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Objectives Female genital malformations may take the form of individual entities, they may involve neighboring organs or they may occur in the context of complex syndromes. Given the anatomical structures of the vulva, vagina, uterus and adnexa, the clinical picture of malformations may vary greatly. Depending on the extent of the malformation, organs of the urinary system or associated malformations may also be involved. Methods This S2k-guideline was developed by representative members from different medical specialties and professions as part of the guidelines program of the DGGG, SGGG and OEGGG. The recommendations and statements were developed using a structured consensus process with neutral moderation and voted on. Recommendations The guideline is the first comprehensive presentation of the symptoms, diagnosis and treatment options for female genital malformations. Additional chapters on classifications and transition were included.
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Objectives Female genital malformations may be present in the form of individual entities, they may involve neighboring organs or they may occur in the context of complex syndromes. Given the anatomical structures of the vulva, vagina, uterus and uterine appendages, the clinical picture of malformations varies greatly. Methods This S2k-guideline was developed by representative members from different medical specialties and professions as part of the guidelines program of the DGGG, SGGG and OEGGG. The recommendations and statements were developed and voted on using a structured consensus process with neutral moderation. Recommendations This guideline is the first comprehensive summary of female genital malformations from infancy to adulthood which covers clinical examinations, diagnostic workups and treatment options. Additional chapters have been included on complex urogenital malformations, vascular malformations, psychosomatic care, and tumor risk.
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Müllerian anomalies comprise the Mayer-Rokitansky-Küster-Hauser syndrome as well as fusion defects of the müllerian ducts. Recurrent micro-aberrations like deletions in 16p11.2 encompassing TBX6 were found to be causative in these patients. TBX6 encodes a transcription factor which plays a role in paraxial mesoderm differentiation/specification. In previous studies, we and other groups found possibly pathogenic variants in TBX6 in patients with müllerian anomalies. Since we suggested TBX6 as a strong candidate, we performed sequential analysis of the TBX6 gene in additional 125 patients with müllerian anomalies, and 2 possibly pathogenic missense variants and 1 nonsense substitution in TBX6 in 4/125 patients were found. The missense variant c.484G>A, which we have described in a previous study, was reidentified but with no higher frequency as in our controls. We detected 3 possibly pathogenic variants in TBX6 and could show that the variant c.484G>A is not causative for disorders of the müllerian ducts in the non-Finnish European population. In summary, we present increasing evidence for association of variants in TBX6 with malformations of the müllerian ducts.
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Trastornos del Desarrollo Sexual 46, XX/genética , Anomalías Congénitas/genética , Predisposición Genética a la Enfermedad , Conductos Paramesonéfricos/anomalías , Conductos Paramesonéfricos/patología , Mutación/genética , Proteínas de Dominio T Box/genética , Secuencia de Bases , Estudios de Casos y Controles , Femenino , HumanosRESUMEN
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.
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Trastornos del Desarrollo Sexual 46, XX/genética , Anomalías Congénitas/genética , Conductos Paramesonéfricos/anomalías , Mutación , Proteínas de Unión al ARN/genética , Proteínas de Dominio T Box/genética , Trastornos del Desarrollo Sexual 46, XX/diagnóstico , Anomalías Congénitas/diagnóstico , Análisis Mutacional de ADN , Femenino , Predisposición Genética a la Enfermedad , Heterocigoto , Hospitales Universitarios , Humanos , Fenotipo , Estudios RetrospectivosRESUMEN
BACKGROUND: Hepatitis B virus (HBV) can be transmitted by blood donors and organ donors who are positive for antibody to HBV core antigen (anti-HBc) but negative for all other HBV markers. Therefore, we evaluated the risk of infection for babies of mothers with this serostatus. METHODS: A total of 2365 HBV surface antigen (HBsAg)-negative pregnant women were included in the study and screened for anti-HBc. Blood samples for screening were collected 1 day before or after delivery. Infants of mothers with positive anti-HBc test results were tested 3-4 months after birth. RESULTS: Of 2365 mothers, 147 (6.2%) were anti-HBc positive. Follow-up tests were performed using samples from 105 children. Samples were tested for all HBV markers, including HBV DNA, which was evaluated using a highly sensitive polymerase chain reaction assay (Taq PCR). Seven children (6.6%) had markers of HBV infection; the Taq PCR detected HBV DNA in 5, and HBsAg was detected in the other 2. CONCLUSIONS: This study shows that HBV can be transmitted perinatally even in the absence of HBsAg. None of the children developed chronic HBV infection. Further studies must determine whether routine immunization of infants at the age of 3 months gives enough protection against HBV infection or whether screening of pregnant women for HBV should be extended, with immunization of their newborns beginning immediately after birth.
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Anticuerpos contra la Hepatitis B/sangre , Antígenos del Núcleo de la Hepatitis B/sangre , Antígenos de Superficie de la Hepatitis B/sangre , Hepatitis B/transmisión , Transmisión Vertical de Enfermedad Infecciosa , Adulto , ADN Viral/sangre , Femenino , Hepatitis B/inmunología , Hepatitis B/virología , Humanos , Lactante , Adulto JovenRESUMEN
PURPOSE: To compare bipolar vessel sealing (BVS; BiClamp) versus conventional suture ligation in vaginal hysterectomy. METHODS: A multicenter, single-blind randomized controlled trial (RCT) was conducted at eight women's hospitals in Germany. One hundred and seventy-five patients with benign uterine disease underwent vaginal hysterectomy using BVS (n = 88) or conventional suture ligation (n = 87 controls). Data analysis was based on intention-to-treat. RESULTS: Postoperative pain (primary endpoint) was decreased in the BVS group, but not significantly. Intraoperative blood loss was significantly lower in this group, with <100 mL recorded in 79/88 versus 52/86 patients (P < 0.001). Hemoglobin decrease indicated non-significantly lower blood loss in the BVS group. Operating time was significantly shorter in the BVS group than in the controls (38.0 +/- 18.6 vs. 48.0 +/- 24.9 min; P = 0.001). On average, 7.8 sutures/operation were saved with bipolar coagulation (P < 0.0001). Ease of use ratings were significantly higher for BVS. Hospital stay was similar for both groups. Adverse event rates did not differ significantly. CONCLUSIONS: The BiClamp procedure proved superior or similar to conventional ligation, particularly with regard to intraoperative blood loss, operating time and postoperative pain, although statistical significance was not attained for postoperative pain. Moreover, BVS was easier to use and more cost effective.