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Open access

Sakina Kherra, Wendy Forsyth Paterson, Filiz Mine Cizmecioglu, Jeremy Huw Jones, Mariam Kourime, Heba Hassan Elsedfy, Sameh Tawfik, Andreas Kyriakou, Mohamad Guftar Shaikh, and Malcolm David Cairns Donaldson


Hypogonadism is a key feature of Prader–Willi syndrome (PWS) but clear strategies for hormone replacement are lacking.


To evaluate the gonadal status and outcome in patients attending a Scottish PWS clinic from 1991 to 2019.


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.


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.


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.

Open access

Jennifer K Y Ko, Thomas F J King, Louise Williams, Sarah M Creighton, and Gerard S Conway

. 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

Open access

Anita Hokken-Koelega, Aart-Jan van der Lely, Berthold Hauffa, Gabriele Häusler, Gudmundur Johannsson, Mohamad Maghnie, Jesús Argente, Jean DeSchepper, Helena Gleeson, John W Gregory, Charlotte Höybye, Fahrettin Keleştimur, Anton Luger, Hermann L Müller, Sebastian Neggers, Vera Popovic-Brkic, Eleonora Porcu, Lars Sävendahl, Stephen Shalet, Bessie Spiliotis, and Maithé Tauber

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

Open access

Sarah Ying Tse Tan, Hong Chang Tan, Ling Zhu, Lih Ming Loh, Dawn Shao Ting Lim, Du Soon Swee, Yoke Ling Chan, Huee Boon Lim, Shiau Lee Ling, En Jun Ou, Wynn Ee Teo, Xiao Ping Zhang, Hui Fen Goh, and Peng Chin Kek

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