Workstream 1 (WS1) focuses on rare congenital uro-recto-genital anomalies. The Expertise Areas (EAs) covered by Workstream 1 are below. Differences in sex development (DSD) is a term used to describe a group of congenital conditions in which an individual’s biological sex does not fully align with typical male or female development. DSD can involve differences in chromosomal sex, gonadal sex (the presence of testes or ovaries), hormonal sex (the levels of male or female hormones), or genital sex (the appearance of external genitalia). These variations can result in a wide range of phenotypes, from individuals with typical male or female characteristics to individuals with ambiguous genitalia or atypical reproductive systems. DSD can be caused by genetic mutations, hormonal imbalances, or environmental factors, and the condition may be diagnosed prenatally or at birth. Treatment may involve medical or surgical interventions, depending on the specific condition and the individual’s needs. DSD affects a small percentage of the population and can have significant social and psychological implications for affected individuals and their families. 46, XY Disorders of Sexual Development. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Early Genital Surgery in Disorders/Differences of Sex Development: Patients’ Perspectives. This paper by Bennecke et al. (2021) provides data on the views of 415 adult DSD patients on early genital surgery. The results are encouraging and provide powerful arguments both against a total ban on early surgery in children with DSD and also for an individualised approach. Societies for Pediatric Urology (SPU) policy statements. The SPU Intersex Task Force and SPU Leadership have spent a significant amount of time advocating for both the rights of patients and health care professionals that care for patients with intersex and Congenital Adrenal Hyperplasia (CAH). This work has led to the development of several policy statements, which include: [Please note that these policies collectively summarise the SPU and ESPU position with respect to the evaluation and management of this condition, and represent the views of the SPU and ESPU representatives only.] Turner Syndrome. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Bladder exstrophy is a congenital abnormality in which the bladder is exposed outside of the body, as the pelvic bones and muscles that usually support it do not properly form. This can lead to a variety of associated anomalies, including problems with bladder function and urination, as well as genital and reproductive abnormalities. Bladder exstrophy is a complex condition that may require multiple surgeries and a team approach for comprehensive care. Association for the Bladder Exstrophy Community. The Association for the Bladder Exstrophy Community (aBEc) is an international support network for patients and families living with bladder exstrophy. Cloacal Exstrophy. Disease Info search page and Genetic and Rare Diseases Information Center page. Exstrophy-Epispadias Complex. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Rare urological stone and kidney diseases refer to a group of conditions affecting the urinary system and kidneys that are relatively uncommon and may be difficult to diagnose and treat. These conditions can include rare types of kidney stones, as well as rare genetic or metabolic disorders that affect kidney function. Treatment for rare urological stone and kidney diseases may involve a combination of medical management, dietary changes, and surgical interventions, depending on the specific condition and the individual’s needs. Due to their rarity, these conditions may require specialized care from healthcare providers with expertise in rare urological and kidney disorders. Bartter Syndrome. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Cystinosis. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Cystinosis Research Foundation. The Cystinosis Research Foundation’s mission is to support bench, clinical and translational research internationally to find better treatments and a cure for cystinosis. Cystinuria. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Homocystinuria. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. International Cystinuria Foundation Incorporated. The Mission of the International Cystinuria Foundation is to strengthen, educate, and further the general wellbeing of the cystinuric community. Non-syndromic urogenital tract malformations refer to a group of congenital anomalies affecting the development of the urinary and/or reproductive systems that are not associated with any known genetic syndromes. These malformations can involve various parts of the urinary and/or reproductive tract, such as the kidneys, ureters, bladder, urethra, or genitals, and can present with a range of symptoms and severity levels. Diagnosis of non-syndromic urogenital tract malformations may involve imaging studies, genetic testing, and other diagnostic tests, and treatment may involve medical management, surgical interventions, or a combination of both. The cause of many non-syndromic urogenital tract malformations is not well understood, but may involve a combination of genetic and environmental factors. Caudal Regression Syndrome. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Congenital Bilateral Aplasia of Vas Deferens. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Congenital giant megaureter. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Diphallia. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Duplication of Urethra. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. International Federation for Spina Bifida and Hydrocephalus. Promotion and protection of the human rights of people with Spina Bifida and Hydrocephalus in accordance with the UN Convention on the Rights of Persons with Disabilities. Ochoa syndrome. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Penis agenesis. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Penoscrotal transposition. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Spina Bifida. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Vagina, absence of. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Posterior urethral valves (PUV) are a congenital abnormality affecting the male urinary tract where there are thin membranes or folds of tissue located in the urethra, the tube that carries urine from the bladder to the outside of the body. These valves can obstruct or partially block the flow of urine out of the bladder, causing urinary tract problems and potentially leading to bladder and kidney damage if left untreated. PUV is typically diagnosed in male infants and may present with symptoms such as a weak urinary stream, urinary tract infections, urinary incontinence, and abdominal distension. Treatment may involve surgical correction of the valves to improve urine flow and prevent complications. Posterior urethral valves. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Hypospadias is a congenital abnormality of the male external genitalia where the urethral opening is located on the underside of the penis instead of the tip. Posterior hypospadias specifically refers to a form of hypospadias where the urethral opening is located closer to the scrotum, closer to the base of the penis, or in the perineum (the area between the scrotum and anus). In posterior hypospadias, the degree of abnormality is more severe than in other forms of hypospadias, and surgical correction may be necessary to improve urination, sexual function, and cosmetic appearance. The condition is typically diagnosed soon after birth and may be associated with other birth defects or genetic syndromes. Hypospadias. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. Urorectal/anorectal malformations refer to a group of congenital anomalies affecting the development of the urinary and/or digestive systems, resulting in abnormalities in the way urine and faeces are eliminated from the body. These malformations can involve various parts of the urinary and/or digestive tract, such as the bladder, urethra, genital organs, rectum, and anus. Urorectal/anorectal malformations are typically diagnosed soon after birth and may require surgical intervention to correct. The severity and specific type of urorectal malformation can vary widely, and some cases may be associated with other birth defects or genetic syndromes. Anorectal Malformations. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. ARM-Net. The ARM-Net Consortium is a group of professionals and patient representatives that aim to exchange data and knowledge to improve clinical care and to perform research on congenital anorectal malformations. Sexual Support for Anorectal Malformations & Hirschsprung’s Disease. A website available in English and Dutch, developed in close collaboration with patients and specialist practitioners in the Netherlands for patients, their parents, healthcare professionals, and other relations. TOFS. Working towards a world in which those born with OA/TOF and VACTERL live long and healthy lives, unconstrained by the impact of being born with these conditions. VACTERL/VATER association. Disease InfoSearch page and Genetic and Rare Diseases Information Center page. EAU Paediatric Urology Guidelines. The European Association of Urology (EAU) Paediatric Urology Guidelines Panel has prepared these guidelines with the aim of increasing the quality of care for children with urological conditions. EAU Congenital Malformation in the Urinary Tract Patient Information. The European Association of Urology (EAU) Patient Office provides reliable patient information on urology conditions and urology health. ESPU Parent and Patient Information System. An online e-book containing information on the most common genitourinary disorders in children. Pull-thru Network, Inc. The Pull-thru Network is an international volunteer-based organisation dedicated to providing education, information, support and advocacy for those individuals, and the families of those individuals, who are affected by any congenital anorectal, colorectal or urogenital disorder and any of the variety of related diagnoses.Workstream 1: Rare congenital uro-recto-genital anomalies
EA 1.1 Complex genital reconstructions (DSDs)
ORPHAcodes & ICD-10 Codes
ORPHAcode 90776 / ICD-10 Code Q99.1
ORPHAcode 98085 / ICD-10 Code Q56.1
ORPHAcode 881 / ICD-10 Codes Q96.0, Q96.1, Q96.2, Q96.3, Q96.4, Q96.8, Q96.9
ORPHAcode 90794 / ICD-10 Code E25.0EAC & Vice-EAC
ePAG Advocate / Patient Representative
Additional Resources
EA 1.2 Bladder exstrophy/epispadias
EAC & Vice-EAC
ePAG Advocate / Patient Representative
Additional Resources
EA 1.3 Rare urological stone & kidney diseases
ORPHAcodes & ICD-10 Codes
ORPHAcode 394 / ICD-10 Code E72.1
ORPHAcode 93587 / ICD-10 Code Q61.1
ORPHAcode 112 / ICD-10 Code E26.8
ORPHAcode 213 / ICD-10 Code E72.0
ORPHAcode 214 / ICD-10 Code E72.0
ORPHAcode 1652 / ICD-10 Code N25.8EAC & Vice-EAC
Additional Resources
EA 1.4 Non-syndromic urogenital tract malformation
ORPHAcodes & ICD-10 Codes
ORPHAcode 823, 268369, 268377, 268748 / ICD-10 Codes Q05.0, Q05.1, Q05.2, Q05.3, Q05.4, Q05.5, Q05.6, Q05.7, Q05.8, Q05.9
ORPHAcode 96269
ORPHAcode 180154
ORPHAcode 65681
ORPHAcode 617
ORPHAcode 435743
ORPHAcode 237
ORPHAcode 495879
ORPHAcode 48
ORPHAcode 227
ORPHAcode 95707
ORPHAcode 49
ORPHAcode 2842
ORPHAcode 435365
ORPHAcodes 84085, 2704
ORPHAcode 3027EAC & Vice-EAC
Additional Resources
EA 1.5 Posterior urethral valves
EAC & Vice-EAC
Additional Resources
EA 1.6 Posterior hypospadias
EAC & Vice-EAC
Additional Resources
EA 1.7 Urorectal/anorectal malformations
ORPHAcodes & ICD-10 Codes
ORPHAcode 600952
ORPHAcode 600961
ORPHAcode 600966
ORPHAcode 600975
ORPHAcode 600984
ORPHAcode 600993
ORPHAcode 601002
ORPHAcode 601008
ORPHAcode 601013
ORPHAcode 601018
ORPHAcode 601023
ORPHAcode 601028
ORPHAcode 601033
ORPHAcode 600998
ORPHAcode 228113 / ICD-10 Code K60.3
ORPHAcode 887 / ICD-10 Code Q87.2EAC & Vice-EAC
ePAG Advocates / Patient Representatives
Additional Resources
Additional Resources