Persistent mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism caused by defects in synthesis or actions of mullerian inhibiting factor characterised by persistence of mullerian duct structures in a normal karyotype male. Transverse testicular ectopia (TTE) is a rare disease in which both testes are located in the same inguinal canal. We report a case of PMDS with TTE in a 1-year-old child who presented with non-palpable testis on right side with hernia on left side. Left herniotomy with bilateral trans-septal orchidopexy was done in this patient.
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http://dx.doi.org/10.1136/bcr-2017-223994 | DOI Listing |
Case Rep Obstet Gynecol
January 2025
Department of Medicine, Ethio Tebib Hospital, Addis Ababa, Ethiopia.
Müllerian duct anomalies and uterine leiomyomas represent distinctive facets of female reproductive health. While uterine leiomyomas are prevalent reproductive pathologies, the coexistence of Müllerian anomalies and leiomyomas is relatively uncommon. This case study examines the complex medical and surgical management of a woman who initially presented with chronic abdominal pain and swelling.
View Article and Find Full Text PDFGinekol Pol
January 2025
Department of Clinical Dietetics, Faculty of Health Sciences, Medical University of Warsaw, Poland, Poland.
Anti-Müllerian hormone (AMH), also known as Müller duct inhibitory factor and primarily known for its role in sexual differentiation. In female fetuses, AMH production by granulosa cells begins around the 36th week of gestation and continues in women until menopause. It is becoming more significant in the endocrine and gynecological diagnosis of adult women.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
February 2025
Division of Dermatology, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110.
Classical tissue recombination experiments demonstrate that cell-fate determination along the anterior-posterior axis of the Müllerian duct occurs prior to postnatal day 7 in mice. However, little is known about how these cell types are maintained in adults. In this study, we provide genetic evidence that a balance between antagonistic retinoic acid (RA) and estrogen signaling activity is required to maintain simple columnar cell fate in adult uterine epithelium.
View Article and Find Full Text PDFAm J Med Genet A
January 2025
NHC Key Laboratory of Endocrinology (Peking Union Medical College Hospital), Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China.
46,XY differences/disorders of sex development (DSD) are genetically heterogeneous conditions characterized by atypical development of the reproductive system. MYRF, a gene encoding a transcription factor, has been identified as a potential causative gene for DSD and cardiac urogenital syndrome (CUGS). This study aims to delineate the clinical manifestations of patients with 46,XY DSD and MYRF mutations, encompassing both from our cohort and cases reported in the literature.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Addis Ababa University, College of Health Sciences, Department of Internal Medicine, Addis Ababa, Ethiopia.
Introduction And Importance: Uterine didelphys is a Müllerian duct anomaly with two uteri and cervices, with or without a vaginal septum. A di-cavitary twin pregnancy in a uterus didelphys is an infrequent occurrence.
Case Presentation: A 27-year-old woman, gravida 3, para 2, at a gestational age of 37 weeks and 4 days, presented with pushing-down pain.
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