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.
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).
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 F U 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.
|Findings at follow-up (40 testes)||Number (%)|
|Normal testes in scrotum||16 (40)|
|Hypotrophic testes in scrotum||8 (20)|
|Testes in inguinal canal||10 (25)|
|Non-palpable testes||4 (10)|
|Atrophic testes in scrotum||2 (5)|
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to Journal of Pediatric Urology
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Ein syndrome von adipositas, kleinwuchs, cryptorchisms und oligophrenie nach myatonieartigem Zustand im neugeborenenalter.Schweiz Med Wochenschr. 1956; 86: 1260-1261
- Prader-Willi syndrome: a primer for clinicians.Int J Pediatr Endocrinol. 2011; 2011: 12
- Hypogonadism and pubertal development in Prader-Willi syndrome.Eur J Pediatr. 2003; 162: 327-333
- Testicular failure in boys with Prader-Willi syndrome: longitudinal studies of reproductive hormones.J Clin Endocrinol Metab. 2012; 97: E452-E459
- Testicular size: assessment and clinical importance.Triangle Sandoz J Med Sci. 1966; 7: 240-243
- Scrotal incision orchiopexy for undescended testis.Urology. 2004; 64: 1216-1218
- Surgical outcome of orchiopexy. I. Previously unoperated testes.Br J Urol. 1992; 70: 90-94
- Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome.J Clin Endocrinol Metab. 2009; 94: 2262-2268
- Testes in infants with Prader-Willi syndrome: human chorionic gonadotropin treatment, surgery and histology.J Urol. 2015; 193: 291-298
- Clinical report-health supervision for children with Prader-Willi syndrome.Pediatrics. 2011; 127: 195-204
- Normative values for testicular volume measured by ultrasonography in a normal population from infancy to adolescence.Hormone Res Paediatr. 2011; 76: 56-64
- Testicular histology in boys with Prader-Willi syndrome: fertile or infertile?.J Urol. 2008; 180: 1800-1804
- Management of cryptorchism and risk of testicular cancer.Am J Epidemiol. 2003; 157: 602-605
- Testicular cancers in children: epidemiologic characteristics.J Natl Cancer Inst. 1972; 48: 1575-1581
- Clinical behavior and a contemporary management algorithm for prepubertal testis tumors: a summary of the Prepubertal Testis Tumor Registry.J Urol. 2002; 168: 1675-1678
- Prader Willi syndrome and testicular tumour.Clin Oncol R Coll Radiologists (Great Britain). 1990; 2: 117
- Prader-Willi syndrome and intratubular germ cell neoplasia.Med Pediatr Oncol. 1999; 32: 73-74
- Prader-Willi and Angelman syndromes: sister imprinted disorders.Am J Med Genet. 2000; 97: 136-146
- Anaesthetic considerations in the Prader-Willi syndrome: report of four cases.Can Anaesth Soc J. 1983; 30: 179-184
- Near demise of a child with Prader-Willi syndrome during elective orchidopexy.Paediatr Anaesth. 2006; 16: 790-793
- Anesthesia and Prader-Willi syndrome: preliminary experience with regional anesthesia.Paediatr Anaesth. 2006; 16: 712-722
- Anaesthetic management of the Prader-Willi syndrome.Eur J Anaesthesiol. 2004; 21: 831-833
- The impact of growth hormone/insulin-like growth factor-I axis and nocturnal breathing disorders on cardiovascular features of adult patients with Prader-Willi syndrome.J Clin Endocrinol Metab. 2005; 90: 5639-5646
- Rumination risk of aspiration of gastric contents in the Prader-Willi syndrome.Anesth Analg. 1991; 73: 492-495
Published online: October 15, 2017
Accepted: October 5, 2017
Received: March 18, 2017
© 2017 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.