Endocrine Abstracts

Background: A common request at an endocrine outpatient clinic is to rule out acromegaly in a patient with acromegaloid features. It is important to do so, since the excessive excretion of growth hormone can result in various serious comorbidities. But when growth hormone-IGF-1 axis abnormalities are excluded, the physician faces a diagnostic dilemma. Here we provide a systematic approach to these patients.

Methods: We present a case series of 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. Due to their physical and neuropsychological problems associated with some overgrowth syndromes, multidisciplinary care is often necessary.

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.