Orchidopexy in children with Prader–Willi syndrome: Results of a long-term follow-up study
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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Cited by (9)
Management of the undescended testis in children: An American Pediatric Surgical Association Outcomes and Evidence Based Practice Committee Systematic Review
2022, Journal of Pediatric SurgeryCitation Excerpt :Despite these recommendations, there were 48 published studies that reported a majority of orchiopexies are done well outside of these age ranges. Reasons cited for non-adherence to established guidelines include (i) a lack of knowledge in primary care physicians [46,47,49,50,52,55,57,59,61-66,68-70,72-75,77,82-84,86,88,89,91,92], (ii) children in lower socio-economic settings with poor access to health care [67,85], (iii) children in rural areas where referral to subspecialty care is less available [45,54,56,60,67,70,76,81,85], (iv) public insurance with poor health care access [55,62,80,85], (v) children in whom testicular descent was documented early in life but noted at a later age to have an ascending testis [48,51,78,90,92], (vi) attempts at hormonal treatment prior to surgical referral [44,71], and (vii) neurologically impaired children with less attention to testicular physical exam [58,79,87]. Five studies demonstrated improved adherence to the guidelines following intensive education to primary care providers [48,53,59,61,83], while two studies showed no improvement in early referral despite knowledge of the guidelines [84,86].
Fertility Issues in Pediatric Urology
2018, Urologic Clinics of North AmericaCitation Excerpt :Later age at definitive surgical repair has also been found to correlate with more abnormal hormone (FSH and LH) levels and abnormal semen analyses in adulthood.109 Importantly, children with syndromes associated with increased risk of cryptorchidism (eg, Prader-Willi syndrome) may be at increased risk of fertility issues despite surgical treatment in keeping with current best practices.110 In the past, hormonal treatment with hCG or gonadotropin-releasing hormone (GnRH) was offered as a nonsurgical option for treatment of undescended testicles; however, this approach is no longer recommended to facilitate descent,108 although GnRH has been shown to be associated with changes in the expression of genes within the hypothalamic-pituitary-gonadal axis, which directly influences fertility.111
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