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Hypogonadism with prune belly syndrome — Clinical Guidelines

Overview

Prune belly syndrome (PBS) is a rare congenital disorder characterized by abdominal muscle deficiency, significant genitourinary abnormalities including cryptorchidism, and often severe urinary tract dysfunction 1 3 10.

Diagnosis

Key Diagnostic Criteria: Abdominal muscle deficiency, urinary tract abnormalities (e.g., megaureter, dilated renal pelvis), cryptorchidism 1 3 10.

Recommended Tests: Intravenous urography, micturating cystourethrography, ultrasound to assess urinary tract involvement 7 6.

Grading: Classification based on severity of urinary tract involvement (Groups I-III) 6.

Management

First-Line Treatments:

- Early Surgical Interventions: Bilateral tubeless pyelostomy in neonates, followed by orchiopexy and urinary tract reconstruction around 1 year of age 5 11. - Orchiopexy: Performed early (neonatal to young infant stage) to optimize testicular function 12.

Adjunctive Treatments:

- Urinary Tract Reconstruction: Ureteral reimplantation, tailoring of ureteral caliber, and reduction cystoplasty for large bladders 13 20. - Continent Stomas: For management of severe bladder dysfunction, using techniques like Mitrofanoff principle 2.

Special Populations

Pediatrics: Early surgical interventions are crucial for improving outcomes in neonates and infants 5 11 12.

Comorbidities: Associated conditions like pulmonary complications (hypoplasia, atelectasis, pneumonia) require prompt recognition and management 15.

Key Recommendations

Perform early surgical interventions including bilateral pyelostomy in neonates followed by orchiopexy and urinary tract reconstruction around 1 year of age to optimize renal and testicular outcomes (Evidence: Strong 5 11).

Conduct early neonatal investigations to tailor individualized treatment plans, distinguishing between conservative management and those requiring immediate reconstruction or drainage (Evidence: Moderate 17).

Consider urinary tract reconstruction techniques such as ureteral reimplantation and reduction cystoplasty for managing severe bladder dysfunction in patients with PBS (Evidence: Moderate 13 20).

References

1 Yu TJ, Lai MK, Chen WF, Wan YL. Two-stage orchiopexy with laparoscopic clip ligation of the spermatic vessels in prune-belly syndrome. Journal of pediatric surgery 1995. link90768-8) 2 Klauber GT, Cendron M. Continent vesicostomy using a catheterizable posterior bladder tube: modification of the Mitrofanoff principle. Journal of pediatric surgery 1994. link90527-4) 3 Gaboardi F, Sterpa A, Thiebat E, Cornali R, Manfredi M, Bianchi C et al.. Prune-belly syndrome: report of three siblings. Helvetica paediatrica acta 1982. link 4 Kirchner SG, Kirchner FK, Jolles H, Heller RM, Rhamy RK, Donnell RM. Bladder calcification in the prune-belly syndrome. Radiology 1981. link 5 Randolph J, Cavett C, Eng G. Surgical correction and rehabilitation for children with "Prune-belly" syndrome. Annals of surgery 1981. link 6 Garris J, Kangarloo H, Sarti D, Sample WF, Smith LE. The ultrasound spectrum of prune-belly syndrome. Journal of clinical ultrasound : JCU 1980. link 7 Aaronson IA, Cremin BJ. Prune belly syndrome in young females. Urologic radiology 1979. link 8 Lockhart JL, Reeve HR, Bredael JJ, Krueger RP. Siblings with prune belly syndrome and associated pulmonic stenosis, mental retardation, and deafness. Urology 1979. link90145-6) 9 Tuch BA, Smith TK. Prune-bell syndrome: a report of twelve cases and review of the literature. The Journal of bone and joint surgery. American volume 1978. link 10 Goulding FJ, Garrett RA. Twenty-five-year experience with prune belly syndrome. Urology 1978. link90399-0) 11 Woodard JR, Parrott TS. Reconstruction of the urinary tract in prune belly uropathy. The Journal of urology 1978. link57644-2) 12 Woodard JR, Parrott TS. Orchiopexy in the prune belly syndrome. British journal of urology 1978. link 13 Rabinowitz R, Barkin M, Schillinger JF, Jeffs RD. Urinary tract reconstruction in prune belly syndrome. Urology 1978. link90400-4) 14 Morgan CL, Grossman H, Novak R. Imperforate anus and colon calcification in association with the prune belly syndrome. Pediatric radiology 1978. link 15 Alford BA, Peoples WM, Resnick JS, L'Heureux PR. Pulmonary complications associated with the prune-belly syndrome. Radiology 1978. link 16 Rabinowitz R, Schillinger JF. Prune belly syndrome in the female subject. The Journal of urology 1977. link58056-8) 17 Jeffs RD, Comisarow RH, Hanna MK. The early assessment for individualized treatment in the prune belly syndrome. Birth defects original article series 1977. link 18 Riccardi VM, Grum CM. The prune belly anomaly: heterogeneity and superficial X-linkage mimicry. Journal of medical genetics 1977. link 19 Pramanik AK, Altshuler G, Light IJ, Sutherland JM. Prune-belly syndrome associated with Potter (renal nonfunction) syndrome. American journal of diseases of children (1960) 1977. link 20 Perlmutter AD. Reduction cystoplasty in prune belly syndrome. The Journal of urology 1976. link58813-8)

Hypogonadism with prune belly syndrome