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Single-port Laparoscopic Bilateral Orchiectomy via Total Extraperitoneal Approach in Androgen Insensitivity Syndrome.
J Minim Invasive Gynecol
January 2025
Department of Obstetrics and Gynecology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea. Electronic address:
Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.
Appl Clin Genet
December 2024
Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, 93-338, Poland.
Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals with a 46,XY karyotype. This study aimed to expand the molecular landscape of AIS by identifying and characterizing pathogenic variants in the gene via next-generation sequencing (NGS). Molecular diagnostics revealed eight distinct variants within the gene, two of which had not been previously described.
View Article and Find Full Text PDFMcIndoe Vaginoplasty in MRKHS: Case Report and Literature Review.
Clin Case Rep
December 2024
Department of Obstetrics and Gynecology Tribhuvan University, Institute of Medicine Kathmandu Nepal.
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare congenital disorder characterized by agenesis of the uterus and upper two-thirds of the vagina. It affects around 1 in 4000-5000 females and is of two types: type 1, also known as isolated Müllerian aplasia or Rokitansky, which involves only uterovaginal agenesis, and type 2, presents as uterovaginal agenesis along with renal, cardiac, and other organ anomalies. Despite the absence of vaginal and uterine structures, individuals with MRKHS typically present with normal secondary sexual characteristics and ovarian functions.
View Article and Find Full Text PDFComplexities of complete androgen insensitivity syndrome: insights from a case report and literature review.
J Int Med Res
November 2024
Department of Gynecology, Faculty of Medicine, University Geomedi, Tbilisi, Georgia.
Article Synopsis
- Complete androgen insensitivity syndrome (CAIS) can lead to challenges in diagnosing individuals with a 46, XY karyotype who appear female due to their inability to respond to androgens.
- A case report details how a patient was misdiagnosed during surgery and later incorrectly identified as having another syndrome, but was ultimately given the correct diagnosis and a management plan that postponed surgery until after puberty.
- The report emphasizes the need for a multidisciplinary approach in managing CAIS, calling for improved awareness and personalized treatment plans to provide effective, patient-centered care.
The Potential Health Risks and Benefits of Progesterone in the Transgender Woman Population-A Narrative Review.
J Clin Med
November 2024
Department of Gynecological Endocrinology, Clinical Hospital of Duchess Anna Mazowiecka, Medical University of Warsaw, 2 Karowa Street, 00-315 Warsaw, Poland.
Introduction: Currently, progesterone is notably absent from conventional feminizing hormone therapies for transgender women. Anecdotal reports indicate the potential for health advantages following the incorporation of progesterone into treatment regimens. The primarily female hormone, progesterone naturally surges in women during the menstrual luteal phase.
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