Hypogonadism in the Prader-Willi syndrome from birth to adulthood: a 28-year experience in a single centre

Kherra, S., Forsyth Paterson, W., Cizmecioğlu, F. M., Jones, J. H., Kourime, M., Elsedfy, H. H., Amer, S. T., Kyriakou, A., Shaikh, M. G. and Donaldson, M. D. C. (2021) Hypogonadism in the Prader-Willi syndrome from birth to adulthood: a 28-year experience in a single centre. Endocrine Connections, 10(9), pp. 1134-1146. (doi: 10.1530/ec-21-0277) (PMID:34382580) (PMCID:PMC8494419)

Abstract

Background. Hypogonadism is a key feature of Prader–Willi syndrome (PWS) but clear strategies for hormone replacement are lacking. Objective. To evaluate the gonadal status and outcome in patients attending a Scottish PWS clinic from 1991 to 2019. Methods. In 93 (35F:56M) patients, median follow-up 11.2 years, gonadal and pubertal status were assessed clinically. Pelvic ultrasound findings and basal/stimulated gonadotrophins were compared with age-matched controls. Results. Females:of 22 patients aged > 11, 9 had reached B4–5, while 5 were still at B2–3, and 6 remained prepubertal. Eight patients experienced menarche aged 9.8–21.4 years, none with a normal cycle. Uterine length and ovarian volumes were normal but uterine configuration remained immature, with low follicular counts. Gonadotrophins were unremarkable, serum oestradiol 129 (70–520) pmol/L. Only 5 patients received oestrogen replacement. Males:fifty-four (96%) patients were cryptorchid (9 unilateral). Weekly hCG injections resulted in unilateral/bilateral descent in 2/1 of 25 patients. Of 37 boys aged > 11, 14 (9 with failed/untreated bilateral cryptorchidism) failed to progress beyond G1, 15 arrested at G2–3 (testes 3–10 mL), and 8 reached G4–5. Gonadotrophins were unremarkable except in boys at G2–5 in whom FSH was elevated: 12.3/27.3 vs 3.25/6.26 U/L in controls (P < 0.001). In males aged > 13, testosterone was 3.1 (0.5–8.4) nmol/L. Androgen therapy, given from 13.5 to 29.2 years, was stopped in 4/24 patients owing to behavioural problems. Conclusion. Despite invariable hypogonadism, few females and only half the males with PWS in this study received hormone replacement. Double-blind placebo-controlled crossover trials of sex steroids are required to address unproven behavioural concerns.

• Item Type: Articles
• Additional Information: ** From Crossref journal articles via Jisc Publications Router
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Shaikh, Dr Mohammed Guftar
• Authors: Kherra, S., Forsyth Paterson, W., Cizmecioğlu, F. M., Jones, J. H., Kourime, M., Elsedfy, H. H., Amer, S. T., Kyriakou, A., Shaikh, M. G., and Donaldson, M. D. C.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: Endocrine Connections
• Publisher: Bioscientifica
• ISSN: 2049-3614
• ISSN (Online): 2049-3614
• Published Online: 12 August 2021
• Copyright Holders: Copyright © 2021 The Author(s)
• First Published: First published in Endocrine Connections 10:1134–1146
• Publisher Policy: Reproduced under a creative commons licence