Orchidopexy in children with Prader–Willi syndrome: Results of a long-term follow-up study

Maurizio Pacilli, Yves Heloury, Mike O'Brien, Tess Lionti, Margaret Rowell, John Hutson

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Introduction
Prader–Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86–100% of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children.
Study design
A follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed. Patients were identified from a National PWS registry and reviewed at a special follow-up clinic. Data were collected from electronic and hard copies records and reported as median (range).
Results
Thirty-three children (1–17 years) were identified. Co-morbidities were present in 22 (66%) and 15 (45%) were on growth-hormone therapy. Six patients (19%) had normal testes palpable in the scrotum; twenty-seven (81%) had undescended testes and required orchidopexy. Thirteen (48%) underwent a bilateral procedure for a total of 40 procedures. A 2-stage Fowler-Stephens orchidopexy was required in 2 (7%) testes. At surgery hypotrophic testes were documented in 6 (22%) patients. Age at orchidopexy was 1.4 years (0.5–5.5). Age at FU was 7.2 years (1.7–17). Length of follow-up is 3.5 years (0.4–14). At follow-up 16 (40%) testes were of normal size and palpable in the scrotum; 7 (17.5%) testes required redo-orchidopexy. All patients (6/33) over 16 years of age that had testosterone levels tested had values below normal limits after successful orchidopexy.
Conclusions
This study evaluates the results of orchidopexy in a large population of children with PWS. At follow-up, only 40% of testes were of normal size and in the scrotum. This information should be taken into consideration for patients' management and pre-operative parents' counseling.
Original languageEnglish
Pages (from-to)63.e1-63.e6
Number of pages6
JournalJournal of Pediatric Urology
Volume14
Issue number1
DOIs
Publication statusPublished - 1 Feb 2018

Keywords

  • Fertility
  • Orchidopexy
  • Prader-Willi

Cite this

Pacilli, Maurizio ; Heloury, Yves ; O'Brien, Mike ; Lionti, Tess ; Rowell, Margaret ; Hutson, John. / Orchidopexy in children with Prader–Willi syndrome : Results of a long-term follow-up study. In: Journal of Pediatric Urology. 2018 ; Vol. 14, No. 1. pp. 63.e1-63.e6.
@article{b62f1451fa384610a666002ba8e64ee3,
title = "Orchidopexy in children with Prader–Willi syndrome: Results of a long-term follow-up study",
abstract = "IntroductionPrader–Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86–100{\%} of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children.Study designA follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed. Patients were identified from a National PWS registry and reviewed at a special follow-up clinic. Data were collected from electronic and hard copies records and reported as median (range).ResultsThirty-three children (1–17 years) were identified. Co-morbidities were present in 22 (66{\%}) and 15 (45{\%}) were on growth-hormone therapy. Six patients (19{\%}) had normal testes palpable in the scrotum; twenty-seven (81{\%}) had undescended testes and required orchidopexy. Thirteen (48{\%}) underwent a bilateral procedure for a total of 40 procedures. A 2-stage Fowler-Stephens orchidopexy was required in 2 (7{\%}) testes. At surgery hypotrophic testes were documented in 6 (22{\%}) patients. Age at orchidopexy was 1.4 years (0.5–5.5). Age at FU was 7.2 years (1.7–17). Length of follow-up is 3.5 years (0.4–14). At follow-up 16 (40{\%}) testes were of normal size and palpable in the scrotum; 7 (17.5{\%}) testes required redo-orchidopexy. All patients (6/33) over 16 years of age that had testosterone levels tested had values below normal limits after successful orchidopexy.ConclusionsThis study evaluates the results of orchidopexy in a large population of children with PWS. At follow-up, only 40{\%} of testes were of normal size and in the scrotum. This information should be taken into consideration for patients' management and pre-operative parents' counseling.",
keywords = "Fertility, Orchidopexy, Prader-Willi",
author = "Maurizio Pacilli and Yves Heloury and Mike O'Brien and Tess Lionti and Margaret Rowell and John Hutson",
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Orchidopexy in children with Prader–Willi syndrome : Results of a long-term follow-up study. / Pacilli, Maurizio; Heloury, Yves; O'Brien, Mike; Lionti, Tess; Rowell, Margaret; Hutson, John.

In: Journal of Pediatric Urology, Vol. 14, No. 1, 01.02.2018, p. 63.e1-63.e6.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Orchidopexy in children with Prader–Willi syndrome

T2 - Results of a long-term follow-up study

AU - Pacilli, Maurizio

AU - Heloury, Yves

AU - O'Brien, Mike

AU - Lionti, Tess

AU - Rowell, Margaret

AU - Hutson, John

PY - 2018/2/1

Y1 - 2018/2/1

N2 - IntroductionPrader–Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86–100% of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children.Study designA follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed. Patients were identified from a National PWS registry and reviewed at a special follow-up clinic. Data were collected from electronic and hard copies records and reported as median (range).ResultsThirty-three children (1–17 years) were identified. Co-morbidities were present in 22 (66%) and 15 (45%) were on growth-hormone therapy. Six patients (19%) had normal testes palpable in the scrotum; twenty-seven (81%) had undescended testes and required orchidopexy. Thirteen (48%) underwent a bilateral procedure for a total of 40 procedures. A 2-stage Fowler-Stephens orchidopexy was required in 2 (7%) testes. At surgery hypotrophic testes were documented in 6 (22%) patients. Age at orchidopexy was 1.4 years (0.5–5.5). Age at FU was 7.2 years (1.7–17). Length of follow-up is 3.5 years (0.4–14). At follow-up 16 (40%) testes were of normal size and palpable in the scrotum; 7 (17.5%) testes required redo-orchidopexy. All patients (6/33) over 16 years of age that had testosterone levels tested had values below normal limits after successful orchidopexy.ConclusionsThis study evaluates the results of orchidopexy in a large population of children with PWS. At follow-up, only 40% of testes were of normal size and in the scrotum. This information should be taken into consideration for patients' management and pre-operative parents' counseling.

AB - IntroductionPrader–Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86–100% of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children.Study designA follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed. Patients were identified from a National PWS registry and reviewed at a special follow-up clinic. Data were collected from electronic and hard copies records and reported as median (range).ResultsThirty-three children (1–17 years) were identified. Co-morbidities were present in 22 (66%) and 15 (45%) were on growth-hormone therapy. Six patients (19%) had normal testes palpable in the scrotum; twenty-seven (81%) had undescended testes and required orchidopexy. Thirteen (48%) underwent a bilateral procedure for a total of 40 procedures. A 2-stage Fowler-Stephens orchidopexy was required in 2 (7%) testes. At surgery hypotrophic testes were documented in 6 (22%) patients. Age at orchidopexy was 1.4 years (0.5–5.5). Age at FU was 7.2 years (1.7–17). Length of follow-up is 3.5 years (0.4–14). At follow-up 16 (40%) testes were of normal size and palpable in the scrotum; 7 (17.5%) testes required redo-orchidopexy. All patients (6/33) over 16 years of age that had testosterone levels tested had values below normal limits after successful orchidopexy.ConclusionsThis study evaluates the results of orchidopexy in a large population of children with PWS. At follow-up, only 40% of testes were of normal size and in the scrotum. This information should be taken into consideration for patients' management and pre-operative parents' counseling.

KW - Fertility

KW - Orchidopexy

KW - Prader-Willi

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