Search Results
Search for other papers by Sakina Kherra in
Google Scholar
PubMed
Search for other papers by Wendy Forsyth Paterson in
Google Scholar
PubMed
Search for other papers by Filiz Mine Cizmecioglu in
Google Scholar
PubMed
Search for other papers by Jeremy Huw Jones in
Google Scholar
PubMed
Search for other papers by Mariam Kourime in
Google Scholar
PubMed
Search for other papers by Heba Hassan Elsedfy in
Google Scholar
PubMed
Search for other papers by Sameh Tawfik in
Google Scholar
PubMed
Search for other papers by Andreas Kyriakou in
Google Scholar
PubMed
Search for other papers by Mohamad Guftar Shaikh in
Google Scholar
PubMed
Search for other papers by Malcolm David Cairns Donaldson in
Google Scholar
PubMed
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.
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
Search for other papers by M Guftar Shaikh in
Google Scholar
PubMed
Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK
Search for other papers by Timothy G Barrett in
Google Scholar
PubMed
Search for other papers by Nicola Bridges in
Google Scholar
PubMed
Search for other papers by Robin Chung in
Google Scholar
PubMed
Centre for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary University of London, London, UK
Search for other papers by Evelien F Gevers in
Google Scholar
PubMed
Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK
Search for other papers by Anthony P Goldstone in
Google Scholar
PubMed
Search for other papers by Anthony Holland in
Google Scholar
PubMed
Search for other papers by Shankar Kanumakala in
Google Scholar
PubMed
Search for other papers by Ruth Krone in
Google Scholar
PubMed
Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus
Search for other papers by Andreas Kyriakou in
Google Scholar
PubMed
Sussex Community NHS Trust, Brighton, UK
Search for other papers by E Anne Livesey in
Google Scholar
PubMed
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK
Search for other papers by Angela K Lucas-Herald in
Google Scholar
PubMed
Search for other papers by Christina Meade in
Google Scholar
PubMed
Search for other papers by Susan Passmore in
Google Scholar
PubMed
The University of Dublin, Trinity College Dublin, Dublin, Republic of Ireland
Search for other papers by Edna Roche in
Google Scholar
PubMed
Search for other papers by Chris Smith in
Google Scholar
PubMed
Search for other papers by Sarita Soni in
Google Scholar
PubMed
Prader–Willi syndrome (PWS) is a rare orphan disease and complex genetic neurodevelopmental disorder, with a birth incidence of approximately 1 in 10,000–30,000. Management of people with PWS requires a multi-disciplinary approach, ideally through a multi-disciplinary team (MDT) clinic with community support. Hypotonia, poor feeding and faltering growth are characteristic features in the neonatal period, followed by hyperphagia and risk of rapid weight gain later in childhood. Children and adolescents (CA) with PWS usually display developmental delay and mild learning disability and can develop endocrinopathies, scoliosis, respiratory difficulties (both central and obstructive sleep apnoea), challenging behaviours, skin picking, and mental health issues, especially into adulthood. This consensus statement is intended to be a reference document for clinicians managing children and adolescents (up to 18 years of age) with PWS. It considers the bio-psycho-social domains of diagnosis, clinical assessment, and management in the paediatric setting as well as during and after transition to adult services. The guidance has been developed from information gathered from peer-reviewed scientific reports and from the expertise of a range of experienced clinicians in the United Kingdom and Ireland involved in the care of patients with PWS.
