj +1 more source
Persistent Mullerian duct syndrome with seminoma: report of a case
, 1985 Persistent Mullerian duct syndrome is a male hermaphroditism in which remnants of Mullerian ducts occur from abnormality of Mullerian inhibitory factor and often cause transverse testicular ectopia or hernia uteri inguinalis.
若林, 昭 +5 more
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Classification conundrum: Persistent mullerian duct syndrome with hypospadias
, 2016 The disorders of sex development (DSD) are uncommon and have wide phenotypic variation. Due to this, they often cannot be classified properly and go unreported.
Sheetal Arora +2 more
core +1 more source
Pubertal Dynamics of Sertoli and Leydig Cell Dysfunction in Klinefelter Syndrome
Clinical Endocrinology, EarlyView.ABSTRACT Context Klinefelter syndrome (KS), defined by a 47, XXY karyotype, is commonly associated with progressive testicular failure. The precise timing of Sertoli and Leydig cell dysfunction during puberty remains unclear. Objective To determine the onset and progression of testicular insufficiency during puberty in KS, and to assess whether ...
Tredez Axelle +9 more
wiley +1 more source
Clinical Genetics, EarlyView.Genetic causes of Müllerian aplasia remain largely unknown. We report the first molecularly confirmed case of Coffin–Siris syndrome 3 caused by a de novo SMARCB1 variant presenting with Müllerian aplasia, supporting a potential association between BAF complex dysfunction and abnormal Müllerian duct development. Created in BioRender. Herlin, M. K. (2026)
Anneli C. S. Bolund +5 more
wiley +1 more source
Revista de la Facultad de Ciencias Médicas de CórdobaA 21-year-old man presented with blood in his semen and was diagnosed with Persistent Müllerian Duct Syndrome (PMDS). This rare genetic condition occurs due to insufficient Anti-Müllerian Hormone (AMH) production or AMH insensitivity, resulting in the ...
Jheniffer Cação +3 more
doaj +1 more source
European Journal of Haematology, EarlyView.ABSTRACT Concerns about treatment‐related fertility impairment are common among young adult lymphoma survivors. Evidence on the impact of treatment for aggressive non‐Hodgkin lymphoma (NHL) on future childbearing is limited, although many individuals of reproductive age are affected.
Stefanie Antonilli +10 more
wiley +1 more source
Giant mullerian duct cyst: a case report [PDF]
, 1991 27歳男, 本邦20例目であり, 本邦最大の大きさ.ミュラー管嚢胞への精管異所開口は本邦2例目A case of giant mullerian duct cyst is reported. The patient was a 27-year-old male, complaining of microscopic hematuria. A giant cystic abdominal mass was palpable.
稲土, 博右 +4 more
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