Approach to the Patient With Pseudoacromegaly

Area of Science:

• Endocrinology
• Medical Genetics
• Rare Diseases

Background:

• Pseudoacromegaly describes conditions mimicking acromegaly or gigantism without hormonal excess (GH/IGF-1).
• Clinical presentation can include acromegaloid features or accelerated growth, leading to endocrinologist referral.
• Diagnosis is often challenging due to rarity, heterogeneity, and overlapping symptoms.

Purpose of the Study:

• To highlight the diagnostic challenges of pseudoacromegaly.
• To emphasize the importance of recognizing rare genetic syndromes.
• To promote collaboration between specialists for timely diagnosis.

Main Methods:

• Review of clinical features associated with pseudoacromegaly.
• Identification of key genetic syndromes causing pseudoacromegaly.
• Emphasis on differential diagnosis and specialist collaboration.

Main Results:

• Pseudoacromegaly is a heterogeneous group of disorders.
• Genetic conditions like pachydermoperiostosis, Sotos syndrome, Weaver syndrome, and Cantú syndrome are key causes.
• Timely recognition relies on awareness of characteristic features.

Conclusions:

• Awareness of rare pseudoacromegaly conditions is crucial for prompt diagnosis.
• Collaboration with clinical geneticists is essential for managing these complex cases.
• Early identification improves patient outcomes by enabling appropriate management.