Hypothalamic Dysfunction In Childhood; Understanding Its Etiology And Developing New Ways To Improve Outcome Of Children With Genetic Or Acquired Causes Of Hypothalamic Dysfunction

On Friday 7 and Saturday 8 October 2022, the 3rd ESPE Science Symposium on the topic of Hypothalamic Dysfunction in childhood : etiology, consequences and new ways of management to improve outcome was delivered by Associate ProfessorHanneke van Santen and her programme organizing committee at the Princess Máxima Center, Utrecht, The Netherlands.

The meeting was organized as live meeting, which was an excellent way to communicate, meet and discuss. At the symposium, hypothalamic dysfunction was discussed from all different angles; genetic, congenital and acquired. This was a unique setting in which knowledge and expertise of all different fields could be exchanged. The symposium was of top level, with excellent speakers, all internationally acknowledged scientists in the field of hypothalamic dysfunction. There were around 80 participants from around the world, who actively participated in inspiring discussions. Eleven young investigators used the opportunity to join the meeting for free.

The science symposium consisted of six symposia covering all aspects of hypothalamic dysfunction, from etiology to treatment to networking and European collaboration. You can view the programme here.

The symposium opened with an inspiring lecture from Professor Dick Swaab who elaborated on the hypothalamus from an evolutionary point of view. Dr Hoong-Wei Gan provided a wonderful overview of all Appetite-regulating hormones in hypothalamic obesity. This was followed by a wonderful lecture of professor Dattani, who spoke about Congenital Disorders of Hypothalamic Dysfunction associated with Hypopituitarism.

Professor Maithe Tauber spoke upon the children with Prader-Willi syndrome, and how these children are a model to understand and treat hypothalamic dysfunction. It was wonderful to discuss and compare these children to children with acquired hypothalamic dysfunction, in whom the same pattern may be recognized of diencephalic syndrome evolving into hypothalamic obesity.

Professor Hermann Muller shared his great knowledge on hypothalamic dysfunction in children with craniopharyngioma, followed by Professor Kelestimur who learned us that the hypothalamus is very vulnerable and may be damaged after repetitive brain injury. Autoimmune hypothalamitis is a very rare disease, but has been described in adults and may be an entity that deserves further exploration also during childhood.

Dr Geert Janssens shared the results of a European survey amongst radiation oncologists and, surprisingly, illustrated that there is little consensus upon the effects of radiation on hypothalamic outcome.

Professor Eelco Hoving shared a beautiful video to illustrate the challenges for a neuro-surgeon on how to preserve the hypothalamus in children with craniopharyngioma and how delicate this area is. In the evening we had a wonderful Dutch dinner and time to discuss and connect.

On Saturday the focus was on management of hypothalamic dysfunction in childhood. There is currently no effective treatment for hypothalamic dysfunction yet and Hanneke van Santen shared a personalized treatment algorithm by which patients with hypothalamic dysfunction can be systematically treated along 6 clinical domains. She illustrated that in many cases not all aspects ( such as temperature dysregulation, sleep, energy expenditure) of hypothalamic dysfunction are addressed yet, but that this is essential for optimal management. One of the main important adverse outcomes for patients is the hypothalamic obesity, associate professor Erica van den Akker spoke about the treatment of hypothalamic obesity (genetic or acquired) and discussed the importance of combined life style intervention, new upcoming drugs and the developments in bariatic surgery.

The symposium continued with an inspiring talk of professor Nienke Biermasz, chair MTG6 of the ENDO-ERN who discussed the importance of networking and ENDO-ERN for rare diseases such as hypothalamic syndrome. Johan de Graaf, chair of the Dutch Pituitary Patient Association and ePAG representative ENDO-ERN, MTG6, continued with the results of a survey amongst the “unmet needs” of patients with acquired hypothalamic dysfunction. It was clear that most patients have difficulties with their weight and chronic fatigue and that in multiple domains management needs improvement.

Lastly, there was a very interesting panel discussion, involving all participants and experts. It was concluded that it is actually surprising that the hypothalamus, being such as old an important organ for the humans balance, has had relatively little attention. In the different endocrine societies hypopituitarism is often discussed, but hypothalamic dysfunction may be put more often on the agenda. Together with all experts, it was decided to start a Hypothalamic Network, aiming to increase awareness of hypothalamic dysfunction with the ultimate goal to better understand this rare disease and to improve its management. In addition, plans were made for building new networks and collaboration within ESPE and Europe, together with the patient organizations and ENDO-ERN.

The organizers would like to thank ESPE and all sponsors for financial support and all speakers for their contribution and the moderators for guiding us through the programme.