Search

Acromegaly is considered an important cause of secondary osteoporosis. However, studies on bone mineral density (BMD) have yielded conflicting results and there are few studies that evaluate an accurate imaging method for early diagnosis of osteoporosis in these patients. The objective of this study was to assess whether entropy and uniformity on computed tomography (CT) scans are useful parameters for optimization of assessment of bone fragility in patients with acromegaly. We included 34 patients and 36 controls matched for age and sex in a cross-sectional study. Patients and controls underwent CT scan of the lumbosacral spine, dual-energy x-ray absorptiometry (DXA) and blood tests. A software was developed to calculate the entropy and uniformity by a region of interest (ROI) of the trabecular bone of the first lumbar vertebra (L1). The acromegalic group presented higher mean bone entropy (6.87 ± 0.98 vs. 6.03 ± 1.68, p = 0.013) and lower mean bone uniformity (0.035 ± 0.704 vs. 0.113 ± 0.205, p = 0.035) than control group. Analyzing only acromegalics, mean bone entropy was higher and bone uniformity was lower in patients with hypogonadism than patients without hypogonadism (7.28 ± 0.36 vs. 6.74 ± 1.08, p = 0.038 and 0.008 ± 0.002 vs. 0.043 ± 0.079, p = 0.031) respectively. Patients with acromegaly presented higher BMD and Z-score in the femoral neck than control group (1.156 ± 0.108 vs. 0.925 ± 0.326 g/cm2, p = 0.043 and 0.6 ± 0.6 vs. −0.05 ± 0.8, p = 0.041, respectively). Entropy was negatively correlated with T-score of the lumbar spine (rp = −0.357, p = 0.033) in control group and uniformity was positively correlated with T-score of the lumbar spine, neck, and total hip, respectively (rp = 0.371, p = 0.031; rp = 0.348, p = 0.043 and rp = 0.341, p = 0.049) in acromegalic group. The study identified that entropy and uniformity are a relevant parameters data in bone fragility assessment in acromegalic patients.

X-linked acro-gigantism (X-LAG) syndrome is a newly described disease caused by microduplications on chromosome Xq26.3 leading to copy number gain of GPR101. We describe the clinical progress of a sporadic male X-LAG syndrome patient with an Xq26.3 microduplication, highlighting the aggressive natural history of pituitary tumor growth in the absence of treatment. The patient first presented elsewhere aged 5 years 8 months with a history of excessive growth for >2 years. His height was 163 cm, his weight was 36 kg, and he had markedly elevated GH and IGF-1. MRI showed a non-invasive sellar mass measuring 32.5 × 23.9 × 29.1 mm. Treatment was declined and the family was lost to follow-up. At the age of 10 years and 7 months, he presented again with headaches, seizures, and visual disturbance. His height had increased to 197 cm. MRI showed an invasive mass measuring 56.2 × 58.1 × 45.0 mm, with compression of optic chiasma, bilateral cavernous sinus invasion, and hydrocephalus. His thyrotrope, corticotrope, and gonadotrope axes were deficient. Surgery, somatostatin analogs, and cabergoline did not control vertical growth and pegvisomant was added, although vertical growth continues (currently 207 cm at 11 years 7 months of age). X-LAG syndrome is a new genomic disorder in which early-onset pituitary tumorigenesis can lead to marked overgrowth and gigantism. This case illustrates the aggressive nature of tumor evolution and the challenging clinical management in X-LAG syndrome.