Chronic inflammation of the bladder as a result of persistent urogenital sinus in girls with a classical form of 21-hydroxylase deficiency

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. We present a case of female patient with classical congenital adrenal hyperplasia, diagnosed on the 7th day of life, with ambiguous genitalia, untreated surgically only with hormone therapy by parental decision. The patient, at the age of 5years and 5months, came to our observation for a pelvic ultrasound, which revealed retrovesical neoformation with anechoic content and regular walls. We performed the ultrasound examination that showed the dilation of the cervix and the vaginal canal with anechoic finely corpuscolated content in the declining portion, compatible with hydrometrocolpos from probable persistence of the urogenital sinus. The voiding cystourethrography (VCUG) confirmed the ultrasound diagnosis, with evidence of urogenital sinus. In conclusion, ultrasound is the first diagnostic tool, but need to be completed by other technical procedures, which VCUG or magnetic resonance imaging to observe the site of fusion of the urinary and genital tract.

Cystourethroscopy versus contrast studies in urogenital sinus and cloacal anomalies in children

TOTAL UROGENITAL SINUS MOBILIZATION: A MODIFIED PERINEAL APPROACH FOR FEMINIZING GENITOPLASTY AND UROGENITAL SINUS REPAIR

Total urogenital sinus mobilization: a modified perineal approach for feminizing genitoplasty and urogenital sinus repair.

Surgical Treatment of High Urogenital Sinuses Using the Anterior Sagittal Transrectal Approach: A Useful Strategy to Optimize Exposure and Outcomes

Objective: Urogenital Sinus is a rare congenital deformity which overture to preclude of normal embryonic vaginal progression. We report a case of urogenital sinus with ambiguous genitalia in a female adult. Case Report: An unmarried young female aged 26 years presented to our hospital with amenorrhea of 6 months and history of urinary incontinence from childhood. The diagnostic features of this case include normal haemogram with mildly elevated blood urea and creatinine, normal 17 ketosteroids, serum testosterone and DHEA; bilateral moderate hydronephrosis with uterus of size 6.8 x 4.6 x 5.3 cm; urogenital sinus with partial separation of bladder and vagina-vaginal type; bilateral hydrouretronephrosis with mild renal cortical scarring and bicornuate unicollis uterus cervix opening into the urogenital sinus. She was diagnosed with persistent urogenital sinus (Vaginal type) without congenital adrenal hyperplasia, but with associated mullerian anomaly. Treatment option was a U-shaped vaginoplasty with an aim of widening vaginal introitus and advancement of hypospadiac external urethral meatus to prevent micturition into vagina. Conclusion: Though the possible treatment options were discussed, this case study emphasizes the need of psycho social rehabilitation for the proper treatment of ambiguous genitalia. DOI: http://dx.doi.org/10.3126/ajms.v6i4.10107 Asian Journal of Medical Sciences Vol.6(4) 2015 89-91

Objective: Urogenital Sinus is a rare congenital deformity which overture to preclude of normal embryonic vaginal progression. We report a case of urogenital sinus with ambiguous genitalia in a female adult. Case Report: An unmarried young female aged 26 years presented to our hospital with amenorrhea of 6 months and history of urinary incontinence from childhood. The diagnostic features of this case include normal haemogram with mildly elevated blood urea and creatinine, normal 17 ketosteroids, serum testosterone and DHEA; bilateral moderate hydronephrosis with uterus of size 6.8 x 4.6 x 5.3 cm; urogenital sinus with partial separation of bladder and vagina-vaginal type; bilateral hydrouretronephrosis with mild renal cortical scarring and bicornuate unicollis uterus cervix opening into the urogenital sinus. She was diagnosed with persistent urogenital sinus (Vaginal type) without congenital adrenal hyperplasia, but with associated mullerian anomaly. Treatment option was a U-shaped vaginoplasty with an aim of widening vaginal introitus and advancement of hypospadiac external urethral meatus to prevent micturition into vagina. Conclusion: Though the possible treatment options were discussed, this case study emphasizes the need of psycho social rehabilitation for the proper treatment of ambiguous genitalia. DOI: http://dx.doi.org/10.3126/ajms.v6i4.10107 Asian Journal of Medical Sciences Vol.6(4) 2015 89-91

Urogenital sinus (UGS) malformation, also known as persistent urogenital sinus (PUGS), is a rare congenital malformation of the urogenital system. It arises when the urethra and vaginal opening fail to form properly in the vulva and fuse incorrectly. PUGS can occur as an isolated abnormality or as part of a complex syndrome, and is frequently associated with congenital adrenal hyperplasia (CAH). The management of PUGS is not well-established, and there are no standardized guidelines on when to perform surgery or how to follow up with patients over the long term. In this review, we discuss the embryonic development, clinical evaluation, diagnosis, and management of PUGS. We also review case reports and research findings to explore best practices for surgery and follow-up care, in hopes of increasing awareness of PUGS and improving patient outcomes.

Bladder After Total Urogenital Mobilization for Congenital Adrenal Hyperplasia and Cloaca—Does it Behave the Same?

Persistent urogenital sinus in siblings due to a maternal adrenal neoplasm: A case report

The Perineal Approach for Urogenital Sinus (UGS) Mobilization

Objective To evaluate the outcomes of urogenital sinus mobilization (UGSM) for congenital adrenal hyperplasia (CAH). Methods From September 2008 to July 2014, 13 cases of CAH underwent cliteroplasty and UGSM in one stage.They were divided into two groups of partial urogenital mobilization (PUM) and total urogenital mobilization (TUM). Their perioperative conditions were assessed.And postoperative postoperative lower urinary tract symptoms (LUTS) were evaluated by DAN-PSS scale and postoperative perineal appearance was graded by improved rating scale. Results The procedures of PUM (n=8) and TUM (n=5) were performed.The median operative age was 3.2 years for PUM versus 5.9 years for TUM, median length of common channel 1.1 cm for PUM versus 3.0 cm for TUM, median operative duration 180 min for PUM versus 200 min for TUM, median follow-up time 42 months for PUM versus 50 months for TUM.In PUM group, 2 cases presented obvious LUTS.One had frequent enuresis and another urinary incontinence.In TUM group, 3 cases presented obvious LUTS, there were moderate incomplete emptying (n=1), enuresis (n=1) and urinary incontinence (n=1). LUTS and perineal appearance had no inter-group difference.All cases had excellent postoperative urinary continence.The cosmetic outcomes were satisfactory (n=4), average (n=6) and unsatisfactory (n=3). Six cases of poor vaginal exposure were recommended for re-operation. Conclusions As an ideal treatment for female CAH, UGSM may be completed in one stage with cliteroplasty.Overall preoperative assessment of urogenital sinus status yields excellent cosmetics and functional outcomes. Key words: Congenital adrenal cortical hyperplasia; Urogenital sinus; Perineum

BACKGROUND AND OBJECTIVESDisorders of sex development (DSDs), formerly termed ambiguous genitalia, are a group of conditions where the external genitalia appear abnormal. It represents a true medical and social emergency that needs a multidisciplinary team approach for elucidation. The pediatric radiologist plays an important role in defining the genital anatomy that remains one of the most important factors in sex determination, in addition to chromosomal analysis.DESIGN AND SETTINGSA retrospective study, conducted between January 1995 and December 2010.MATERIALS AND METHODSImaging studies (ultrasound, genitogram, and/or magnetic resonance imaging) were performed in patients with ambiguous genitalia, confirmed by chromosomal analysis and appropriate hormonal investigations.RESULTSThe sensitivity of ultrasound is 89.5%, while its specificity reaches 100%. Retrograde genitogram is more invasive and less sensitive, as the yield of determining the presence of a uterus ± vagina is 84.2%. However, magnetic resonance imaging (MRI) is more sensitive for gonadal tissue identification. Its specificity reaches up to 100% and can provide detailed internal structures (uterus, fallopian tubes, and gonads).CONCLUSIONUltrasound examination is still the main modality of choice for screening patients with ambiguous genitalia. It is cheap and readily available everywhere. In addition to elucidating the uterus in 89.5%, it can also give more information on the adrenal glands. However, genitography is good—84.2% in elucidating genital anatomy—but it gives no information of the gonads and it is time consuming and invasive. MRI is helpful in cases with equivocal ultrasound, reaches 100% in elucidating internal extractor, and therefore could be reserved for that.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders causing an impairment of cortisol biosynthesis. The phenotypic expression of different CAH forms depends on the underlying enzymatic defect. Steroid 21‐hydroxylase (CYP21A2) and 11β‐hydroxylase (CYP11B1) deficiencies only affect adrenal steroidogenesis, whereas 17α‐hydroxylase (CYP17A1) and 3β‐hydroxysteroid dehydrogenase type 2 (HSD3B2) also impair gonadal steroid biosynthesis. P450 oxidoreductase deficiency (PORD) manifests with apparent combined CYP17A1–CYP21A2 deficiency. In contrast to other CAH forms, PORD also causes skeletal malformations and genital ambiguity in both sexes. Three additional enzymatic defects have been traditionally classified as CAH. Steroidogenic acute regulatory protein (StAR) deficiency results in congenital lipoid adrenal hyperplasia (CLAH), and has the unique feature of adrenal and gonadal lipid accumulation. P450 side‐chain cleavage (CYP11A1) deficiency resembles the CLAH phenotype, but patients have normal‐sized or absent adrenals. Aldosterone synthase (CYP11B2) deficiency manifests with isolated aldosterone deficiency and normal cortisol synthesis. Key Concepts: Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders and comprises a group of autosomal recessive conditions. Molecular genetic analysis of the CYP21A2 gene is challenging due to a high rate of conversions and a multitude of possible complex rearrangements. Common mutations in CYP21A2 account for the majority of cases including gene deletions, chimeric genes, seven single point mutations, an eight base‐pair deletions and a cluster of point mutations. CYP21A2 gene duplications have to be considered in carriers of the p.Gln318X mutation to provide the correct molecular genetic diagnosis. Other forms of CAH are less often caused by common mutations, which are only found in specific populations. The genotype correlates overall well with the adrenal phenotype in all CAH forms, CLAH, CYP11A1 and CYP11B2 deficiencies. Although a trend exists, correlation between genotype and genital development is weaker, and it is particularly poor in CYP11A1 or 3β‐hydroxysteroid dehydrogenase type 2 deficiencies. Mutations in POR and CYP17A1 genes can be associated with clinically isolated 17,20‐lyase deficiency. CYP11A1 deficiency and CLAH due to StAR deficiency can manifest with a phenotype resembling familial glucocorticoid deficiency. Molecular genetic diagnosis is essential to provide the correct diagnosis and allow for appropriate clinical and genetic counselling.

Introductionpersistent urogenital sinus (PUGS) is a rare condition characterized by abnormal communication between the urethra and vagina, that can frequently be associated with other complex Mullerian malformation (33%). We present a case of PUGS associated with a complex Mullerian malformation diagnosed in adult age after the integration of gynecological ultrasound with hysteroscopy, both performed by expert operators.Case description27-year-old women was referred to our clinic because of frequent urinary tract infections and cyclic pelvic pain. She was virgo, with normal menstrual cycles and dysmenorrhea. A didelphys uterus and double vagina with bilateral hematocolpos was firstly diagnosed through transrectal and transabdominal ultrasound. An MRI was then performed and a monorenal and ipsilateral ureteral malformation were diagnosed; in addition, a complete absence of the lower third of the vagina and an abnormal origin of the urethra from the bladder were described. Patient underwent lower genital tract endoscopy: external vaginal orifice was obliterated, a PUGS was diagnosed and both vaginas' ostia were detected on the PUGS's posterior-lateral walls. The procedure was performed under transabdominal ultrasound guidance which confirmed the endoscopic anatomical suspicion, avoiding complications such as perforation and misdiagnosis.Discussionultrasound guided endoscopy plays an essential role in the evaluation of complex anatomic anomalies, such as persistent urogenital sinus (PUGS), leading to a dynamic one-stop diagnosis; it avoids delays and misdiagnosis in preoperative assessment possibly related to the separately application of different radiological and endoscopic techniques.