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Müllerian Aplasia

Aplasia of the Müllerian Ducts


  • Uterine specimen was filled with blood and no clear cervix was present.[ncbi.nlm.nih.gov]
  • Since the ovary functions normally, secondary sexual characteristics are normally presented in affected women, and the condition goes unnoticed, till the time of puberty, when the first presentation of the condition is in the form of primary amenorrhea[cags.org.ae]
  • Features of the Color Atlas of Pediatric Pathology include: Comprehensive coverage of pediatric surgical and autopsy pathology Each chapter is presented by a recognized expert Practical presentation: concise text highlights diagnostic features making[books.google.com]
  • Most cases present during adolescence when menarche fails to occur. CASE: A 64-year-old woman presented with chronic pelvic pain, primary amenorrhea, and lifelong dyspareunia.[journals.lww.com]
  • The Color Atlas of Pediatric Pathology is a practical working resource for every pathologist who sees pediatric cases as well as the pathology trainee.[books.google.com]
  • History and etymology It is named after the German physician August Franz Josef Karl Mayer (1787-1865), Austrian pathologist Karl Freiherr von Rokitansky (1804-1878), German gynecologist Hermann Küster (1879-?)[radiopaedia.org]
  • You'll laugh, you'll cry as Kristen and her new BFF Uterus watch movies, read books, take a boat ride and bro down. Kristen, you are awesome, we love your spunk and hysterical video![iheartguts.com]
  • New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more. "...a valuable reference[books.google.com]
Lower Abdominal Pain
  • The first case was a married 19-year old female who presented with primary amenorrhea and episodic lower abdominal pain, but without any coital problems. There was no history suggestive of hypothalamic or pituitary causes.[cags.org.ae]
  • abdominal pain, and regular menses.[glowm.com]
  • The primary complaint at referral was primary amenorrhea (85.3%), followed by lower abdominal pain (4.5%) and dyspareunia (3.8%). Karyotyping and hormonal examinations were normal in 97.1% and 93.8% of the patients, respectively.[academic.oup.com]
  • Affected females manifest dysgenesis of Mullerian duct derivatives absent or rudimentary uterus and vagina, functional ovaries, primary amenorrhea, hyperandrogenism and hirsutism.[malacards.org]
  • […] are unable to have children (infertile).Women with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism[ncbi.nlm.nih.gov]
  • Women with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism).[ghr.nlm.nih.gov]
Hydrops Fetalis
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care[books.google.com]
Short Arm
  • We have studied the TSPY1 gene and 38 additional male-specific fragments covering areas of both the long and short arms of the Y chromosome in Finnish patients with Müllerian aplasia. DESIGN: A retrospective study.[ncbi.nlm.nih.gov]
  • Some find out earlier through surgeries for other conditions, such as a hernia. [ citation needed ] Causes [ edit ] WNT4 (found on the short arm (p) of chromosome 1 ) has been clearly implicated in the atypical version of this disorder.[en.wikipedia.org]
  • Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 1q21.1” refers to band 21.1 on the long arm of chromosome 1.[rarediseases.org]
  • Schematic representation of the 22q11.1-q11.23 chromosomal region between 15 and 23 Mb from the telomeric end of the short arm.[ojrd.biomedcentral.com]
  • Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus.[books.google.com]
Vaginal Discharge
  • discharge 473 Psychological gender development in individuals born with ambiguous genitalia 492 Eating disorders in adolescence 509 Nutritional amenorrhoea longterm sequelae 522 How to set up a service how to teach and train 533 Index 541 حقوق النشر[books.google.com]
  • Another disadvantage of this procedure is the patient will likely have chronic vaginal discharge and may need to wear a pad all the time.[youngwomenshealth.org]
  • The patient should be asked about any vaginal discharge, bleeding, pelvic pain, or dyspareunia. Pelvic examinations should be performed if there are concerns about complications, vaginal stricture, or stenosis.[acog.org]
Enlarged Uterus
  • Enlarged uterus with endometrial streak was evident on pelvic scan and both ovaries were normal.[cags.org.ae]
Cervix Disorder
  • Other incomplete septa may cause no dyspareunia, and pregnancies have occurred so it is clear that sperm have traversed the opening from the partial transverse septum to the cervix.[glowm.com]


  • Further workup revealed a case of MURCS association with renal osteodystrophy. This is an as of yet unreported complication/association and must be kept in mind in the treatment of these patients. 1.[file.scirp.org]
  • […] requiring excision Pyelography Perform intravenous pyelography to assess renal structure Retrograde pyelography can be used to assess the renal collecting system, and it does not require intravenous contrast injection but does require cystoscopy See Workup[emedicine.medscape.com]


  • Diagnosis of vaginal and cervical agenesis is complicated in low-resource settings and treatment must be modified when subspecialty care and consistent follow-up are not available.[ncbi.nlm.nih.gov]
  • Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]


  • Prognosis - Mullerian aplasia Not supplied. Treatment - Mullerian aplasia Not supplied. Resources - Mullerian aplasia Not supplied.[checkorphan.org]
  • Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.[miklosandmoore.com]
  • The prognosis of each case varies and is probably dependent on the extent and severity of renal abnormalities.[jpgmonline.com]
  • Prognosis The patient may have normal sexual functioning after surgical reconstruction. However, surgical vaginal reconstruction does not establish the ability to conceive through natural means.[emedicine.medscape.com]


  • Despite intense research, no major genes have been found to explain the complex genetic etiology.[ncbi.nlm.nih.gov]
  • This unusual case illustrates the importance of always evaluating the etiology of primary amenorrhea and understanding the embryologic basis for dysgenesis disorders of the female reproductive tract.[journals.lww.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Our review focuses on historical and recent data regarding the genetics of the hypothalamic-pituitary-gonadal axis dysfunction, as well as the development and etiology of eugonadal disorders including leiomyomata, endometriosis, spontaneous ovarian hyperstimulation[augusta.pure.elsevier.com]
  • Likewise, speculation on the pathophysiology of this disorder abounds but the etiology continues to be a mystery. Fortunately, the diagnosis is usually not difficult and requires little if any interventional procedures.[scinapse.io]


  • […] not yet been identified, MRKH syndrome appears to be transmitted in an autosomal dominant fashion, with incomplete penetrance and variable expressivity. [2, 11] It has been suggested that the pathogenesis of the condition may be multifactorial. [12] Epidemiology[emedicine.medscape.com]
  • […] development of engineered vaginas using the patient's own cells has resulted in fully functioning vaginas capable of menstruation and orgasm in a number of patients showing promise of fully correcting this condition in some of the sufferers. [20] [21] Epidemiology[en.wikipedia.org]
  • PubMed Google Scholar Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Prieto L, Frias JL: Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers.[ojrd.biomedcentral.com]
  • The Danish Civil Registration System as a tool in epidemiology . Eur J Epidemiol 2014 ; 29 : 541 – 549 . . The Danish National Patient Registry: a review of content, data quality, and research potential . Clin Epidemiol 2015 ; 7 : 449 – 490 . .[academic.oup.com]
Sex distribution
Age distribution


  • Likewise, speculation on the pathophysiology of this disorder abounds but the etiology continues to be a mystery. Fortunately, the diagnosis is usually not difficult and requires little if any interventional procedures.[scinapse.io]
  • Kidney stones: pathophysiology and medical management. Lancet 2006; 367:333-44. Worcester E, Parks JH, Josephson MA, Thisted RA, Coe Fl. Causes and consequences of kidney loss in patients with nephrolithiasis. Kidney Int 2003; 64:2204-13.[revistas.ufpr.br]
  • Pathophysiology At approximately 5 weeks' gestation, the müllerian ducts stop developing. The skeleton, which is derived from the embryonic mesoderm, is vulnerable to developmental disturbances at this time.[emedicine.medscape.com]


  • Molecular pathology Caused by defects of WNT4 which, with its cognate nuclear receptor, antagonise the testis-determining factor, controlling female development and preventing testes formation.[medical-dictionary.thefreedictionary.com]
  • Our database lists the following as having Mullerian aplasia as a symptom of that condition: * Al Awadi syndrome Prevention - Mullerian aplasia Not supplied.[checkorphan.org]
  • Another goal of treatment is to prevent or treat endometriosis and its sequels. Psychological support to the affected patient and her family is equally important.[cags.org.ae]
  • Following surgery, dilators are kept in order to prevent vaginal stenosis. The Veccihietti technique is a laparoscopic one which improves the vagina of an MA-affected woman so much as to make it comparable to a normal vagina.[primehealthchannel.com]
  • Integrated More information LIFE EXPECTANCY IN ROMÂNIA JOURNAL OF PREVENTIVE MEDICINE 2008; 16(1-2): 10-23 LIFE EXPECTANCY IN ROMÂNIA Anca Vitcu 1, Luminiţa Vitcu 2, Elena Lungu 3, Adriana Galan 2 1. University Al. I.[docplayer.net]

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