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Sakina Kherra CHU Parnet Hopital, Algiers, Algeria

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Wendy Forsyth Paterson Royal Hospital for Sick Children, Yorkhill, Glasgow, UK

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Filiz Mine Cizmecioglu Paediatric Endocrinology and Diabetes Department, Kocaeli University, Kocaeli, Turkey

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Jeremy Huw Jones Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Mariam Kourime Abderrahim Harouchi Hôpital, Casablanca, Morocco

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Heba Hassan Elsedfy Pediatrics Department, Ain Shams University, Cairo, Egypt

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Sameh Tawfik Department of Pediatrics, Maadi Hospital, Cairo, Egypt

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Andreas Kyriakou Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Mohamad Guftar Shaikh Department of Pediatric Endocrinology, Royal Hospital for Children Glasgow, NHS Greater Glasgow and Clyde, Glasgow, UK

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Malcolm David Cairns Donaldson Section of Child Health, Glasgow University School of Medicine, Glasgow, UK

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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.

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0277
Volume/Issue:
Volume 10: Issue 9
Open access
Jennifer K Y Ko Department of Women’s Health, University College London Hospital, London, UK

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Thomas F J King Department of Women’s Health, University College London Hospital, London, UK

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Louise Williams Department of Women’s Health, University College London Hospital, London, UK

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Sarah M Creighton Department of Women’s Health, University College London Hospital, London, UK

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Gerard S Conway Department of Women’s Health, University College London Hospital, London, UK

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. In a small double-blind crossover study, there was no difference in psychosexual functioning in 4 women with CAIS using either androgen or oestrogen therapy for 4 weeks ( 9 ). A trial comparing the clinical and metabolic effects of testosterone and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0083
Volume/Issue:
Volume 6: Issue 6
Open access
Anita Hokken-Koelega Erasmus University Medical Centre, Rotterdam, The Netherlands

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Aart-Jan van der Lely Erasmus University Medical Centre, Rotterdam, The Netherlands

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Berthold Hauffa University Children’s Hospital, Essen, Germany

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Gabriele Häusler Medical University and General Hospital of Vienna, Vienna, Austria

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Gudmundur Johannsson Sahlgrenska University Hospital, Göteborg, Sweden

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Mohamad Maghnie Istituto Giannina Gaslini, University of Genova, Genova, Italy

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Jesús Argente Hospital Infantil Universitario Niño Jesús, Madrid, Spain

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Jean DeSchepper University Hospital Brussels, Brussels, Belgium

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Helena Gleeson Queen Elizabeth Hospital, Birmingham, UK

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John W Gregory Cardiff University School of Medicine, Cardiff, UK

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Charlotte Höybye Department of Molecular Medicine and Surgery, Karolinska Institute and Department of Endocrinology, Metabolism and Diabetology, Karolinska University Hospital, Stockholm, Sweden

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Fahrettin Keleştimur Department of Endocrinology, School of Medicine, Erciyes University, Kayseri, Turkey

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Anton Luger Sahlgrenska University Hospital, Göteborg, Sweden

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Hermann L Müller Department of Pediatrics, Klinikum Oldenburg, Medical Campus University Oldenburg, Oldenburg, Germany

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Sebastian Neggers University Children’s Hospital, Essen, Germany

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Vera Popovic-Brkic Belgrade University School of Medicine, Belgrade, Serbia

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Eleonora Porcu University of Bologna, Bologna, Italy

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Lars Sävendahl Department of Women’s and Children’s Health, Karolinska Institutet, and Pediatric Endocrinology Unit, Karolinska University Hospital, Stockholm, Sweden

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Stephen Shalet The Christie Hospital, Manchester, UK

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Bessie Spiliotis University of Patras School of Medicine, Patras, Greece

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Maithé Tauber Hôpital des Enfants, Toulouse, France

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is to begin oestrogen therapy around the ages of 11–12 years in the presence of suspected ovarian failure. Additional data are needed to determine the optimal dosage or whether starting oestrogen therapy earlier would convey additional benefit. Growth

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-16-0028
Volume/Issue:
Volume 5: Issue 6
Open access
Sarah Ying Tse Tan Department of Endocrinology, Singapore General Hospital, Singapore

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Hong Chang Tan Department of Endocrinology, Singapore General Hospital, Singapore

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Ling Zhu Department of Endocrinology, Singapore General Hospital, Singapore

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Lih Ming Loh Department of Endocrinology, Singapore General Hospital, Singapore

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Dawn Shao Ting Lim Department of Endocrinology, Singapore General Hospital, Singapore

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Du Soon Swee Department of Endocrinology, Singapore General Hospital, Singapore

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Yoke Ling Chan Department of Speciality Nursing, Singapore General Hospital, Singapore

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Huee Boon Lim Department of Speciality Nursing, Singapore General Hospital, Singapore

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Shiau Lee Ling Department of Speciality Nursing, Singapore General Hospital, Singapore

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En Jun Ou Department of Speciality Nursing, Singapore General Hospital, Singapore

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Wynn Ee Teo Department of Speciality Nursing, Singapore General Hospital, Singapore

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Xiao Ping Zhang Department of Speciality Nursing, Singapore General Hospital, Singapore

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Hui Fen Goh Department of Speciality Nursing, Singapore General Hospital, Singapore

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Peng Chin Kek Department of Endocrinology, Singapore General Hospital, Singapore

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diagnosis of AI. This occurs in patients with critical illness, chronic liver disease, and hypoalbuminaemia, which reduce cortisol binding, as well as pregnancy and oral oestrogen therapy, which increase cortisol binding ( 6 , 7 , 8 , 9 ). In these cases

Article Type:
Research Article
Collections:
Adrenal
DOI:
https://doi.org/10.1530/EC-23-0004
Volume/Issue:
Volume 12: Issue 4
Open access
M Guftar Shaikh Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

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Timothy G Barrett Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK
Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK

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Nicola Bridges Department of Paediatric Endocrinology, Chelsea and Westminster Hospital, London, UK

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Robin Chung Research Working Group, Prader-Willi Syndrome Association, Northampton, UK

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Evelien F Gevers Department of Paediatric Endocrinology, Barts Health NHS Trust, Royal London Hospital, London, UK
Centre for Endocrinology, William Harvey Research Institute, Barts and The London Medical School, Queen Mary University of London, London, UK

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Anthony P Goldstone PsychoNeuroEndocrinologyResearch Group, Division of Psychiatry, Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK
Department of Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital, London, UK

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Anthony Holland Department of Psychiatry, University of Cambridge, Cambridge, UK

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Shankar Kanumakala Royal Alexandra Children’s Hospital, Brighton, UK

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Ruth Krone Department of Endocrinology, Birmingham Womens and Children’s Hospital, Birmingham, UK

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Andreas Kyriakou Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Department of Paediatric Endocrinology, Makarios Children's Hospital, Nicosia, Cyprus

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E Anne Livesey Royal Alexandra Children’s Hospital, Brighton, UK
Sussex Community NHS Trust, Brighton, UK

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Angela K Lucas-Herald Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, UK
Developmental Endocrinology Research Group, University of Glasgow, Glasgow, UK

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Christina Meade CHI at Tallaght University Hospital, Dublin, Republic of Ireland

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Susan Passmore Prader-Willi Syndrome Association, Northampton, UK

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Edna Roche CHI at Tallaght University Hospital, Dublin, Republic of Ireland
The University of Dublin, Trinity College Dublin, Dublin, Republic of Ireland

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Chris Smith Royal Alexandra Children’s Hospital, Brighton, UK

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Sarita Soni Learning Disability Psychiatry, NHS Greater Glasgow and Clyde, Glasgow, UK

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precocious puberty also reported, further pubertal development is often delayed and menarche may occur much later ( 113 , 114 , 124 , 125 , 126 ). Initiation of oestrogen therapy is recommended when there is either failure to enter puberty or mid

Article Type:
Other
Collections:
Obesity
DOI:
https://doi.org/10.1530/EC-24-0091
Volume/Issue:
Volume 13: Issue 8
Open access