Women's response regarding timing of genital surgery in congenital adrenal hyperplasia.

Purpose: To study what adult women with congenital adrenal hyperplasia (CAH) thought about the timing of genital surgery.

Methods: As part of a larger follow-up study performed between the years 2002-2005 there were questionnaires concerning genital surgery, type of surgery, their thoughts about timing of genital surgery and experience of information about surgery. Early surgery was defined as ≤4 years of age and late ≥10 years.

A qualitative content analysis of the experience of hypospadias care: The importance of owning your own narrative.

Objectives: There is a lack of studies on men's individual experiences of living with hypospadias. We aimed to explore the personal experiences of having hypospadias in relation to healthcare and surgery.

Subjects And Methods: Purposive sampling was used to include men (aged 18 and over) with hypospadias representing different phenotypes (from distal to proximal) and ages in order to maximise the variation and richness of our data.

Bowel Control, Bladder Function, and Quality of Life in Children with Cloacal Malformations.

Introduction: Long-term outcomes of cloacal malformations remain unclear. We evaluated postoperative bowel control, bladder function and quality of life in patients under 18 years of age with cloaca.

Materials And Methods: This was a multi-center cross-sectional observational study accomplished by the Nordic Pediatric Surgery Research Consortium.

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.

Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved in classic bladder exstrophy, but were limited to a restrict number of cohort. Here we show the largest classic bladder exstrophy genome-wide association analysis to date where we identify eight genome-wide significant loci, seven of which are novel.

Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.

Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%-3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly.

Role of Genetic Counseling for Patients with Hypospadias and Their Families.

Congenital malformations often have a genetic background associated with a recurrence risk and may be part of a syndrome. Therefore, for children with a congenital malformation, the parents should be offered genetic counseling, and the child should also be offered the same when they reach adulthood. Hypospadias is a common malformation in boys that arises during genital development in weeks 8 to 16.

[On micropenis, diagnosis and differential diagnoses].

The term inconspicuous penis in children covers both micropenis with a penile length less than 2.5 SD for age and other conditions with a normal length of corpora, but when the penis looks smaller due to other diagnoses. Micropenis in a newborn is a serious condition that needs immediate attention by a paediatric endocrinologist.

Masculinizing surgery in disorders/differences of sex development: clinician- and participant-evaluated appearance and function.

Objectives: To report the long-term follow-up outcomes of masculinizing surgery in disorders/differences of sex development (DSD), including both physicians' and patients' perspectives on appearance and functional outcome, including sexuality.

Patients And Methods: In total, 1040 adolescents (age ≥16 years) and adults with a DSD took part in this multicentre cross-sectional clinical study in six European countries in 2014/2015. Of those, 150 living in other than the female gender had some kind of masculinizing surgery: hypospadias repair, orchidopexy, breast reduction and/or gonadectomy.

Four-hour voiding observations detect neurogenic lower urinary tract dysfunction in neonates with anorectal malformation.

Introduction: Neurogenic lower urinary tract dysfunction (LUTD) has been reported in 20-50% of children with anorectal malformations (ARM). As neurogenic LUTD represents an inherent risk of renal deterioration and urinary tract infections, an early diagnosis is important. The gold standard for evaluating neurogenic LUTD involves invasive urodynamic testing but a useful addition should be an easy-to-perform, non-invasive method of screening.

Urological results and patient satisfaction in adolescents after surgery for proximal hypospadias in childhood.

Background: Proximal hypospadias repair is associated with a considerable complication risk. Long-term follow-up is required to present realistic expectations in pre-operative counseling.

Objective: To investigate adolescents after childhood surgery for proximal hypospadias in a prospective cohort study describing the urological outcome, complication rates and patient satisfaction with penile appearance.

Changes in differential renal function after pyeloplasty in infants and children.

Introduction: Ureteropelvic junction obstruction (UPJO) is one of the most common causes of hydronephrosis in pediatric populations. Many need surgical intervention. The aim of surgery is preserving renal function and reducing symptoms such as urinary tract infections and pain.

Perineal hypospadias repair with preservation of a coincidental vagina or perineal utricle in boys with disorders of sex development.

Introduction: An enlarged utricle in patients with proximal hypospadias or disorders of sex development (DSD) is common. The utricle orifice is usually in the posterior urethra near the verumontanum, but in exceptional cases located on the perineum. Concurrence of a perineal hypospadias and perineal utricle or vagina is also known as male vagina, pseudovagina, or blind vaginal pouch.

Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.

Background: The bladder exstrophy-epispadias complex (BEEC) is a congenital malformation of the bladder and urethra. The underlying causes of this malformation are still largely unknown; however, aside from environment, genetics is thought to play an essential role. The recurrent 22q11.

Health-related quality of life among children, adolescents, and adults with bladder exstrophy-epispadias complex: a systematic review of the literature and recommendations for future research.

Purpose: Bladder exstrophy-epispadias complex (BEEC) is a rare spectrum of genitourinary malformations. Children risk long-term urinary and genital dysfunctions. To achieve a comprehensive understanding, this study aimed to review the literature on generic and disease-specific health-related quality of life (HRQOL) in BEEC patients, and methodologies used.

Psychiatric symptoms in men with hypospadias - preliminary results of a cross-sectional cohort study.

Aim: Population studies have shown an increased risk of neurodevelopmental disorders in males born with the congenital condition hypospadias, where the opening of the urethra is on the underside of the penis. We investigated overall psychiatric morbidity in cases and matched controls.

Methods: This study compared 167 men born with hypospadias from 1959 to 1994 in Stockholm or Gothenburg in Sweden using hospital registers.

Psychosocial and Sexual Outcomes in Adolescents following Surgery for Proximal Hypospadias in Childhood.

Purpose: We evaluated psychosocial outcomes, psychosexual development and sexual function in adolescents who had undergone surgery for proximal hypospadias. We hypothesized that these outcomes would be impaired compared to peers.

Materials And Methods: We identified 55 males age 14 years or older who underwent surgery for penoscrotal to perineal (intraoperatively defined) hypospadias between 1996 and 2005.