Clinical term of association refers to a not randomized congenital malformations which are present in one single subject. The term MURCS is an acronym for (MU) Mullerian, (R) Renal, (C) Cervicothoracic, (S) Somite abnormalities. We communicate a case of a phenotipically normal 16 years old female patient with primary amenorrhea due to müllerian malformations and cervicothoracic dysplasia integrating the MURCS association diagnosis.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
McIndoe 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.
MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME. LAPAROSCOPIC SIGMOID VAGINOPLASTY FOR THE TREATMENT OF VAGINAL AGENESIS - SINGLE CENTER EXPERIENCE IN GEORGIA. CASE REPORT.
Georgian Med News
September 2024
2Clinic Caraps Medline, Tbilisi, Georgia.
Introduction And Hypothesis: Sigmoid vaginoplasty is a safe and acceptable procedure for vaginal agenesis with good cosmetic results and acceptable complications rate. Sigmoid colon vaginoplasty is the treatment of choice because of its large lumen, thick walls resistant to trauma, adequate secretion allowing lubrication, not necessitating prolonged dilatation, and short recovery time. We investigate the feasibility, safety, and clinical therapeutic effect of laparoscopic sigmoid vaginoplasty in women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
View Article and Find Full Text PDFVariability in Design and Materials of Vaginal Stent or Moulds for Vaginal Agenesis - A Systematic Review.
J Hum Reprod Sci
September 2024
Shrimati Chandrawali Devi Dental Clinic, Rohtak, Haryana, India.
Background: Vaginal stents play a crucial role in both non-surgical and surgical management of vaginal agenesis. Different types of stents with variable designs and materials have been described in the literature. However, a summary of various stents described in the existing data and their outcome measures needs to be studied.
View Article and Find Full Text PDFPsychiatric Comorbidities in Women with Complete Androgen Insensitivity Syndrome or Müllerian Aplasia/Agenesis.
J Clin Endocrinol Metab
October 2024
Susan B. Meister Child Health and Evaluation Research Center, Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, USA.
Article Synopsis
- - The study investigates mental health issues in individuals with complete androgen insensitivity syndrome (CAIS) and Müllerian duct aplasia/agenesis (MA), comparing their psychiatric diagnoses to typical male and female reference groups.
- - Results show that CAIS and MA patients experience anxiety and depressive disorders at about twice the rate of male referents, with some MA patients having higher rates of bipolar disorder, particularly those with uterine agenesis.
- - The researchers conclude that while findings are somewhat reassuring, further studies with longitudinal designs are needed to better understand mental health changes in CAIS and MA patients over time.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!