Persistent Mullerian Duct Syndrome is extremely rare. Our patient, a 32 years old male, with history of orchidectomy presented with mass abdomen. He was initially diagnosed with seminoma and subsequently treated with chemotherapy. Biopsy of the mass showed germ cell tumour and MRI abdomen revealed female rudimentary organs confirmed on per operative and later on histopathology. Karyotype was 46 XY.
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Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.
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November 2024
Endocrinology Department, Elias Emergency University Hospital, 011461 Bucharest, Romania.
: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.
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Department of Paediatric Surgery, Institute of Child Health, Madras Medical College and Hospital, Park Town, Chennai, Tamil Nadu 600003, India.
An uncommon congenital abnormality known as crossed testicular ectopia (CTE) or transverse testicular ectopia (TTE) occurs when both testes migrate into the same hemiscrotum. Inguinal hernia and persistent Müllerian duct syndrome are frequently associated with it. We present a case of "TTE" in a 1-year-old boy with an empty right hemiscrotum and left inguinal hernia.
View Article and Find Full Text PDFRetroverted Uterus in the First Trimester and Associated Pregnancy Outcomes.
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Department of Obstetrics and Gynecology, NYU Langone Hospital-Long Island, NYU Grossman Long Island School of Medicine, Mineola, New York.
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Vaginal Bulge is not Always Prolapse.
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Johns Hopkins-Dibley Memorial (Drs. Murdock and Gruber), Washington, DC, USA.
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An uncommon presentation of persistent Mullerian duct syndrome: A 27-year-old male with Transverse Testicular Ectopia.
Int J Surg Case Rep
December 2024
King Edward Medical University, Lahore 54000, Punjab, Pakistan.
Introduction And Importance: Persistent Mullerian duct syndrome is an exceptional genetic condition that occurs secondary to mutations in AMH and AMHR-II. The individuals with this condition exhibit well-developed secondary sexual characteristics despite having a uterus and fallopian tubes. The case mentioned here was worth reporting due to the scarcity of prevalence of PMDS.
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