Urođene anomalije ženskih spolnih organa

master's thesis

• Title (english): Congenital anomalies of the female reproductive tract
• Author: Amalija Puškadija
• Mentor: Mato Pavić (mentor)
• Committee member: Maja Banović (predsjednik povjerenstva)
• Committee member: Dinka Pavičić Baldani (član povjerenstva)
• Committee member: Mato Pavić (član povjerenstva)
• Granter: University of Zagreb; School of Medicine; (Department of Gynecology and Obstetrics); Zagreb
• Defense date and country: 2023-07-13, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Clinical Medical Sciences; Gynecology and Obstetrics

Abstract

Kongenitalne anomalije ženskog reproduktivnog trakta urođena su odstupanja od normalno razvijenog ženskog genitalnog sustava. Najčešći uzroci jesu embrionalna oštećenja u kombinaciji s različitim kromosomskim aberacijama. Dijelimo ih na anomalije gonada, anomalije jajovoda, anomalije u razvitku Mullerovih kanala i anomalije u razvitku vanjskih spolnih organa. Najčešći oblik gonadalne disgeneze je Turnerov sindrom koji se javlja uslijed potpunog ili djelomičnog nedostatka X kromosoma. Kongenitalne anomalije jajovoda rijetka su stanja koja su često asimptomatska i uglavnom se dijagnosticiraju prilikom laparoskopije zbog obrade na neko drugo stanje. Najčešće urođene anomalije ženskih spolnih organa jesu anomalije u razvitku Mullerovih kanala. Postoji mnogo predloženih sustava klasifikacija za navedene anomalije, a najkorištenija je klasifikacija Američkog društva za reproduktivnu medicinu iz 2021. godine. Kongenitalne anomalije Mullerovih kanala, koje se prezentiraju slikom primarne amenoreje, uključuju aplaziju Mullerovih kanala, poznatu kao Mayer-Rokitansky-Kuster-Hauser sindrom (MRKH) te cervikalne i vaginalne anomalije koje u potpunosti opstruiraju genitalni trakt. Jedrnoroga, dvoroga i septirana maternica povezane su s opterećenom reprodukcijskom anamnezom i uzastopnim pobačajima. Simptomi navedenih anomalija su vrlo različiti, od gotovo asimptomatskih pa sve do vrlo opterećene reprodukcijske anamneze, neplodnosti i uzastopnih gubitaka trudnoće. Dijagnoza anomalija postavlja se detaljnim ginekološkim pregledom, dok zlatni standard u dijagnostici urođenih anomalija ženskih spolnih organa svakako predstavlja 3D ultrazvuk, a u određenim situacijama i magnetska rezonanca. Liječenje anomalija je individualno te ovisi o uzroku i kliničkoj slici. Kod asimptomatskih oblika najčešće liječenje nije potrebno, dok se kod pacijentica s opterećenom reprodukcijskom anamnezom i drugim komplikacijama svakako razmatra mogućnost kirurškoga liječenja.

Abstract (english)

Congenital anomalies of the female reproductive tract are congenital deviations from the normally developed female genital system. The most common causes are embryonic damage in combination with various chromosomal aberrations. They can be classified as anomalies of the gonads, anomalies of the fallopian tubes, anomalies in the development of Mullerian ducts and anomalies in the development of external genitalia. The most common form of gonadal dysgenesis is Turner syndrome, which occurs due to the complete or partial absence of the X chromosome. Congenital anomalies of fallopian tubes are rare conditions that are often asymptomatic and are mostly diagnosed during laparoscopy performed for the treatment of other conditions. The most common congenital anomalies of the female reproductive organs are anomalies in the development of Mullerian ducts. There are many proposed classifications for these anomalies, with the most widely used being the classification of the American Society for Reproductive Medicine from 2021. Congenital anomalies of Mullerian ducts, which include aplasia of Mullerian ducts known as Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), as well as cervical and vaginal anomalies that completely obstruct the genital tract, can present as primary amenorrhea. Unicornuate, bicornuate and septate uterus are associated with a history of reproductive complications and recurrent miscarriages. The symptoms of these anomalies vary greatly, from almost asymptomatic to a heavily burdened reproductive history, infertility, and recurrent pregnancy losses. The diagnosis of anomalies is made through a detailed gynaecological examination, while the gold standard in diagnosing congenital anomalies of the female reproductive organs is definitely 3D ultrasound, and in certain situations, magnetic resonance imaging. The treatment of anomalies is individualized and depends on the cause and clinical presentation. Asymptomatic forms often do not require treatment, while in patients with a burdened reproductive history and other complications, the possibility of surgical treatment is undoubtedly considered.

• Keywords: genitalne anomalije; anomalije Mullerovih kanala; primarna amenoreja; uzastopni pobačaji
• Keywords (english): genital anomalies; Mullerian malformations; primary amenorrhea; recurrent miscarriages
• Language: croatian
• URN:NBN: urn:nbn:hr:105:576527
• Study programme: Title: Medicine; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: doktor/doktorica medicine (doktor/doktorica medicine)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2023-10-30 11:26:04