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      A rare case of persistent urogenital sinus in an adult woman associated with unilateral rudimentary horn with ipsilateral renal agenesis and contralateral dermoid cyst

      case-report

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          Abstract

          Abstract Persistent urogenital sinus (PUGS) is an uncommon developmental cloacal anomaly, with Incidence of 0.6 in 10000 female births. Herein we depict the case of a 22-year of age lady who presented with Infertility for 16 months with dyspareunia and was found to have Persistent urogenital sinus associated with other urogenital anomalies as unilateral rudimentary horn with ipsilateral renal agenesis and contralateral dermoid cyst. The patient was successfully treated with the excision of the sinus, the rudimentary horn and the dermoid cyst.

          Translated abstract

          Resumen El seno urogenital persistente (PUGS) es una anomalía cloacal del desarrollo poco común, con una incidencia de 0,6 en 10000 nacimientos de mujeres. Aquí representamos el caso de una señora de 22 años que presentó Infertilidad durante 16 meses con dispareunia y se encontró que tenía seno urogenital persistente asociado con otras anomalías urogenitales como cuerno rudimentario unilateral con agenesia renal ipsilateral y quiste dermoide contralateral. El paciente fue tratado con éxito con la escisión del seno, el cuerno rudimentario y el quiste dermoide.

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          Most cited references11

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          Fibroblast growth factor receptor 2-IIIb acts upstream of Shh and Fgf4 and is required for limb bud maintenance but not for the induction of Fgf8, Fgf10, Msx1, or Bmp4.

          Mice deficient for FgfR2-IIIb were generated by placing translational stop codons and an IRES-LacZ cassette into exon IIIb of FgfR2. Expression of the alternatively spliced receptor isoform, FgfR2-IIIc, was not affected in mice deficient for the IIIb isoform. FgfR2-IIIb(-/-) (lac)(Z) mice survive to term but show dysgenesis of the kidneys, salivary glands, adrenal glands, thymus, pancreas, skin, otic vesicles, glandular stomach, and hair follicles, and agenesis of the lungs, anterior pituitary, thyroid, teeth, and limbs. Detailed analysis of limb development revealed an essential role for FgfR2-IIIb in maintaining the AER. Its absence did not prevent expression of Fgf8, Fgf10, Bmp4, and Msx1, but did prevent induction of Shh and Fgf4, indicating that they are downstream targets of FgfR2-IIIb activation. In the absence of FgfR2-IIIb, extensive apoptosis of the limb bud ectoderm and mesenchyme occurs between E10 and E10.5, providing evidence that Fgfs act primarily as survival factors. We propose that FgfR2-IIIb is not required for limb bud initiation, but is essential for its maintenance and growth.
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            The Surgical Correction of Urogenital Sinus in Patients with DSD: 15 Years after Description of Total Urogenital Mobilization in Children

            Total urogenital sinus mobilization has been applied to the surgical correction of virilized females and has mostly replaced older techniques. Concerns have been raised about the effect of this operation on urinary continence. Here we review the literature on this topic since the description of the technique 15 years ago. Technical aspects and correct nomenclature are discussed. We emphasize that the term “total” refers to an en-bloc dissection and not to the extent of the proximal dissection. No cases of urinary incontinence have been reported following this operation. It is yet too early to evaluate results regarding sexual function but it is likely that the use of a posterior skin flap to augment the introitus will minimize the development of introital stenosis.
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              The surgical treatment of cloaca.

              Similar to other anorectal malformations, cloaca also represents a spectrum of defects that goes from "benign" cloaca with a good functional prognosis that can be repaired with a relatively simple surgical technique, to very complex malformations with many anatomic variations that require different surgical maneuvers to be able to successfully reconstruct those patients. The group of patients born with a "benign" type of cloaca will have bowel and urinary control, will become sexually active and may get pregnant and deliver by cesarean section. All this is possible, provided the malformation is repaired with a meticulous and delicate technique. Fortunately this represents more than 50% of all cloacas. Our belief is that the surgical technique to repair this group of defects is reproducible and can be taught to pediatric surgical trainees. On the other hand, complex cloaca with a common channel longer than 3 cm should be repaired by surgeons fully dedicated to repair these malformations. The experience reported in this paper is based on 570 patients with cloaca operated by Dr. Alberto Peña and the author in the last 8 years.
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                Author and article information

                Journal
                ijm
                Iberoamerican Journal of Medicine
                Iberoam J Med
                Hospital San Pedro (Logroño, La Rioja, Spain )
                2695-5075
                2695-5075
                2021
                : 3
                : 3
                : 280-283
                Affiliations
                [1] Cairo Cairo orgnameAin Shams University orgdiv1Department of Obstetrics and Gynecology Egypt
                Article
                S2695-50752021000300016 S2695-5075(21)00300300016
                10.5281/zenodo.4756731
                d9ad9d14-57fb-40da-874b-c50e8c905802

                This work is licensed under a Creative Commons Attribution 4.0 International License.

                History
                : 29 April 2021
                : 02 June 2021
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 11, Pages: 4
                Product

                SciELO Spain

                Categories
                Case Report

                Urogenital sinus,Renal agenesis,Rudimentary horn,Cuerno rudimentario,Agenesia renal,Seno urogenital

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