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Urogenital sinus syndrome

Marjan Waterloos, Tom Claeys, Maxime Sempels, Erik Van Laecke, Piet Hoebeke, Anne-Françoise Spinoit
The adrenogenital syndrome is an autosomal recessive disorder in which an enzyme defect in the steroid pathway leads to excessive prenatal exposure of androgens. In the female fetus, masculinization of the external genitalia is observed. Surgery aims for functional and aesthetical reconstruction. Many techniques have been described. A video of our modified pull-through reconstruction technique is hereby presented. A retrospective descriptive database was created with patients who underwent genitoplasty for a CAH-associated genital condition...
March 8, 2018: Journal of Pediatric Urology
Igino Simonetti, Piero Trovato, Francesco Verde, Luca Tarotto, Roberto Della Casa, Maria Concetta Lonardo, Gianfranco Vallone, Maria Grazia Caprio
Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has an estimated incidence of 0.6/10,000 female births. It could be the only known malformation or part of a syndrome. PUGS is commonly shown by a pelvic mass, related to a distended bladder, hydrometrocolpos which is due to an obstruction leading to the dilation of the vagina and uterus (i.e., imperforate hymen, transverse vaginal septum or atresia, and PUGS) or both...
March 3, 2018: Journal of Ultrasound
Marcella Pellegrino, Daniela Visconti, Vincenzo Davide Catania, Luisa D'Oria, Carlo Manzoni, Maria Giovanna Grella, Alessandro Caruso, Lucia Masini, Giuseppe Noia
INTRODUCTION: Megacystis is a condition of abnormal enlarged fetal bladder for gestational age, which is usually associated with urological malformations that may constitute a life-threatening condition for the baby. OBJECTIVE: The purpose of this study was to assess the prognostic and etiological criteria of fetal megacystis and to describe the neonatal outcome in a large series collected in a single tertiary center. STUDY DESIGN: A retrospective observational study was conducted between 2008 and 2012...
October 2017: Journal of Pediatric Urology
Faruk H Orge, Suhail A Dar, Christie N Blackburn, Sarah J Grimes-Hodges, Anna L Mitchell
PURPOSE: To report the newest ophthalmic manifestations of a mother-daughter pair diagnosed with toe syndactyly, telecanthus, anogenital and renal malformations (STAR) syndrome, a rare X-linked developmental disorder. METHODS: The medical and ophthalmic records were reviewed for a mother-daughter pair diagnosed with FAM58A confirmed STAR syndrome on chromosome Xq28. RESULTS: The mother at birth had left foot syndactyly, telecanthus, anal stenosis, and clitoromegaly and was told at 19 she had a hypoplastic left kidney...
September 2016: Ophthalmic Genetics
Joshua Blake, Di Hu, Jason E Cain, Norman D Rosenblum
Pallister-Hall syndrome (PHS) is a rare disorder caused by mutations in GLI3 that produce a transcriptional repressor (GLI3R). Individuals with PHS present with a variably penetrant variety of urogenital system malformations, including renal aplasia or hypoplasia, hydroureter, hydronephrosis or a common urogenital sinus. The embryologic mechanisms controlled by GLI3R that result in these pathologic phenotypes are undefined. We demonstrate that germline expression of GLI3R causes renal hypoplasia, associated with decreased nephron number, and hydroureter and hydronephrosis, caused by blind-ending ureters...
February 1, 2016: Human Molecular Genetics
Pedro Acién, Maribel Acién
BACKGROUND: Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is essential to avoid inappropriate and/or unnecessary surgery. Therefore, acquiring and applying the appropriate embryological knowledge, management and therapy is a challenge for gynaecologists...
January 2016: Human Reproduction Update
Anna Lia Valentini, Michela Giuliani, Benedetta Gui, Maria Elena Laino, Viola Zecchi, Elena Rodolfino, Valeria Ninivaggi, Carlo Manzoni, Lorenzo Bonomo
BACKGROUND: Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina. It may be a part of a complex syndrome and can be more often associated with congenital malformations affecting the genitourinary tract system (33%) such as intersex, rectovaginal communication, bladder agenesis, absence of vagina, and hydrocolpos. The correct radiological assessment of PUGS is especially useful for clinicians since the exact anatomical evaluation of this abnormality is a crucial factor for surgical planning...
April 2016: American Journal of Perinatology
Algirdas Zalimas, Gintas Posiunas, Sigitas Strupas, Ramunas Raugalas, Juozas Raistenskis, Gilvydas Verkauskas
BACKGROUND: PELVIS is an acronym defining the association of perineal hemangioma, malformations of external genitalia, lipomyelomeningocele, vesicorenal abnormalities, imperforate anus and skin tag. Eleven cases have been reported according to the Orphanet data. Acronyms of LUMBAR and SACRAL syndrome have been used and most probably represent a spectrum of the same entity. Very little is known about the success and timing of cloacal reconstruction after the treatment of hemangioma. We present a variant of PELVIS syndrome and discuss the possibilities and optimal timing of surgical reconstruction...
October 8, 2015: BMC Pediatrics
Sundeep Kisku, Lilly Varghese, Aruna Kekre, Sudipta Sen, Sampath Karl, John Mathai, Reju Joseph Thomas, Ravi Kishore
INTRODUCTION AND HYPOTHESIS: Absence of a vagina owing to congenital Mullerian defects or other acquired causes requires reconstruction of the female genital passage. We present our experience using various bowel segments. METHODS: Bowel vaginoplasty was performed in 55 patients from January 2004 through May 2014 for cervicovaginal atresia (20), Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (20), distal vaginal atresia (8), cloaca (2), cervical atresia (1), complex urogenital sinus (1), transverse vaginal septum (1), rhabdomyosarcoma of the vagina (1), and traumatic stricture of the vagina (1)...
October 2015: International Urogynecology Journal
Erin T Lueth, Kelly E Wood
BACKGROUND: McKusick Kaufman Syndrome (MKS), a rare genetic condition, presents in the neonatal period with a classic triad of postaxial polydactyly, congenital heart disease, and hydrometrocolpos. The diagnosis is typically clinical, based on the presence of polydactyly and hydrometrocolpos. CASE: We report the case of a 13-year-old female, who was diagnosed with MKS in infancy and underwent vaginal reconstructive surgery for a urogenital sinus. She was lost to follow-up thereafter...
December 2014: Journal of Pediatric and Adolescent Gynecology
Boris Chertin, Wael Abu Arafeh, Stanislav Kocherov
PURPOSE: We aimed to evaluate prospectively the efficacy of Vantris as a new non-biodegradable tissue-augmenting substance in children with complex cases of VUR. MATERIALS AND METHODS: Over the last 4 years, 37 children (28 female and 9 male) with a mean age of 5.8 ± 3.1 years (mean ± SD) underwent endoscopic correction of complex VUR. A total of 38 renal refluxing units (RRU) was treated as 5 had persistent reflux after open surgery, 16 had duplication, 4 had Hutch diverticulum, 6 had small poorly functioning kidneys (less than 20% of relative renal function) with grade V VUR, 2 had ureterocele after puncture, 3 had persistent stump reflux, 1 had prune belly syndrome, and 1 had urogenital sinus...
April 2014: Pediatric Surgery International
Hey-Joo Kang, Julianne Imperato-McGinley, Yuan-Shan Zhu, Zev Rosenwaks
A most interesting and intriguing male disorder of sexual differentiation is due to 5α-reductase-2 isoenzyme deficiency. These male infants are born with ambiguous external genitalia due to a deficiency in their ability to catalyze the conversion of T to dihydrotestosterone. Dihydrotestosterone is a potent androgen responsible for differentiation of the urogenital sinus and genital tubercle into the external genitalia, urethra, and prostate. Affected males are born with a clitoral-like phallus, bifid scrotum, hypospadias, blind shallow vaginal pouch from incomplete closure of the urogenital sinus, and a rudimentary prostate...
February 2014: Fertility and Sterility
J Kaprova-Pleskacova, M Snajderova, J Stoop, M Koudova, E Kocarek, D Novotna, S L S Drop, B Obermannova, J Lebl, J W Oosterhuis, L H J Looijenga
A child born with ambiguous genitalia (Prader III) was found to have a 45,X[92.2%]/46,X,psu dic(Y)(p12)[7.8%] karyotype in peripheral blood lymphocytes. The testosterone level was consistent with that of a normal male; however, gonadotropins were elevated. Ultrasound and endoscopy of the urogenital sinus revealed well-developed Müllerian structures. At 3.5 months, the child was operated for right-sided incarcerated hernia, and the gonad situated at the inguinal region was biopsied and classified as primitive testis...
2013: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Irene Ma, Amy Williamson, Dorothy Rowe, Michael Ritchey, Kathleen Graziano
BACKGROUND: OHVIRA syndrome is a rare diagnosis involving the triad of obstructed hemivagina, uterine anomaly, and ipsilateral renal anomaly. OHVIRA syndrome can be associated with other anomalies due to abnormal embryologic development of the urogenital system. CASES: A 14-year-old female with known left renal agenesis, long-standing urinary incontinence, and history of recurrent urinary tract infections presented with abdominal distention. A 4-year-old female with known right renal agenesis and urinary incontinence was found to have a single common channel at the introitus that communicated with the bladder and a hemivagina on the left...
April 2014: Journal of Pediatric and Adolescent Gynecology
Elizabeth McPherson, Christopher Cold
No abstract text is available yet for this article.
October 2013: American Journal of Medical Genetics. Part A
Nandini K Bedi, Dhruv Grover
This is a case report of Bardet-Biedl syndrome with a urogenital sinus and an ectopic right ureter presenting with acute renal failure in the neonatal period in a female baby. Acute renal failure in these patients is commonly known to occur around 5-7 y of age and neonatal presentation is extremely rare.
July 2014: Indian Journal of Pediatrics
V Piloni, P Tosi, M Vernelli
BACKGROUND: The aim of this study was to evaluate the use of a magnetic resonance (MR)-based classification system of obstructive defecation syndrome (ODS) to guide physicians in patient management. METHODS: The medical records and imaging series of 105 consecutive patients (90 female, 15 male, aged 21-78 years, mean age 46.1 ± 5.1 years) referred to our center between April 2011 and January 2012 for symptoms of ODS were retrospectively examined. After history taking and a complete clinical examination, patients underwent MR imaging according to a standard protocol using a 0...
October 2013: Techniques in Coloproctology
Howard M Snyder
The female child with the adrenogenital syndrome is subject to a variable degree of masculinization. Surgery should be directed to 3 goals: (1) removing the corpora and preserving the glans with its innervation to create a clitoris with normal sensation, (2) creating a normal-appearing introitus by fashioning labia minora from phallic skin and foreskin, and (3) vaginoplasty to provide an adequate opening for the vagina onto the perineum. The entire repair may be completed before the age of 6 months unless the vagina enters the urogenital sinus at the high level, in which case vaginoplasty may be delayed until the child is older...
January 2013: Journal of Craniofacial Surgery
A Serra, K Eirich, A K Winkler, K Mrasek, G Göhring, G Barbi, H Cario, B Schlegelberger, B Pokora, T Liehr, C Leriche, D Henne-Bruns, T F Barth, D Schindler
Concurrent emergence of nephroblastoma (Wilms Tumor; WT) and neuroblastoma (NB) is rare and mostly observed in patients with severe subtypes of Fanconi anemia (FA) with or without VACTER-L association (VL). We investigated the hypothesis that early consequences of genomic instability result in shared regions with copy number variation in different precursor cells that originate distinct embryonal tumors. We observed a newborn girl with FA and VL (aplasia of the thumbs, cloacal atresia (urogenital sinus), tethered cord at L3/L4, muscular ventricular septum defect, and horseshoe-kidney with a single ureter) who simultaneously acquired an epithelial-type WT in the left portion of the kidney and a poorly differentiated adrenal NB in infancy...
September 2012: Molecular Syndromology
Intezar Ahmed, Shiv Narain Kureel, Naveen Chandra
Reverse (posterior) cloaca is itself a rare entity and association of this defect with other congenital syndromes or defects is extremely rare to find. To diagnose this unique anomaly one should be aware about this very infrequently encountered clinical entity. Reverse cloaca is a very rare variant of anorectal malformation in which urethra and vagina fused to form a urogenital sinus that diverts posteriorly and opens in the anterior rectal wall at the anus or immediately anterior to it. We report a neonate with the rare clinical entity of reverse cloaca type C, pseudophallus with rudimentary urethra as a component of female pseudohermaphrodism and congenital rectal stenosis...
November 26, 2010: BMJ Case Reports
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