RESUMEN
BACKGROUND: Persistent urogenital sinus is one of the rare urogenital anomalies, which commonly presents as hydrometrocolpos. Fetal urinary ascites as a presentation of persistent urogenital sinus is extremely rare. CASE REPORT: We report on a preterm infant with antenatal diagnosis of hydrometrocolpos and massive urinary ascites secondary to urogenital sinus without any bladder or renal abnormalities. CONCLUSION: This case report emphasizes the importance of maintaining a high index of suspicion in the diagnosis of persistent urogenital sinus especially in infants presenting with urinary ascites along with hydrometrocolpos.
Asunto(s)
Ascitis/orina , Colpotomía/métodos , Hidrocolpos/diagnóstico por imagen , Anomalías Urogenitales/diagnóstico por imagen , Vagina/diagnóstico por imagen , Fístula Vesicovaginal/diagnóstico por imagen , Adulto , Ascitis/congénito , Ascitis/diagnóstico por imagen , Femenino , Humanos , Hidrocolpos/congénito , Hidrocolpos/embriología , Recién Nacido , Embarazo , Ultrasonografía Prenatal , Anomalías Urogenitales/embriología , Anomalías Urogenitales/cirugía , Vagina/anomalías , Vagina/cirugía , Fístula Vesicovaginal/congénito , Fístula Vesicovaginal/cirugíaRESUMEN
Hydrometrocolpos, occurring in approximately 1/6000 newborn girls, can be caused by a stenotic urogenital sinus, a severe cloacal malformation, but also by other conditions such as an imperforate hymen, a midline vaginal septum and vaginal atresia. The prenatal differential diagnosis of this wide spectrum of conditions is not easy and requires a multidisciplinary approach with follow-up scans and MRI to access the severity of the condition. A non-consanguineous couple was referred in the first pregnancy at 30 weeks. The father, 30 years of age, of Kaukasian origin, and the mother of Asian origin, 26 years of age. Ultrasound at 30 weeks revealed ambiguous genitalia (with suspicion of clitoral hypertrophy), a septated structure located behind the bladder compatible with hydrometrocolpos with a uterine malformation (uterus didelphys), a single umbilical artery, mild ascites and growth on the tenth centile. The differential diagnosis included a vaginal atresia, a urogenital sinus and a more severe cloacal malformation. After serial scans, MRI and counselling by an experienced surgeon the preferential diagnosis of a cloacal malformation was made and a late pregnancy termination was performed. Pathological examination revealed: low vaginal atresia with uterus didelphys, anal atresia with rectovaginal fistula and a normal urinary tractus. The differential diagnosis between hydrometrocolpos due to vaginal atresia or due to a more severe cloacal malformation is not straightforward. Care should be taken in decision making and counselling patients with these complex prenatal malformations.
Asunto(s)
Anomalías Múltiples/diagnóstico , Ano Imperforado/diagnóstico , Cloaca/anomalías , Enfermedades Fetales/diagnóstico , Cardiopatías Congénitas/diagnóstico , Hidrocolpos/diagnóstico , Polidactilia/diagnóstico , Enfermedades Uterinas/diagnóstico , Enfermedades Vaginales/diagnóstico , Anomalías Múltiples/embriología , Aborto Eugénico/métodos , Adulto , Cloaca/diagnóstico por imagen , Diagnóstico Diferencial , Femenino , Cardiopatías Congénitas/embriología , Humanos , Hidrocolpos/embriología , Polidactilia/embriología , Embarazo , Tercer Trimestre del Embarazo , Ultrasonografía Prenatal/métodos , Enfermedades Uterinas/embriología , Útero/anomalías , Útero/diagnóstico por imagen , Útero/embriología , Vagina/anomalías , Vagina/diagnóstico por imagen , Vagina/embriología , Enfermedades Vaginales/embriologíaRESUMEN
Bcl2-modifying factor (Bmf) is a member of the BH3-only group of proapoptotic proteins. To test the role of Bmf in vivo, we constructed mice with a series of mutated Bmf alleles that disrupt Bmf expression, prevent Bmf phosphorylation by the c-Jun NH(2)-terminal kinase (JNK) on Ser(74), or mimic Bmf phosphorylation on Ser(74). We report that the loss of Bmf causes defects in uterovaginal development, including an imperforate vagina and hydrometrocolpos. We also show that the phosphorylation of Bmf on Ser(74) can contribute to a moderate increase in levels of Bmf activity. Studies of compound mutants with the related gene Bim demonstrated that Bim and Bmf exhibit partially redundant functions in vivo. Thus, developmental ablation of interdigital webbing on mouse paws and normal lymphocyte homeostasis require the cooperative activity of Bim and Bmf.