ESPE Abstracts

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the differences between the two, in order to improve recognition of overgrowth syndromes (OS) among general practitioners, internists and pediatricians. Whereas patients with acromegaly benefit from endocrine treatment, OS patients need multidisciplinary care due to the associated organ and hormone problems and neuropsychological phenotype. Therefore, it’s crucial to refer patients with OS for multidisciplinary care once acromegaly is ruled out. Unfortunately, this is often not done. We provide a systematic approach to guarantee appropriate care for this vulnerable and complex patient group. Even though this approach is focused on adults, increasing awareness of overgrowth syndromes amongst pediatricians is of even greater importance since appropriate diagnosis and care earlier in life prevents health problems in adults.

Methods: We present a case series of adult patients visiting our outpatient clinic for ‘acromegaly’, from presentation to diagnosis. We describe the diagnostic challenges and illustrate the added value of multidisciplinary treatment, initiated once patients were diagnosed with overgrowth syndromes. Additionally, we conducted a systematic review of the literature on overgrowth syndromes.

Results: The patients presented with acromegaloid characteristics without growth hormone/IGF-1 axis abnormalities. Endocrine and genetic work-up ruled out acromegaly and revealed mutations in CHD8. Neuropsychological assessment revealed a mild intellectual disability in one of the patients, which had remained unnoticed for years due to relatively strong verbal performance. To initiate ID support, the patient was referred to the physician for intellectual disabilities. Based on our own expertise in combination with the existing literature, we made an algorithm to improve diagnostics and management of adults with overgrowth syndromes. Multidisciplinary care is often necessary due to the physical and neuropsychological problems associated with some overgrowth syndromes.

Conclusions: When a patient presents with acromegalic features in the presence of normal IGF-1, the diagnosis of overgrowth syndromes should be considered as underlying condition. As overgrowth syndromes may be associated with neurodevelopmental delay, we recommend to screen for mild ID and refer patient for multidisciplinary management to prevent the complications of undiagnosed ID.