Osteoartrite, geno valgo e densidade mineral óssea na deficiência isolada genética do hormônio do crescimento

Abstract

The GH/IGF-I axis is important for bone growth, but its effects on joint function are not completely understood. Adult onset GH deficient (GHD) individuals have often reduced bone mineral density (BMD). However, there are limited data on BMD in adult patients with untreated congenital isolated GHD (IGHD). We have shown that adult IGHD individuals from the Itabaianinha, homozygous for the c.57+1G>A GHRHR mutation, have reduced bone stiffness, but BMD and joint status in this cohort are unknown. The objective is to study BMD, joint function, and osteoarthritis score in IGHD adults harboring c.57+1G > A GHRHR mutation, previously untreated. It was performed a cross-sectional study. Areal BMD by dual-energy X-ray absorptiometry was measured in 25 IGHD and 23 controls. Volumetric BMD (vBMD) was calculated at the lumbar spine and total hip. Joint function was assessed by goniometry of elbow, hips and knees. X rays were used to measure the anatomic axis of knee and the severity of osteoarthritis, using a classification for osteophytes (OP) and joint space narrowing (JSN). Genu valgum was more prevalent in IGHD than controls. The osteoarthritis knees OP score was similar in both groups, and knees JSN score showed a trend to be higher in IGHD. The hips OP score, and JSN score were higher in IGHD. Areal BMD was lower in IGHD than controls, but vBMD was similar in the two groups. Range of motion was similar in elbow, knee and hip in IGHD and controls. Untreated congenital IGHD due inactivating GHRHR mutation causes hip joint osteoarthritis problems and genu valgum, without apparent clinical significance, reduces bone size but does not reduce vBMD of the lumbar spine and hip.