RESUMO
Genital anomalies have been reported with VACTERL association but not considered a core feature. Acute and chronic complications stemming from unrecognized genital anomalies have been reported in adolescents and young adults with VACTERL association. We sought to determine the frequency and severity of genital anomalies in VACTERL patients and identify which core features were more frequently associated with genital anomalies. A retrospective chart review from January 2010 to October 2021 identified 211 patients with two or more core VACTERL features, 34% of whom had a genital anomaly. The majority of genital anomalies (83% of those in males and 90% in females) were classified as functionally significant (requiring surgical intervention or causing functional impairment). The frequency of genital anomalies in the VACTERL cohort was higher if anorectal malformations or renal anomalies were present in both males and females and if vertebral anomalies were present in females. Due to their functional significance, genital anomalies should be assessed in all patients with two or more core features of VACTERL association, especially in those with anorectal or renal anomalies. Most genital anomalies in males will be detected on physical examination but additional investigation is often needed to detect genital anomalies in females. The timing and type of investigation are subjects for future study.
Assuntos
Canal Anal , Esôfago , Cardiopatias Congênitas , Rim , Deformidades Congênitas dos Membros , Coluna Vertebral , Traqueia , Humanos , Masculino , Feminino , Canal Anal/anormalidades , Canal Anal/patologia , Deformidades Congênitas dos Membros/patologia , Deformidades Congênitas dos Membros/genética , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/epidemiologia , Esôfago/anormalidades , Esôfago/patologia , Coluna Vertebral/anormalidades , Coluna Vertebral/patologia , Traqueia/anormalidades , Traqueia/patologia , Adolescente , Cardiopatias Congênitas/patologia , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/diagnóstico , Rim/anormalidades , Rim/patologia , Adulto , Estudos Retrospectivos , Criança , Adulto Jovem , Pré-Escolar , Anormalidades Urogenitais/epidemiologia , Anormalidades Urogenitais/genética , Anormalidades Urogenitais/diagnóstico , Anormalidades Urogenitais/patologia , Lactente , Malformações Anorretais/epidemiologia , Malformações Anorretais/genética , Malformações Anorretais/diagnóstico , Malformações Anorretais/patologia , Genitália/anormalidades , Genitália/patologiaRESUMO
A wide range of genitourinary pathologies can be diagnosed in utero, from a simple vesicoureteral reflux to a more complex disorder of sexual differentiation. The prognosis and neonatal management of these conditions differ significantly. Evaluation of the fetal perineal anatomy is paramount to making the right diagnosis. The aim of this pictorial essay is to show sonographers how to acquire a perineal midsagittal view in a male fetus, and to demonstrate how this specific view allows assessment of the urethra and penis, to differentiate various genitourinary pathologies.
Assuntos
Doenças Urogenitais Masculinas/diagnóstico por imagem , Doenças Urogenitais Masculinas/embriologia , Ultrassonografia Pré-Natal/métodos , Feminino , Humanos , Masculino , Gravidez , Bexiga Urinária , Sistema Urinário/diagnóstico por imagem , Sistema Urinário/embriologiaRESUMO
Congenital uterine anomaly is a female genital disorder caused by developmental anomaly of the Müllerian ducts. In this report, we present a case of repair of congenital 'disconnected uterus' between the cervix and the body of the uterus. The case did not correspond to the consensus classifications that have been proposed for congenital uterine anomaly. The patient was a young woman whose chief complaints were not having first menstruation and experiencing monthly severe lower abdominal pain. Magnetic resonance imaging showed that the uterine body was separated from the uterine cervix. Uteroplasty was conducted to anastomose the separated uterus. Periodic menstruation started 1 month after surgery and abdominal pain was improved. Performance of uteroplasty in this case was extremely significant and greatly improved the quality of life of the patient.
Assuntos
Colo do Útero/anormalidades , Doenças dos Genitais Femininos/patologia , Útero/anormalidades , Adolescente , Colo do Útero/patologia , Colo do Útero/cirurgia , Feminino , Doenças dos Genitais Femininos/cirurgia , Humanos , Útero/patologia , Útero/cirurgiaRESUMO
Fusion failure of the Müllerian ducts is thought to occur congenitally in cattle. We aimed to elucidate the contribution of incomplete fusion of the Müllerian ducts to reproductive difficulties in dairy cattle. We observed the vaginas of Holstein cattle to classify the anomalies into mild and severe types, based on severity of incomplete fusion, and recorded information about the cattle at the time of artificial insemination (AI) or embryo transfer. Of the 1054 Holstein cattle examined, 22 (2.09%) individuals showed incomplete fusion of the Müllerian ducts. Among them, 17 (77.3%) had mild type and 5 (22.7%) had severe type incomplete fusion. We analyzed the changes in the prevalence of these anomalies in previous studies and the present study. The prevalence of incomplete fusion of the Müllerian ducts varied from 0% to 6.98% by dairy breed or region. Linear regression analysis showed that the change in the prevalence over time was not statistically significant, with a regression coefficient of -0.04% per year (r2â¯=â¯0.27; Pâ¯=â¯0.07). The effect of incomplete fusion of the Müllerian ducts on reproductive performance was evaluated by univariate analysis: first service pregnancy rate, number of services, and days from first service to pregnancy were significantly affected in the heifers with the severe types. We next analyzed the effect of incomplete fusion of the Müllerian ducts on conception, using logistic regression analysis. Mild and severe types of incomplete fusion of the Müllerian ducts were selected as explanatory variables, along with heat stress, parity, the number of previous services, AI after ovulation, and sex-sorted semen. The severe types (ORâ¯=â¯0.24, Pâ¯=â¯0.03), but not the mild types (ORâ¯=â¯1.01, Pâ¯=â¯0.98), were significantly associated with conception. In the present study, we divided the incomplete fusion of the Müllerian ducts by severity and demonstrated that the severe types had a significant effect on poor conception in Holstein cattle. Since the adjusted odds of conception of the severe types of incomplete fusion of the Müllerian ducts were approximately 4 times lower than those of the normal cattle, it is important to determine severe incomplete fusion of the Müllerian ducts prior to service.
Assuntos
Doenças dos Bovinos/congênito , Genitália Feminina/anormalidades , Ductos Paramesonéfricos/anormalidades , Animais , Bovinos , Feminino , FertilidadeRESUMO
Imperforate Hymen (IH), an obstructive congenital anomaly of the female genital tract, is seen in 1 in 2000 female births. Treatment of IH is hymenotomy or hymenectomy. Different types of incisions are mentioned in the literature. We reported two cases of IH with different clinical presentations and described a simple virginity preserving and socially acceptable procedure to protect the virginity of the patient. In cultures and religions where the destruction of the hymen is a social problem in unmarried girls, virginity sparing surgery should be chosen in gynecological practice. Here we described a simple procedure without need for prophylactic antibiotic treatment and foley catheter application to form an intact annular hymen in two cases.