Figure 2
A. Lateral genitography showing the vaginal depth (red line, labelled X) and the urethral length (blue line, labelled Y); B. External virilization (Prader III) in the same patient.
Source publication
Background
Virilized females due to congenital adrenal hyperplasia represent the most common form of female disorders of sexual development. The anomaly therein is an external virilization to resemble male genitalia and a persistent urogenital sinus.
Objectives
To study the anatomical details of the virilized female cases operated upon between 2...
Citations
... All patients with persistent urogenital sinus had a contrast genitogram performed using Omnipaque ® under fluoroscopy guidance, the same technique used in our centre in a previous study [14]. We used the measurements that were described and illustrated in other studies [14][15][16]. ...
... All patients with persistent urogenital sinus had a contrast genitogram performed using Omnipaque ® under fluoroscopy guidance, the same technique used in our centre in a previous study [14]. We used the measurements that were described and illustrated in other studies [14][15][16]. Patients were generally anesthetised either in the same setting of surgery or preoperatively in a different setting. A radio-opaque marker of known dimensions was placed at the perineum about 2-2.5 cm anterior to the limit of the anal verge. ...
... The radiological assessment of persistent UGS is of the utmost importance before any attempt at reconstructive surgery for this challenging condition [14]. We chose to study the genitography and the cystourethroscopy in the preoperative evaluation of CAH cases with persistent UGS because they are widely used. ...
Background
Congenital adrenal hyperplasia (CAH) is a common cause of urogenital sinus (UGS) anomalies. Delineating the abnormal anatomy of the UGS is crucial prior to the operative repair. Genitography and cystourethroscopy are commonly used by most surgeons to plan for reconstruction. We aim at this study to evaluate the role of these modalities and to compare their accuracy in delineating the abnormal anatomy.
Methods
We did a prospective study of 30 female paediatric patients with persistent UGS secondary to CAH. All cases were evaluated with genitography and cystourethroscopy. We compared the accuracy of each modality in delineating the confluence. The confluence depth, the urethral length proximal to the confluence, the vaginal dimensions, and the depth of the bladder neck were measured in the genitograms.
Results
Cystourethroscopy showed the abnormal anatomy in all 30 cases (100%). The genitogram showed the site of confluence in 24 cases out of 30 cases (80%). According to the site of the vaginal opening in relation to the external urethral sphincter in the genitogram, we had 2 groups: the low confluence group ( N = 14) and the high confluence group ( N = 16). The mean confluence depth in the low group was 9.8 mm vs. 20.5 mm in the high group ( p -value < 0.001). To find a cutoff point to differentiate low from high groups, we used the values that resulted from dividing the length of the urethra proximal to the confluence over the depth of the bladder neck. By using the ROC curve, the cutoff point was 0.63 mm (< 0.63 mm high, > / = 0.63 mm low) ( p -value < .001).
Conclusion
We recommend using both cystourethroscopy and genitography for preoperative evaluation. Cystourethroscopy is superior in identifying the abnormal anatomy, but it lacks precision in taking measurements. Genitography can avoid this drawback and can precisely measure the confluence depth, vaginal dimensions, and length of the proximal urethra. We suggest using this formula (length of the urethra proximal to the confluence/depth of bladder neck) to classify persistent UGS as low (> / = 0.63 mm) and high (< 0.63 mm).
... Furthermore, Camanni et al. followed six girls with CAH who underwent TUM correction and found no instances of bladder dysfunction or incontinence [36]. A review of the urology literature highlighted the importance of urethral length in decision-making and surgical planning for the repair of a urogenital sinus, with or without congenital adrenal hyperplasia [37,38]. Improved patient selection for TUM based on urethral length could potentially reduce urological morbidity [39]. ...
Purpose
To present our surgical experience and outcomes in congenital adrenal hyperplasia (CAH) patients with severe virilization using a combined technique of total urogenital mobilization (TUM) and a modified pull-through vaginoplasty to perform a safe and effective one-stage feminizing genital reconstruction for these children.
Methods
Fourteen CAH patients with severe virilization, defined by a Prader IV and V rating of the external genitalia, underwent TUM followed by a limited vaginal pull-through procedure from June 2016 to December 2020. Postoperative anatomical and cosmetic outcomes, and urinary continence, were evaluated.
Results
Out of the 14 cases in this study, 8 were classified as prader IV and 6 as Prader V. The median age at surgery was 11 months (range 6–36 months), and the mean urethral length was 1.4 cm (range 1.2–1.8 cm). The median follow-up period was 4 years. Our cosmetic outcomes were good in 11 (78.5%), satisfactory in 2, and poor in one case. All patients achieved age-appropriate toilet training without urinary incontinence.
Conclusion
Adopting our surgical approach of TUM with modified pull-through vaginoplasty has simplified feminizing surgical reconstruction in CAH cases with severe genital atypia and a very high vaginal confluence with short urethral length, yielding adequate introitus with good anatomical and cosmetic appearance and adequate urinary continence outcomes.
... The "pull-through" method is suitable for very high confluence. Studies have shown that in 90% of cases (1-3 years old), this depth is < 20 mm, so PUM may be appropriate in most cases (68). Second, regarding the length of the common channel, Tugtepe et al. (69) recommended using PUM for patients with less than 2 cm and TUM for patients with a length of 2.5 to 3.5 cm. ...
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.
... A total of 29 records (38.7%) included medical photographs of the patient's body or body parts. In most cases, they were close-ups of genitals-mainly from infants or children (AbouZeid & Mohammad, 2020; Barham et al., 2016;Baskin, 2017;Deeb et al., 2016;Fadil Iturralde et al., 2020;Goncalves et al., 2019;Heo et al., 2018;Jayanthi et al., 2017;Jesus et al., 2018;Kearsey & Hutson, 2017;Marei et al., 2016;Matsumoto et al., 2017;Morozumi et al., 2018;Nasir et al., 2019;Ochi et al., 2019;Saikia et al., 2019;Şimşek et al., 2016;Sperling & Meyer, 2017;Wagner-Mahler et al., 2019), but in a few cases also of adolescents (Chouhan et al., 2017;Hunter et al., 2016;Tambo et al., 2016) and adults (Larios García & Bautista Delgado, 2016;Patil et al., 2019;Singh et al., 2016). Three papers also contained images of breasts (Singh et al., 2016) and/or fully body shots (Khare et al., 2017;Mirshahvalad et al., 2018) of adolescents whose eyes were obscured with a black line. ...
... Only 2 papers (Marei et al., 2016;Baskin, 2017) included illustrations or socalled schematic representation of respectively (1) vaginal depth; and (2) the anatomy of a female with CAH. ...
... In some papers (AbouZeid & Mohammad, 2020;Caputo et al., 2019;Chouhan et al., 2017;Heo et al., 2018;Hernández et al., 2016;Hertweck & Rothstein, 2019;Larios García & Bautista Delgado, 2016;Marei et al., 2016;Miller, 2019;Poyrazoglu et al., 2017;Pranckėnienė et al., 2019;Rich et al., 2016;Teasdale & Morton, 2017;Wu et al., 2017) normal was also employed to designate more abstract concepts (e.g. normal quality of life, normal sexual life, normal sex satisfaction), periods of the human life span (e.g. ...
The aim of the study is to encourage a critical debate on the use of normality in the medical literature on DSD or intersex. For this purpose, a scoping review was conducted to identify and map the various ways in which “normal” is used in the medical literature on DSD between 2016 and 2020. We identified 75 studies, many of which were case studies highlighting rare cases of DSD, others, mainly retrospective observational studies, focused on improving diagnosis or treatment. The most common use of the adjective normal was in association with phenotypic sex. Overall, appearance was the most commonly cited criteria to evaluate the normality of sex organs. More than 1/3 of the studies included also medical photographs of sex organs. This persistent use of normality in reference to phenotypic sex
is worrisome given the long-term medicalization of intersex bodies in the name of a “normal” appearance or leading a “normal” life. Healthcare professionals should be more careful about the ethical implications of using photographs in publications given that many intersex persons describe their experience with medical photography as dehumanizing.
... Уровень уретровагинального слияния (УВС) является важным критерием в выборе тактики хирургической пластики входа во влагалище у пациенток с урогенитальным синусом (УГС). Частота высокого УВС среди всех его форм составляет 5-10 %, и, по мнению большинства авторов, эта форма считается наиболее тяжелой для хирургической коррекции [1][2][3], о чем свидетельствует высокий процент осложнений -30-100 % [4]. При этом в литературе существуют единичные работы, посвященные исследованиям высоты УВС у пациенток пубертатного возраста [5]. ...
... При этом в литературе существуют единичные работы, посвященные исследованиям высоты УВС у пациенток пубертатного возраста [5]. Наиболее точными методами его диагностики являются такие инвазивные методы, как синусоцистоуретровагиноскопия (СЦУВС) [3,4] и комплексное обследование мочеполовых путей [6]. Данные о неинвазивной диагностике УВС в пубертатном возрасте в литературе отсутствуют. ...
... Интересное исследование с точки зрения классификации высоты УВС было представлено другими египетскими учеными в 2016 г. [3]. Были сопоставлены размеры уретры, общего мочеполового канала и глубина залегания УВС, измеренные эндоскопически и при помощи рентгеноконтрастного исследования. ...
Background. The level of urethrovaginal fusion (UVF) is an important criterion in choosing the tactics of surgical vaginoplasty in patients with urogenital sinus (UGS). The frequency of high UVR among all its forms is 5–10 % and considered the most difficult for surgical correction. There are few publications devoted to studies of the level of UVF in patients at puberty.
Aim. To find a non-invasive method for diagnosing high UVF in patients at puberty with UGS.
Materials and methods. In order to find a non-invasive method for diagnosing high UVF in this group of patients, we conducted a study based on a comparative assessment of endoscopic findings and data of magnetic resonance imaging (MRI). The study included 36 patients with UGS aged 12 to 34 years (average age 17 ± 5 years) who underwent surgical treatment at the National Medical Research Center of Endocrinology of the Ministry of Health of Russia from 2019 to 2022, including patients with congenital adrenal hyperplasia salt-wasting form ( n = 24), viril form ( n = 8), partial 46,XY gonadal dysgenesis ( n = 2), mixed 45,X0/46,XY gonadal dysgenesis ( n = 1), and partial androgen insensitivity syndrome ( n = 1). All patients sequentially underwent MRI of the pelvis and endoscopy of the lower urinary tract with a time gap of 1 to 62 days.
Results. We confirmed that high UVF in patients with UGS during puberty can be diagnosed in a non-invasive way, by pelvic MRI study. The length of the urethra of 22 mm or less corresponds to a high level of UVF, and the depth of UVF less than 32 mm practically excludes it.
Conclusion. The method allows to clarify the severity of UGS in advance, before surgery, to determine the tactics of vaginoplasty and the risk of its complications, and to provide the patient and his relatives with more detailed information to obtain consent for the operation.
... Twelve guidelines and general care recommendations were identified [7,8,13,[20][21][22][23][24][25][26][27][28]. Moreover, articles with a special focus on the somatic, biochemical, and genetic assessment, as well as on imaging and psychosocial care in children with a suspected DSD diagnosis, were selected [29][30][31][32][33][34][35][36][37][38][39][40][41][42]. ...
Background:
Current recommendations define a structured diagnostic process, transparent information, and psychosocial support by a specialized, multi-professional team as central in the care for children and adolescents with genital variations and a suspected difference of sex development (DSD). The active involvement of the child and their parents in shared decision-making should result in an individualized care plan. So far, this process has not been standardized.
Methods:
Within the Empower-DSD study, a team of professionals and representatives of patient advocacy groups developed a new diagnostic and information management program based on current recommendations and existing patient information.
Results:
The information management defines and standardizes generic care elements for the first weeks after a suspected DSD diagnosis. Three different tools were developed: a guideline for the specialized multiprofessional team, a personal health record and information kit for the child with DSD and their family, and a booklet for medical staff not specialized in DSD.
Conclusions:
The new information management offers guidance for patients and professionals during the first weeks after a DSD diagnosis is suspected. The developed tools' evaluation will provide further insight into the diagnostic and information-sharing process as well as into all of the involved stakeholders' needs.
... Thorough review of literature reveals that the preoperative measurement of the urethral length is essential for deciding the surgical plan while reconstructing the urogenital sinus associated with or without congenital adrenal hyperplasia. [10][11][12] The length of the upper urethra depends on the vagina entering above or below external urethral sphincter and is an important factor in the categorization suggested by Rink and colleagues. 13 This should be the main determinant of the complexity of surgical intervention and outcomes of the patients, 11 because the upper urethra is a richly innervated structure surrounded completely by circumferential innervations; therefore, authors are advocating against the dis-ruption of the high periurethral area. ...
... [10][11][12] The length of the upper urethra depends on the vagina entering above or below external urethral sphincter and is an important factor in the categorization suggested by Rink and colleagues. 13 This should be the main determinant of the complexity of surgical intervention and outcomes of the patients, 11 because the upper urethra is a richly innervated structure surrounded completely by circumferential innervations; therefore, authors are advocating against the dis-ruption of the high periurethral area. The mobilization of the pubourethral ligament during TUM could negatively impact continence postoperatively. ...
... The mobilization of the pubourethral ligament during TUM could negatively impact continence postoperatively. 11 Given the high incidence of incontinence associated with TUM, more patients will undergo TUS hence need to master more feasible laparoscopic approach to this technique. The mainstay of urethral measurement in our study was cystoscopy, although other modalities such as MRI and genitography have been used effectively. ...
Background and Aims
Before the significance of urethral length was highlighted in patients with cloacal malformation, total urogenital mobilization using a posterior sagittal approach was recommended for common channel (CC) length <3 cm, those >3 cm it was followed by urogenital separation. However, many urologists are advocating that the urethral length rather than length of the CC should influence the choice of operation. It is also recommended that total urogenital mobilization should be avoided in patients with short urethral length as intraoperative decision to shift to urogenital separation will risk devascularization of the urethra, advocating total urogenital separation (TUS) from the start; the later technique was deemed difficult using open approach. We describe our experience with laparoscopic TUS and rectal pull-through in patients with cloacal malformation.
Methods
Six patients were operated for a period of 3 years from December 2017 to July 2021; they underwent laparoscopic TUS and rectal pull-through. Preoperative investigations included cystoscopy, genitogram, and MRI pelvis and abdominal ultrasound. IRB approval has been obtained from research ethical committee at Cairo University.
Results
Six female patients born with single perineal opening had colostomy at birth. Age during the second operation ranged from 1 to 4 years. Length of the CC ranged between 2 and 5 cm. Proximal urethral length ranged between 0.5 and 1.5 cm and vaginal depth >3 cm. Average operative time was 4.25 hours. Postoperative period was 1–5 days and uneventful. On the long-term follow-up. No patient developed urethrovaginal fistula and one patient developed vaginal stenosis. All patients had no urinary problems, dry over 4-hour interval, voiding spontaneously, and had normal kidney functions.
Conclusions
Laparoscopic urogenital separation, as well as vaginal and rectal pull-through for cloacal malformation, is feasible in cloacal malformation providing anatomical repair.
... It is one of the congenital disorders that are assessed to be 6 in each 100,000 female births (1). While PUGS can present as an isolated anomaly, it has additionally been associated with different diseases, including congenital adrenal hyperplasia or McKusick-Kaufman syndrome [4,5]. A diagnosis of PUGS is challenging because of the complexity and uncommonness of this condition. ...
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.
... Because of difficulties in performing usual skin preparation for clitoridectomy, antibiotics were used postoperatively. Instead of resembling the normal anatomical position of either a male (distal end of the pars longa glands) or female (approximately 3 cm cranial to the clitoris), the urethral opening was located along the caudoventral surface of the clitoris at the caudal end of the hypospadias, which is abnormally located urinary orifice in the male due to incomplete masculinization of urogenital sinus (Marei et al., 2016). Initially, the embryo has the undifferentiated ducts and structures, from which both internal and external genitalia develop (Marei et al., 2016;Araujo et al., 2018). ...
... Instead of resembling the normal anatomical position of either a male (distal end of the pars longa glands) or female (approximately 3 cm cranial to the clitoris), the urethral opening was located along the caudoventral surface of the clitoris at the caudal end of the hypospadias, which is abnormally located urinary orifice in the male due to incomplete masculinization of urogenital sinus (Marei et al., 2016). Initially, the embryo has the undifferentiated ducts and structures, from which both internal and external genitalia develop (Marei et al., 2016;Araujo et al., 2018). The possible cause of this condition seems to be the genetic disorder during embryogenesis. ...
The disorder of the X chromosome causes defects in sex differentiation in the female
phenotype. This work reports a six-month-old, Cocker Spaniel dog with intersex
disorder diagnosed as pseudo-hermaphroditism. The dog was brought to the clinic
with a swollen reddish penis-like protrusion, which was partially covered by the
sheath. Clinical examination revealed the presence of raised nipple-like structures,
resembling the nipples and extending from chest to groin region. However, the testes
could not be detected. PCR analysis revealed the absence of the Y chromosome. A
corrective surgery, including clitoridectomy, and removal of uterus and testicles like structures, was performed. Histological examination of the removed organs
showed underdeveloped testes and well-recognized endometrium. This report
suggests that surgical correction may be used to overcome any possible
complications in a six-month-old dog with pseudo-hermaphroditism.
... Classification of the common urogenital sinus anomalies depends on measuring the length of the common channel and/or the urethra [4,5]; a process that may be subjected to several fallacies and errors that have been highlighted in previous reports [6,7]. Besides, these measurements do not consider the age variation when cut-off values have been arbitrarily applied to differentiate between high and low types [8,9]. ...
