External Genital Anomalies Research Articles

Symptomatic prostatic utricle cyst: a case report

The prostatic utricle is a remnant of the Müllerian ducts and can be the site of a cyst that is usually asymptomatic and most often associated with hypospadias or other external genitalia anomalies. We report a rare case of a symptomatic prostatic utricle cyst revealed by lower urinary tract signs evolving since 3 months in a 19-year-old adolescent with cerebral palsy, without external genital anomalies. The diagnosis was confirmed by pelvic MRI, and the treatment consisted of transrectal ultrasound-guided aspiration with good clinical evolution.

OEIS Syndrome: Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects

OEIS Syndrome: Omphalocele, Exstrophy of the Cloaca, Imperforate Anus, and Spinal Defects

Surgical treatment for prostatic utricle cyst in children: A single-center report of 15 patients.

To report our single-center experience of the management of children with prostatic utricle cysts. We retrospectively analyzed 15 children who were incidentally found to have a prostatic utricle cyst and were admitted to our department between October 2013 and August 2020. Clinical characteristics and management were collected and catalogued. Recurrent genitourinary tract infections were the most frequent complaint, and two-thirds of patients also had hypospadias. A connection between the posterior urethra and the prostatic utricle cyst was found in all cases. Two patients directly had their progressively enlarging prostatic utricle cyst resected laparoscopically. Endoscopic techniques were used in 13 patients, two of whom underwent laparoscopic excision for repeated symptoms. The mean (range) follow-up period was 34.9 (2-82)months. No recurrences were observed in four patients who underwent prostatic utricle cyst excision and eight patients who received endoscopic treatment. Three patients had recurrent symptoms after endoscopic treatment and were managed by nonsurgical treatment. Prostatic utricle cyst is a rare disease which can cause recurrent genitourinary tract infections. Extra attention should be paid to evaluation for prostatic utricle cyst in children with external genital anomalies. Retrograde urethrogram and magnetic resonance imaging are useful tools with which to distinguish prostatic utricle cyst from other cystic lesions that are located in the midline pelvis in male patients. Individualized treatment is appropriate when considering fertility preservation, recurrences and malignancy. Laparoscopic excision is feasible for symptomatic and large prostatic utricle cyst. Regular long-term monitoring is recommended for all patients with prostatic utricle cyst.

Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan.

Objective:To describe the mode of presentation and frequency of external genital anomalies in disorder of sex development (DSD)Methods:This cross-sectional study was conducted at Children Hospital & Institute of Child Health, Lahore from January to December, 2016 on Children with DSD above 10 years of age. A detailed history and physical examination were done. Positive findings were recorded on a predesigned proforma and analyzed by SPSS 21. Karyotyping on blood samples was done to determine their genetic sex.Results:Out of 83 DSD children, 67% (n=56) were assigned a female sex at birth of which 9% (n=5) had ambiguous genitalia. Male sex at birth was given to 33% (n=27) of which 96% (n=26) had genital ambiguity. Mode of presentation other than ambiguous genitalia were delayed puberty, amenorrhea, hirsuitism, gynaecomastia, cyclic hematuria etc. Clitoromegaly was the main finding in 62.5% (n=5) and micropenis in 45% (n=9). Karyotypic sex of 56 female sex of rearing was 46XX 80% (n=45), 45X0 13% (n=7), XXX 2% (n=1) and 46 XY in 5% (n=3). Karyotypic sex of 27 male sex of rearing was 46XY in 78% (n=21), 46XX in 15% (n=4) and 47XXY in 7% (n=2).Conclusion:Disorders of sex development presented with a wide spectrum of external genital anomalies ranging from clitoromegaly in females to micropenis and hypospadias in males. There was also an extreme diversity in mode of presentation of these cases including pubertal delay, amenorrhea in females and gender confusion disorders.

External genital abnormalities in male primary school children: importance of structured school health survey

Background: Abnormalities of external genitalia are often under diagnosed in early childhood because of lack of awareness of parents about the anatomy of external genitalia and social inhibitions. These abnormalities, if left untreated, may lead to psychological, social, and sexual complication. Structured school health survey and awareness among parents can identify these abnormalities at early stage to avoid further complications later. Study was aimed at spreading awareness among parents of young children and school administration about importance of structured screening programme for detecting external genital abnormalities among the young boys to avoid various related complications later.Methods: It was a cross-sectional study covering 586 male primary school children of class I to V aged 6-12 yrs of two Schools in a capital city in northern state of India. All participants were physically examined for external genital anomalies by a trained medical officer. Data collected were analysed using standard statistical software, Statistical Programme for Social Sciences (SPSS) 15.0.Results: Abnormalities were detected in 84 (14.33%) children. Phimosis was commonest abnormality (7.5%), followed by Inguinal Hernia, Un-descended Testes, Hypospadias, Varicocele and Hydrocele. Children of parents having higher educational level were found having lesser prevalence of abnormalities.Conclusions: Diagnosis and management of abnormalities of external genitals of children is delayed due to lack of awareness among parents. Careful screening of these abnormalities at pre-school and school age, increased public awareness and early referral of children is very important to avoid the risk of having urogenital complications during adulthood.

Diagnosis of Fraser syndrome missed out until the age of six months old in a low-resource setting: a case report

BackgroundFraser syndrome is a rare genetic disorder that often presents with ocular, renal, genital and limb’s congenital anomalies. The prognosis of this genetic disorder depends on the severity of the combination of congenital malformations, some of which may be fatal. The diagnosis of Fraser syndrome is based on established clinical criteria and genetic tests. The criteria enabling clinical diagnosis are visible dysmorphic features present at birth, hence, Fraser syndrome can easily diagnosed at birth, except when health professionals are inexperienced in clinical recognition. Herein, we report a case of Fraser syndrome missed out at birth and fortuitously diagnosed at the age of six months in a bid to raise clinicians’ awareness, particularly in resource-limited settings.Case presentationWe report a case of a six-month-old Cameroonian female infant, born at home and taken the following day to a primary healthcare facility for neonatal care. Her mother had no antenatal care until birth. She presented at our health center with respiratory distress and fever. She had a temperature of 38.8 °C and signs of left lung basal consolidation, suggestive of a left lower lober pneumonia, confirmed on chest x-ray. Other incidental clinical findings were several dysmorphic features like bilateral cryptophthalmos, nasal malformation, anal imperforation (with a perianal fistula), an external genital anomaly and syndactyly characteristic of Fraser syndrome associated with pneumonia. The patient responded well to intravenous antibiotics for the treatment of her pneumonia. Thereafter, she was referred to a pediatric surgeaon for surgical corrections of her bilateral cryptophthalmos, anal imperforation, external genital defect and syndactyly.ConclusionHere we presented a case of Fraser syndrome in a Cameroonian infant whose diagnosis was missed out at birth and fortuitously made at six months of age. In view of the serious and potentially fatal complications of this genetic disorder, we draw clinicians’ attention, especially obstetricians, midwives and pediatricians for a high index of clinical suspicion geared at a timely diagnosis and management. Also, for a timely diagnosis, health education on regular antenatal and postnatal follow ups of the mother-infant couple respectively, cannot be overemphasized.

Prostatic utricles without external genital anomalies in children: our experience, literature review, and pooling analysis

BackgroundIt has been recognized that the incidence of prostatic utricle in boys is increasing and is closely associated with diseases such as hypospadias. However, the clinical features of prostatic utricle with normal external genitalia have received little attention.MethodsBased on this, a series of 22 male children with prostatic utricles has been compiled by adding our 3 patients to 19 cases reported. All children enrolled had normal external genitalia. Clinical data of the case was reviewed.ResultsUrinary tract infection, purulent urethral discharge and pyuria were the most common presenting chief complaint (41%), irritative lower urinary tract symptoms were present in 17% of cases, obstructive lower urinary tract symptoms were noted in 14%. Urinary retention has been reported in 18% and epididymitis has been reported in 14%. Relatively rare clinical symptoms are abdominal pain, hematuria, and hematospermia. A case of calculus formation and a case of neoplasia within the prostatic utricle has been reported. A cystic mass found by digital rectal examination is the most common presenting sign. A utricular lesion posterior to the bladder was revealed by imaging examination. Unilateral renal agenesis was associated in 32% of reports. Non-surgical approach was chosen in 3 cases, transrectal ultrasonography guided aspiration has been reported in 1 case. Endoscopic techniques were used in 3 cases. Open excision was used in 11 cases. The laparoscopic excision was chosen in 3 cases and Robot-assisted laparoscopy was reported in 1 case. Symptoms and signs disappeared after treatment in all children, and no recurrence occurred during follow-up.ConclusionsProstate utricles without external genital anomalies are rarely reported in children, and are easily missed and misdiagnosed, often accompanied by recurrent urinary tract infections, lower urinary tract symptoms, epididymitis, dysuria and other symptoms. Imaging studies can confirm the diagnosis. Symptomatic and large utricles should be actively treated. The treatment program should be based on the age, clinical symptoms, and size and location of the utricle.

Association between Anogenital Distance and External Genital Anomalies in Nigerian Newborn Infants

Aim: Animal studies regarding endocrine dysfunction have linked anomalies of male external genitalia with reduced anogenital distance (AGD). Human studies have associated shorter AGD with genital anomalies in males. The aim of the present study is to report the AGD measurement among Nigerian newborn infants with undescended testis and/or hypospadias and compare the results with that of infants with normal external genitalia. Methods: In this case-control study, the AGD of 17 newborn infants with abnormal external genitalia (undescended testis (UDT)/hypospadias) was measured and the result compared with that of 34 newborn infants with normal external genitalia (descended testes and no hypospadias, epispadias or chordee). Each case recruited was matched for birth weight and length with two controls delivered consecutively. Thus, a total of 51 (cases and controls) newborn infants were ultimately studied. The differences in AGD between infants with abnormal external genitalia compared with that of infants with normal external genitalia were examined, using two-tailed Student’s t-test, with p-value set at < 0.05. In addition, the AGD in infants with hypospadias was compared with the AGD in infants with UDT. Results: The mean AGD was 27.6±4.9mm (95% CI = 26.0-29.2), 26.3±5.4mm (95% CI = 23.0-29.6) and 25.1±6.2 mm (95 CI = 20.1-30.1) in infants with normal external genitalia, UDT and hypospadias, respectively; p > 0.05. The mean AGD was shorter in infants with hypospadias compared with infants with UDT, p > 0.05. Conclusions: The AGD in Nigerian newborn infants with either UDT or hypospadias tended to be shorter than that of their counterparts with normal genitals and this reduction was more in infants with hypospadias compared with infants with UDT.

Prenatal Anogenital Distance Is Shorter in Fetuses With Hypospadias.

Recent research provides evidence that anogenital distance may serve as a novel metric to assess reproductive potential in men. In children, a shorter anogenital distance was linked with cryptorchidism, hypospadias, and micropenis. Scarce data exist in the literature regarding anogenital distance measurement in the fetus. The aim of our study was to assess whether intrauterine measurement of fetal anogenital distance could assist in the differential diagnosis of male genital anomalies. Anogenital distance was prospectively measured in all cases referred for suspected isolated abnormal male genitalia. Final diagnoses, confirmed by a pediatric urologist, were compared with anogenital distance prenatal measurements. Fifty-two cases were referred for evaluation because of suspected male external genital malformation during a 12-month period. Cases with normal-appearing genitalia, associated major malformations, and early severe fetal growth restriction were excluded from the study. Postnatal examination revealed 14 cases of hypospadias in varying severity and 8 cases of a buried penis. All fetuses with hypospadias had an anogenital distance measurement below the fifth percentile. Statistical analysis revealed a significant difference between the normal mean anogenital distance for gestational age versus those with hypospadias (mean ± SD, 16.90 ± 4.08 and 11.68 ± 3.31 mm, respectively; P = .001). No significant difference was found between the normal mean anogenital distance for gestational age versus those with a buried penis (18.85 ± 2.76 and 19.46 ± 3.41 mm; P = .700). Fetuses with hypospadias have a statistically significant shorter anogenital distance compared with the general population. Therefore, anogenital distance may serve as a complementary objective sonographic parameter in the prenatal assessment and counseling of male external genital anomalies.

Molecular Characterization of the Genital Organizer: Gene Expression Profile of the Mouse Urethral Plate Epithelium

Lower urinary tract malformations are among the most common congenital anomalies in humans. Molecular genetic studies of mouse external genital development have begun to identify mechanisms that pattern the genital tubercle and orchestrate urethral tubulogenesis. The urethral plate epithelium is an endodermal signaling region that has an essential role in external genital development. However, little is known about the molecular identity of this cell population or the genes that regulate its activity. We used microarray analysis to characterize differences in gene expression between urethral plate epithelium and surrounding tissue in mouse genital tubercles. In situ hybridizations were performed to map gene expression patterns and ToppCluster (https://toppcluster.cchmc.org/) was used to analyze gene associations. A total of 84 genes were enriched at least 20-fold in urethral plate epithelium relative to surrounding tissue. The majority of these genes were expressed throughout the urethral plate in males and females at embryonic day 12.5 when the urethral plate is known to signal. Functional analysis using ToppCluster revealed genetic pathways with known functions in other organ systems but unknown roles in external genital development. Additionally, a 3-dimensional molecular atlas of genes enriched in urethral plate epithelium was generated and deposited at the GUDMAP (GenitoUrinary Development Molecular Anatomy Project) website (http://gudmap.org/). We identified dozens of genes previously unknown to be expressed in urethral plate epithelium at a crucial developmental period. It provides a novel panel of genes for analysis in animal models and in humans with external genital anomalies.

Evaluation of External Genital Anomalies and the Underlying Factors in Male Newborns

Background: External genital anomalies are the most common congenital disorders in male infants with unknown etiology in the majority of cases. According to recent reports, incidence rate of these anomalies is rising in different countries. This study aimed to evaluate the prevalence of external genital anomalies and possible underlying factors in male newborns. Methods: This cross-sectional study was conducted on all the male neonates born in Motahari Hospital of Urmia during October 2009-June 2010. Neonatal screening results and demographic data were recorded separately in a questionnaire for each neonate. Data analysis was performed in SPSS V.20 using descriptive statistics (mean, frequency, percentage, and standard deviation) and Chi-square test to evaluate the correlations between quantitative variables. Results: In this study, external genital anomalies were identified in 83 male neonates (8.3%). Moreover, 59 infants (5.9%) had cryptorchidism, 18 (1.8%) had hypospadias and 12 infants (1.2%) had microphallus. Moreover, a significant correlation was observed between the incidence of cryptorchidism and maternal comorbidities, low birth weight, prematurity, maternal gestational hypertension, and diabetes mellitus. Conclusion: According to the results of this study, cryptorchidism is the most prevalent external genital anomaly in male newborns, followed by hypospadias. Occurrence of these anomalies is associated with several risk factors, such as prematurity, low birth weight, maternal diseases (e.g., diabetes and hypertension), and use of medications during pregnancy. In addition, cryptorchidism had a significant correlation with smoking habits, and further studies with larger sample sizes are required in this regard.

Micropenis & Leucocyturia: a pointer to underlying urological anomaly?

UTI is common childhood infection yet frequently missed. The anomalies of genito-urinary tract are important predisposing factor for UTI. Certain anomalies of external genitalias points towards these internal urogenital anomalies. Present case an infant of 11 months with predominant presentation of bronchiolitis also had micropenis, which lead to focused renal screening and detection of multiple urological anomalies. Infant responded well to the treatment and is doing well on follow up. Learning Points: Careful genital examination for external genital anomalies can help to unmask serious yet asymptomatic underlying urological malformation, if present should be followed by urine R/M +/-C/S. Keywords: UTI, Micropenis, Urological anomaly

External Genital Anomaly and Phimosis Prevalence in Male School Children in Sakarya Province

External Genital Anomaly and Phimosis Prevalence in Male School Children in Sakarya Province

Evaluation of the neonates with anomalies of the external genitalia in our hospital

Evaluation of the neonates with anomalies of the external genitalia in our hospital Objective: To determine the prevalance of external genital abnormalities among neonates in our hospital. Material and Method: A total 3437 neonates delivered at Sisli Hamidiye Etfal Hospital between January 2010- December 2010 were examined at birth for external genital abnormalities. The presence of cliteromegali, inguinal / labial mass, hypospadias, micropenis, and undescended testicles and ambigus genitalia were examined. Results: The study identified 20 (6/1000) neonates with external genital abnormalities. All of them were examined within 3 days of life. Morphological abnormalities comprised: undescended testes (cryptorchidsm)(12/20), isolate hypospadias (5/20), cliteromegali (1/20), epispadias (1/20) and ambiguous genitale (1/20). The incidence of hypospadias and cryptorchidism were found 0.34%, 0.23%, respectively. Prematurity occured in 4/20 cases. Congenital adrenal hyperplasia were detected in two cases. Conclusions: External genital anomalies are among the most common congenital anomalies. Proper early diagnosis and management of genital abnormalities are of great importance to minimize medical, psychological and social complications. Our result reinforce the importance of a careful examination of genital morphology in neonatal period towards the recognition of minor defects that can be clinical features of a disorder of sex devolpoment.

Determining external genital abnormalities with a pre-circumcision examination in previously undiagnosed male school children.

We investigated whether children getting ready for circumcision under local anesthesia had any additional genital region abnormalities not detected before the circumcision. We performed circumcision under local anesthesia for children with normal physical examination findings, and together with corrective surgery for those with other genital anomalies among the children aged 6 years old and over presenting at the pediatric surgery department of our hospital during the school break. Circumcision was planned under local anesthesia in a total of 1,695 cases aged between 6 and 17 years during the June to September 2010 and 2011 periods. We found an external genital anomaly in the pre-circumcision physical examination in 58 patients (3.4%), with a mean age of 7.87 ± 1.49 years. These patients were operated on with corrective surgery while 1,637 children underwent circumcision under local anesthesia. The most common anomaly was inguinal hernia seen in 14 (24.1%), followed by hypospadias in 11 (18.9%), hydrocele in 9 (15.9%) and undescended testis in 8 (13.8%). In countries where circumcision is traditional, an intervention room within the hospital to perform circumcision under local anesthesia can enable many children to be circumcised under hospital conditions and previously undetected genital abnormalities to be found with a pre-circumcision genital region examination.

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

Genitopatellar syndrome (GPS) is a rare disorder in which patellar aplasia or hypoplasia is associated with external genital anomalies and severe intellectual disability. Using an exome-sequencing approach, we identified de novo mutations of KAT6B in five individuals with GPS; a single nonsense variant and three frameshift indels, including a 4 bp deletion observed in two cases. All identified mutations are located within the terminal exon of the gene and are predicted to generate a truncated protein product lacking evolutionarily conserved domains. KAT6B encodes a member of the MYST family of histone acetyltranferases. We demonstrate a reduced level of both histone H3 and H4 acetylation in patient-derived cells suggesting that dysregulation of histone acetylation is a direct functional consequence of GPS alleles. These findings define the genetic basis of GPS and illustrate the complex role of the regulation of histone acetylation during development.

Blepharophimosis-ptosis-epicanthus inversus syndrome plus

Blepharophimosis-ptosis-epicanthus inversus syndrome(BPES; OMIM110100) is a genetic disorder usually inherited in an autosomal dominant manner. Primarily, its diagnosis is based on four major features present at birth: short horizontal palpebral fissures (blepharophimosis), drooping of the eyelids (ptosis), a vertical fold of skin from the lower eyelid up either side of the nose (epicanthus inversus), and lateral displacement of the inner canthi with normal interpupillary distance(telecanthus; Oley and Baraitser, 1988). Two types of BPES are recognized: type I BPES includes the four major eyelid features and female infertility as a result of premature ovarian failure, whereas type II BPES consists only of eyelid abnormalities (Zlotogora et al., 1983). BPES is sometimes associated with developmental delay, but patients with BPES typically have a normal lifespan (Oley and Baraitser, 1988; Beysen et al., 2009). The clinical diagnosis of BPES is confirmed with demonstration of a FOXL2 mutation, subtle FOXL2 deletion or 3q23 microdeletion, or deletion of the FOXL2 regulatory region (Crisponi et al., 2001; De Baere et al., 2003; Beysen et al., 2005; D’haene et al., 2009). FOXL2, located at 3q23, is the only gene currently known to be associated with BPES (Beysen et al., 2009). It is possible to identify an underlying genetic defect in 88% of BPES cases diagnosed clinically (Beysen et al., 2009). Of the genetic defects found, approximately 81% are intragenic mutations of FOXL2, 10–12% are microdeletions of the gene or surrounding areas, and 5% are deletions in the regulatory areas (Beysen et al., 2009; D’haene et al., 2009,2010). In BPES-like patients (i.e. those displaying some,but not all four major features of BPES), other copy number changes can be detected in 33% of cases(Gijsbers et al., 2008). Patients with BPES carrying larger deletions encompassing FOXL2 present more frequently with associated clinical findings, such as mental retardation (D’haene et al., 2009). In this study, we present a child with BPES caused by a large interstitial deletion,3q22.3q23 (chr3:139 354 104–144 013 999)(hg18), which includes FOXL2. In addition to the classic features of BPES, he presents with an external genital anomaly,spastic diplegia, and speech delay.

Are abdominal wall defects and external genitalia anomalies randomly expressed in some families?

Familial cases of isolated abdominal wall defects with variable expressivity in more than one generation have rarely been observed. We report four affected individuals within a small three-generation family with either variable non-syndromic abdominal wall defects or external genital anomalies. We discuss the possible transmission of non-syndromic abdominal wall defects. It could be hypothesized that similar developmental defects may result in anomalies like hypospadias in males or developmental anomalies of the labia minora or labia majora in females.

Screening of Genital Anomalies in Newborns and Infants in Two Egyptian Governorates

Background: External genital anomalies are among the most common congenital anomalies. Proper early diagnosis and management of genital abnormalities are of great importance to minimize medical, psychological and social complications. Aim: To detect the incidence of external genital anomalies and disorders of sex development (DSD) in Great Cairo and Qalyubiyah governorates. Subjects and Methods: 20,000 newborns and infants up to the age of 6 months coming for compulsory vaccination at primary health care units and centers in Great Cairo and Qalyubiyah governorates were examined in the years 2006–2007 for suspected genital anomalies. Results: There were 187 (93.5/10,000) cases with external genital anomalies among the screened 20,000 participants. Various abnormalities in the form of 46,XY DSD, undescended testis, hydrocele, hypospadias, micropenis, synechia of the labia and other genital anomalies were diagnosed and classified after thorough clinical examination, and hormonal, radiological, and laparoscopic investigations. Conclusion: This first pilot study in Great Cairo and Qalyubiyah governorates showed a relatively high incidence of genital anomalies and DSD. Therefore, we recommend more studies including larger population sizes to detect the actual incidence of genital anomalies and DSD in Egypt in order to serve those patients and their families.

The prevalence pattern of external male genital defects among secondary school students in Enugu State of Nigeria.

Enugu State typifies a Third World environment where most deliveries occur outside the hospital setting. In such circumstances, hospital-based data about congenital defects are unreliable and call for special methods of approach. To determine the prevalence and pattern of male external genital defects in Igbo male secondary school students in Nigeria. Samples of male students aged 10 years and above seen in randomly selected secondary schools in Enugu State, of South-East Nigeria were guided through a protocol involving, self administered questionnaires, personal interviews and physical examinations for evidence and types of anomalies present in their external genitalia. The participating schools were selected by stratified random sampling; first by local government Areas (LGA) and then by schools. Consents for the study were obtained from Local Government Authorities, Heads of the schools and Parents' Teachers Associations, (PTA) Executives. Altogether, four urban and thirteen rural schools were studied, and a total of 6225 male students participated. Overall, 416 (6.8%) were identified with various types of external genital anomalies, with the prevalence observed being within, the ranges of population prevalence reported in the literature. The commonest types of anomalies encountered were crypto- orchidism with / or without scrotal hypoplasia 268 (4.30%), inguino- scrotal 56 (0.90%), and hydrocoeles 52 (0.83%). As many as 183 (44%) of those with congenital genital defects were not aware that they had them. External male genital defects among Igbos appear to be within the prevalence rate reported in the literature. However the ignorance rate of such defects is high within the Igbo society.