J. Hucke

Hysteroscopic treatment of congenital uterine malformations causing hemihematometra: a report of three cases

To our knowledge, this is the first case report of hysteroscopic treatment of congenital uterine malformations with one-sided occlusion causing hemihematometra. This rare form of uterine anomaly should be considered when symptoms such as increasing pelvic pain start with menarche. A 9-mm resectoscope was used for dissecting the way into the occluded part of the uterine body. There the endometrium was ablated for prevention of recurrence of hemihematometra. By this endoscopic approach the disadvantages of laparotomy could be avoided in three adolescent patients.

Mutations in WNT9B are associated with Mayer-Rokitansky-Küster-Hauser syndrome.

Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS) is a well‐known malformation pattern of the Müllerian ducts (MDs) characterized by congenital absence of the uterus and vagina. To date, most cases remain unexplained at molecular level. As female Wnt9b‐/‐ mice show a MRKHS‐like phenotype, WNT9B has emerged as a promising candidate gene for this disease. We performed retrospective sequence analyses of WNT9B in 226 female patients with disorders of the MDs, including 109 patients with MRKHS, as well as in 135 controls. One nonsense mutation and five likely pathogenic missense mutations were detected in WNT9B. Five of these mutations were found in cases with MRKHS accounting for 4.6% of the patients with this phenotype. No pathogenic mutations were detected in the control group (p = 0.017). Interestingly, all of the MRKHS patients with a WNT9B mutation were classified as MRKHS type 1, representing 8.5% of the cases from this subgroup. In previous studies, two of the patients with a WNT9B mutation were found to carry either an additional deletion of LHX1 or a missense mutation in TBX6. We conclude that mutations in WNT9B were frequently associated with MRKHS in our cohort and some cases may be explained by a digenic disease model.

Variations in RBM8A and TBX6 are associated with disorders of the müllerian ducts.

OBJECTIVE To identify genetic causes of malformations of the müllerian ducts. DESIGN Retrospective laboratory study. SETTING University hospital. PATIENT(S) A total of 167 patients with disorders of the müllerian ducts: 116 patients with Mayer-Rokitansky-Küster-Hauser syndrome and 51 patients with fusion disorders of the müllerian ducts. The control group was composed of 94 fertile women with at least one child. INTERVENTION(S) Sequential analysis of RBM8A and TBX6 in a group of 167 clinically well-defined patients with disorders of the müllerian ducts. MAIN OUTCOME MEASURE(S) Identification of rare variants in RBM8A and TBX6. RESULT(S) In total, we detected four RBM8A variants in 13 patients with disorders of the müllerian ducts and two heterozygous TBX6 variants in 5 of 167 patients. CONCLUSION(S) Mutations of RBM8A and TBX6 are associated with disorders of the müllerian ducts.

Hysteroscopy in Infertility - Diagnosis and Treatment Including Falloposcopy

Diagnostic hysteroscopy should be included routinely in the work-up of invasive examinations for infertility patients. Anyhow, one can rarely expect to find the definite underlying reason for infertility. In infertile patients about 20% of hysteroscopic examinations show some grade of intrauterine abnormalities. Congenital uterine malformations are the most frequently found disorders. In the group of patients with habitual abortions abnormalities are found much more often and can also be more often interpreted as the mainly underlying factor for the repeated abortions. Operative hysteroscopy has become the surgical method of first choice for the treatment of uterine septa, submucous myomas, polyps and synechia. After septum dissection results are excellent. Myoma removal also shows beneficial effects on fertility; nevertheless, cases are not too frequent among infertility patients. In cases of high-grade Ashermans syndrome, the prognosis after hysteroscopic surgery is still often poor.

Array-CGH Analysis in Patients with Müllerian Fusion Anomalies

Fusion anomalies of the Müllerian ducts are associated with an increased risk for miscarriage and premature labor. In most cases polygenic‐multifactorial inheritance can be assumed but autosomal‐dominant inheritance with reduced penetrance and variable manifestation should be considered. We performed array‐comparative genomic hybridization (CGH) analysis in a cohort of 103 patients with Müllerian fusion anomalies. In 8 patients we detected microdeletions and microduplications in chromosomal regions 17q12, 22q11.21, 9q33.1, 3q26.11 and 7q31.1. The rearrangement in 17q12 including LHX1 and HNF1β as well as in 22q11.21 have already been observed in MRKHS (Mayer‐Rokitansky‐Küster‐Hauser syndrome). In summary, we (1) detected causative micro‐rearrangements in patients with Müllerian fusion anomalies, (2) show that Müllerian fusion anomalies and MRKHS may have a common etiology, and (3) identified new candidate genes for Müllerian fusion anomalies.

Salpingoskopie und Falloposkopie

ZusammenfassungDie Evaluierung des “Tubenfaktors” in der Sterilitätsdiagnostik umfasst die Durchgängigkeitsprüfung und funktionelle Diagnostik der Eileiter. Die laparoskopische Beurteilung der Art und Menge von möglicherweise vorhandenen peritubaren Verwachsungen hat nicht den prognostischen Wert wie früher oft angenommen wurde. Ein deutlich aussagekräftigerer prognostischer Parameter ist das Vorhandensein und die Ausprägung von intraluminalen Adhäsionen. Die Salpingoskopie und die Falloposkopie sind endoskopische Verfahren, die zur optischen Beurteilung des endoluminalen Status entwickelt wurden. Indikation zur Durchführung dieser Untersuchungsverfahren sind alle Situationen, bei denen eine tubare Sterilität vermutet wird.AbstractThe evaluation of tubal infertility consists of patency testing together with evaluation of functionality. Sole laparoscopic evaluation of the quantity and degree of adhesions outside the tube can no longer keep up with its role as prognostic marker for subsequent pregnancy. The evaluation of adhesions inside the fallopian tube is more important. Salpingoscopy and falloposcopy were developed for this reason. The indications for these techniques are therefore every situation in which tubal infertility is suspected.

Salpingoskopie: Düsseldorfer Ergebnisse

Bereits mehrere Jahre wurde immer wieder versucht, Vorhersagen uber die Chancen des Auftretens einer Schwangerschaft nach Behandlung tubarer Sterilitat zu machen. Hierdurch haben verschieden Arbeitsgruppen Klassifikationen prasentiert, woraus die American Fertility Society (AFS), Ende 1985 eine Synthese machte. Bei der Einordnung von Hydrosalpingen wird die Qualitat der Mukosa am neuformierten Fimbrientrichter als prognostischer Faktor einkalkuliert. In dieser Studie wurde die Salpingoskopie (SSK) als Beurteilungmethode der gesamten ampullaren Mokosa mit der von der AFS propagierten Klassifikationen bei bei periadnexiellen Verwachsungen und Hydrosalpingen verglichen.

Intrauterine Elektrochirurgie bei Infertilitäts-Patientinnen

Kongenitale und erworbene Fehlbildungen des Uteruscavums konnen das Reproduktionsvermogen der Frau behindern. Eine haufige Form der angeborenen Fehlbildungen ist der Uterus septus oder subseptus, der auf einer inkompletten Fusion der Muller’sehen Gange beruht. Die deutlich erhohte Rate an Fruh- und Spataborten bei Patientinnen mit dieser uterinen Fehlform beruht moglicherweise auf einer praferentiellen Implantationsneigung der Fruchtanlage im Septumbereich, wodurch mangelhafte Vaskularisation ungunstige Entwicklungsbedingungen herrschen. In fruheren Jahren wurde die operative Korrektur dieser Fehlbildung durch eine transabdominelle Metroplastik durchgefuhrt. Heutzutage bietet das endoskopische Verfahren der transzervikalen hysteroskopischen Septumdurch-trennung mit dem Elektrohysteroskop eine einfach zu handhabende, patientenschonende Moglichkeit der Behandlung.