Hypogonadism in Prader–Willi syndrome from birth to adulthood: a 28-year experience in a single centre
| Autor: | Mohamad Guftar Shaikh, Mariam Kourime, Malcolm Donaldson, Andreas Kyriakou, Heba Elsedfy, Sameh Tawfik, Sakina Kherra, Jeremy Jones, Filiz Mine Çizmecioğlu, Wendy F. Paterson |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Normal cycle
puberty Endocrinology Diabetes and Metabolism Hormone replacement Physiology central hypogonadism pelvic ultrasound Diseases of the endocrine glands. Clinical endocrinology Basal (phylogenetics) orchidopexy oestrogen therapy Endocrinology Follicular phase Internal Medicine Medicine testosterone therapy Testosterone gonadotrophins business.industry Research primary hypogonadism RC648-665 Single centre Androgen Therapy Menarche human chorionic gonadotrophin business prader–willi syndrome cryptorchidism |
| Zdroj: | Endocrine Connections, Vol 10, Iss 9, Pp 1134-1146 (2021) Endocrine Connections |
| ISSN: | 2049-3614 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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