Endocrine Abstracts

Background and Aims: Acromegaly is an insidious disease related to hypersecretion of growth hormone (GH) that leads to several cardiovascular, respiratory, and metabolic comorbidities. The onset of dysmorphic body changes is one of the earliest signs of this condition. The objective of the current work was to describe the clinical manifestations of dysmorphic modifications characterizing Mediterranean patients diagnosed with acromegaly.

Patients and Method: We conducted a retrospective study that included all patients diagnosed with acromegaly who have been followed up, from 1997 to 2021, at the Endocrinology Department of Hedi Chaker University Hospital, Sfax, Tunisia. The review of medical charts provided a detailed description of dysmorphic features in the investigated population.

Results: Our sample included 29 with a mean age at diagnosis of 45.8 ± 12.4 years old (extremes: 23-72). No significant gender differences was reported (sex-ratio = 1.07). Dysmorphic features were observed in all patients with variable degrees. Patients diagnosed with acromegaly presented with facial changes in 96.5% of cases. Cranial ridges (41.1%), frontal skull bossing (48.3%), and enlarged nose (75.9%) were frequently recorded. Similarly, jaw and oral deformities were very common among the studies population such as prognathism (72.4%), enlarged lips (55.2%), and mandibular overgrowth with maxillary widening and teeth separation (37.9%). Macroglossia was found in 48.3% of cases. Acral modifications occurred in more than 80% with swelling thin-skinned hands in 51.7% and enlarged shoe size in 82.8% of cases. Skeletal axial involvement was present in 24.1% including kyphoscoliosis and diffuse skeletal hyperostosis.

Conclusion: Comorbidity and mortality rates in acromegaly are significantly higher compared with healthy subjects due to its delayed diagnosis and therapeutic difficulties [1]. Unlike North America and Northern Europe, acromegaly remains largely underdiagnosed, especially in the southern Mediterranean countries. Dysmorphic modifications are one of the earliest symptoms of this disease [2]. Raising awareness about acromegaly and its dysmorphic syndrome in the general population and among physicians in the Mediterranean region could aid in the early detection of undiagnosed cases.

References: 1. Colao, Annamaria, et al. ‘Acromegaly.’ Nature Reviews Disease Primers 5.1 (2019): 1-17. 2. Lavrentaki, Aikaterini, et al. ‘Epidemiology of acromegaly: review of population studies.’ Pituitary 20.1 (2017): 4-9.