Elsevier

Journal of Pediatric Urology

Volume 14, Issue 1, February 2018, Pages 63.e1-63.e6
Journal of Pediatric Urology

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

https://doi.org/10.1016/j.jpurol.2017.10.003Get rights and content

Summary

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 Fsingle bondU 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.

Findings at follow-up (40 testes)Number (%)
Normal testes in scrotum16 (40)
Hypotrophic testes in scrotum8 (20)
Testes in inguinal canal10 (25)
Non-palpable testes4 (10)
Atrophic testes in scrotum2 (5)
Redo-orchidopexy7 (17.5)

Introduction

Prader–Willi syndrome (PWS) is a rare genetic condition, first described in 1956 [1]; there are three main genetic subtypes: paternal 15q11–q13 deletion (65–75% of cases), maternal uniparental disomy 15 (20–30% of cases), and imprinting defect (1–3%) [2]. The syndrome has an incidence of 1:20.000 and affects both males and females. Key clinical features in both males and females include cognitive disabilities with various degrees of mental retardation, autonomic dysregulation, behavioral and eating disorders (with increased caloric intake leading to severe obesity), hypogonadism with delayed puberty and infertility. Hypogonadism has been classically thought to be hypothalamic in etiology. However, in boys, recent evidence confirms primary testicular dysfunction is a major contributor to abnormal pubertal development and infertility and it becomes apparent after the onset of puberty [3], [4].

In male neonates the penis may be small and the scrotum hypoplastic, poorly rugated and pigmented; cryptorchidism, compared to the general population, where it occurs in approximately 3% of term male infants, has a very high incidence in children with PWS and is present in 86–100% of cases [3].

Orchidopexy is generally advocated in patients with PWS but at present there are no large studies that have focused on the results after surgery. The aim of the present study was to appraise the results of orchidopexy in this selected population of children.

Section snippets

Patients and methods

We performed a follow-up study on children with PWS treated for undescended testes over a 20-year period at the Royal Children's Hospital in Melbourne, Australia. Ethical approval was obtained from the local ethics committee (number DA005-2013-06).

Patients were identified from the Victorian Prader–Willi Syndrome Register. The Register is maintained by The Royal Children's Hospital which collects basic information about patients with PWS born or living in the state of Victoria. Data of male

Results

At the time of the study the PWS Register contained 186 patients (Fig. 1). There was a slightly higher prevalence of male subjects (male/female ratio = 1.27/1). Seventy-one patients were over 17 years of age and not available at follow-up, therefore excluded from further analysis. Thirty-three boys (6 months – 17 years) were available at follow-up (Fig. 2); twenty-seven (81%) out of the 33 had undergone orchidopexy and are the subject of this study. Thirteen (48%) had a bilateral orchidopexy

Discussion

PWS is a rare condition affecting both males and females. In boys, cryptorchidism is almost always present, often associated with small testes and scrotal hypoplasia, and majority of patients will require unilateral or bilateral orchidopexy. We believe that this population of children presents specific challenges that might affect the results of surgery. We will discuss our findings with a brief literature review in order to provide clinicians and families with evidence to take an informed

Ethical approval

Ethical approval was obtained the local ethics committee (number DA005-2013-06).

Funding

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.

Conflicts of interest

None.

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