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Aim In children with Prader‐Willi syndrome (PWS), growth hormone (GH) improves height and body composition; however, may be associated with worsening sleep‐disordered breathing (SDB). Some studies have reported less SDB after GH initiation, but follow‐up with polysomnography is still advised in most clinical guidelines. Methods This retrospective, multicentre study, included children with PWS treated with GH at seven PWS treatment centres in Australia over the last 18 years. A paired analysis comparing polysomnographic measures of central and obstructive SDB in the same child, before and after GH initiation was performed with Wilcoxon signed‐rank test. The proportion of children who developed moderate/severe obstructive sleep apnoea (OSA) was calculated with their binomial confidence intervals. Results We included 112 patients with available paired data. The median age at start of GH was 1.9 years (range 0.1–13.5 years). Median obstructive apnoea hypopnoea index (AHI) at baseline was 0.43/h (range 0–32.9); 35% had an obstructive AHI above 1.0/h. Follow‐up polysomnography within 2 years after the start of GH was available in 94 children who did not receive OSA treatment. After GH initiation, there was no change in central AHI. The median obstructive AHI did not increase significantly (P = 0.13), but 12 children (13%, CI95% 7–21%) developed moderate/severe OSA, with clinical management implications. Conclusions Our findings of a worsening of OSA severity in 13% of children with PWS support current advice to perform polysomnography after GH initiation. Early identification of worsening OSA may prevent severe sequelae in a subgroup of children.

BackgroundDifferences/disorders of sex development (DSD) or 'intersex' encompass a broad range of congenital variations in the complex pathways involved in the development of sex characteristics. Components of these pathways include sex chromosomes, genes involved in gonadal development, hormone production and action, and the development of internal and external genital structures. Many variations are rare, and some (eg congenital adrenal hyperplasia) are associated with urgent medical needs. People born with variations in sex characteristics may present in the neonatal period with atypical genitalia, during childhood and adolescence with atypical pubertal development or in adulthood with hormone imbalance, fertility issues and/or sexual health concerns. ObjectiveAn overview of DSD is presented in relation to presenting features and management challenges in the paediatric population. DiscussionAn experienced multidisciplinary team that uses a shared decision-making approach with a medical, surgical, ethical, psychological and human rights framework is required to maximise longterm positive outcomes for people born with variations in sex characteristics.DIFFERENCES/DISORDERS of sex development (DSD) or 'intersex' encompass a wide range of conditions usually presenting in the newborn period or adolescence. Most are relatively rare, and the overall incidence depends on which conditions are included; for example:• Klinefelter syndrome (47,XXY) -one in 450 births of male infants 1 • discordance between phenotypic and genotypic sex at birth -one in 4500-5500 births 2

Prader‐Willi syndrome (PWS) is a rare genetic condition with multi‐system involvement. The literature was reviewed to describe neurodevelopment and the behavioural phenotype, endocrine and metabolic disorders and respiratory and sleep functioning. Implications for child and family quality of life were explored. Challenging behaviours contribute to poorer well‐being and quality of life for both the child and caregiver. Recent evidence indicates healthy outcomes of weight and height can be achieved with growth hormone therapy and dietary restriction and should be the current target for all individuals with PWS. Gaps in the literature included therapies to manage challenging behaviours, as well as understanding the effects of growth hormone on respiratory and sleep function. New knowledge regarding the transition of children and families from schooling and paediatric health services to employment, accommodation and adult health services is also needed. Developing a national population‐based registry could address these knowledge gaps and inform advocacy for support services that improve the well‐being of individuals with PWS and their families.