Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone

Carlos C. Epitácio-Pereira, Gabriella M F Silva, Roberto Salvatori, João A M Santana, Francisco A. Pereira, Miburge B. Gois-Junior, Allan V O Britto, Carla R P Oliveira, Anita H O Souza, Elenilde G. Santos, Viviane C. Campos, Rossana M C Pereira, Eugênia H O Valença, Rita A A Barbosa, Maria Isabel T Farias, Francisco J A De Paula, Taisa V. Ribeiro, Mario C P Oliveira, Manuel H. Aguiar-Oliveira

Research output: Contribution to journalArticle

Abstract

Context: The GH/IGF-I axis is important for bone growth, but its effects on joint function are not completely understood. Adult-onset GH-deficient individuals have often reduced bone mineral density (BMD). However, there are limited data on BMD in adult patients with untreated congenital isolated GH-deficient (IGHD). We have shown that adult IGHD individuals from the Itabaianinha, homozygousfor the c.57+1G>AGHRHRmutation, have reducedbonestiffness, butBMDand joint status in this cohort are unknown. Objective: The goal is to study BMD, joint function, and osteoarthritis score in previously untreated IGHD adults harboring the c.57+1G>A GHRHR mutation. Design: This is a cross-sectional study. Methods: Areal BMD by dual-energy X-ray absorptiometry was measured in 25 IGHD and 23 controls (CO). VolumetricBMD(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). Results: Genu valgum was more prevalent in IGHD than CO. 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 CO, but vBMD was similar in the two groups. Range of motion was similar in elbow, knee, and hip in IGHD and CO. Conclusions: Untreated congenital IGHD due to a GHRHR mutation causes hip joint problems and genu valgum, without apparent clinical significance, reduces bone size, but does not reduce vBMD of the lumbar spine and hip.

Original languageEnglish (US)
JournalJournal of Clinical Endocrinology and Metabolism
Volume98
Issue number11
DOIs
StatePublished - Nov 1 2013

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Genu Valgum
Pituitary Dwarfism
Hip Joint
Bone
Bone Density
Joints
Hip
Osteophyte
Minerals
Mutation
Knee Osteoarthritis
Elbow
Knee
Spine
Bone Development
Photon Absorptiometry
X rays
Knee Joint
Articular Range of Motion
Insulin-Like Growth Factor I

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Endocrinology
  • Biochemistry, medical
  • Endocrinology, Diabetes and Metabolism

Cite this

Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone. / Epitácio-Pereira, Carlos C.; Silva, Gabriella M F; Salvatori, Roberto; Santana, João A M; Pereira, Francisco A.; Gois-Junior, Miburge B.; Britto, Allan V O; Oliveira, Carla R P; Souza, Anita H O; Santos, Elenilde G.; Campos, Viviane C.; Pereira, Rossana M C; Valença, Eugênia H O; Barbosa, Rita A A; Farias, Maria Isabel T; De Paula, Francisco J A; Ribeiro, Taisa V.; Oliveira, Mario C P; Aguiar-Oliveira, Manuel H.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 98, No. 11, 01.11.2013.

Research output: Contribution to journalArticle

Epitácio-Pereira, CC, Silva, GMF, Salvatori, R, Santana, JAM, Pereira, FA, Gois-Junior, MB, Britto, AVO, Oliveira, CRP, Souza, AHO, Santos, EG, Campos, VC, Pereira, RMC, Valença, EHO, Barbosa, RAA, Farias, MIT, De Paula, FJA, Ribeiro, TV, Oliveira, MCP & Aguiar-Oliveira, MH 2013, 'Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone', Journal of Clinical Endocrinology and Metabolism, vol. 98, no. 11. https://doi.org/10.1210/jc.2013-2349
Epitácio-Pereira, Carlos C. ; Silva, Gabriella M F ; Salvatori, Roberto ; Santana, João A M ; Pereira, Francisco A. ; Gois-Junior, Miburge B. ; Britto, Allan V O ; Oliveira, Carla R P ; Souza, Anita H O ; Santos, Elenilde G. ; Campos, Viviane C. ; Pereira, Rossana M C ; Valença, Eugênia H O ; Barbosa, Rita A A ; Farias, Maria Isabel T ; De Paula, Francisco J A ; Ribeiro, Taisa V. ; Oliveira, Mario C P ; Aguiar-Oliveira, Manuel H. / Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone. In: Journal of Clinical Endocrinology and Metabolism. 2013 ; Vol. 98, No. 11.
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abstract = "Context: The GH/IGF-I axis is important for bone growth, but its effects on joint function are not completely understood. Adult-onset GH-deficient individuals have often reduced bone mineral density (BMD). However, there are limited data on BMD in adult patients with untreated congenital isolated GH-deficient (IGHD). We have shown that adult IGHD individuals from the Itabaianinha, homozygousfor the c.57+1G>AGHRHRmutation, have reducedbonestiffness, butBMDand joint status in this cohort are unknown. Objective: The goal is to study BMD, joint function, and osteoarthritis score in previously untreated IGHD adults harboring the c.57+1G>A GHRHR mutation. Design: This is a cross-sectional study. Methods: Areal BMD by dual-energy X-ray absorptiometry was measured in 25 IGHD and 23 controls (CO). VolumetricBMD(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). Results: Genu valgum was more prevalent in IGHD than CO. 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 CO, but vBMD was similar in the two groups. Range of motion was similar in elbow, knee, and hip in IGHD and CO. Conclusions: Untreated congenital IGHD due to a GHRHR mutation causes hip joint problems and genu valgum, without apparent clinical significance, reduces bone size, but does not reduce vBMD of the lumbar spine and hip.",
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T1 - Isolated GH deficiency due to a GHRH receptor mutation causes hip joint problems and genu valgum, and reduces size but not density of trabecular and mixed bone

AU - Epitácio-Pereira, Carlos C.

AU - Silva, Gabriella M F

AU - Salvatori, Roberto

AU - Santana, João A M

AU - Pereira, Francisco A.

AU - Gois-Junior, Miburge B.

AU - Britto, Allan V O

AU - Oliveira, Carla R P

AU - Souza, Anita H O

AU - Santos, Elenilde G.

AU - Campos, Viviane C.

AU - Pereira, Rossana M C

AU - Valença, Eugênia H O

AU - Barbosa, Rita A A

AU - Farias, Maria Isabel T

AU - De Paula, Francisco J A

AU - Ribeiro, Taisa V.

AU - Oliveira, Mario C P

AU - Aguiar-Oliveira, Manuel H.

PY - 2013/11/1

Y1 - 2013/11/1

N2 - Context: The GH/IGF-I axis is important for bone growth, but its effects on joint function are not completely understood. Adult-onset GH-deficient individuals have often reduced bone mineral density (BMD). However, there are limited data on BMD in adult patients with untreated congenital isolated GH-deficient (IGHD). We have shown that adult IGHD individuals from the Itabaianinha, homozygousfor the c.57+1G>AGHRHRmutation, have reducedbonestiffness, butBMDand joint status in this cohort are unknown. Objective: The goal is to study BMD, joint function, and osteoarthritis score in previously untreated IGHD adults harboring the c.57+1G>A GHRHR mutation. Design: This is a cross-sectional study. Methods: Areal BMD by dual-energy X-ray absorptiometry was measured in 25 IGHD and 23 controls (CO). VolumetricBMD(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). Results: Genu valgum was more prevalent in IGHD than CO. 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 CO, but vBMD was similar in the two groups. Range of motion was similar in elbow, knee, and hip in IGHD and CO. Conclusions: Untreated congenital IGHD due to a GHRHR mutation causes hip joint problems and genu valgum, without apparent clinical significance, reduces bone size, but does not reduce vBMD of the lumbar spine and hip.

AB - Context: The GH/IGF-I axis is important for bone growth, but its effects on joint function are not completely understood. Adult-onset GH-deficient individuals have often reduced bone mineral density (BMD). However, there are limited data on BMD in adult patients with untreated congenital isolated GH-deficient (IGHD). We have shown that adult IGHD individuals from the Itabaianinha, homozygousfor the c.57+1G>AGHRHRmutation, have reducedbonestiffness, butBMDand joint status in this cohort are unknown. Objective: The goal is to study BMD, joint function, and osteoarthritis score in previously untreated IGHD adults harboring the c.57+1G>A GHRHR mutation. Design: This is a cross-sectional study. Methods: Areal BMD by dual-energy X-ray absorptiometry was measured in 25 IGHD and 23 controls (CO). VolumetricBMD(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). Results: Genu valgum was more prevalent in IGHD than CO. 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 CO, but vBMD was similar in the two groups. Range of motion was similar in elbow, knee, and hip in IGHD and CO. Conclusions: Untreated congenital IGHD due to a GHRHR mutation causes hip joint problems and genu valgum, without apparent clinical significance, reduces bone size, but does not reduce vBMD of the lumbar spine and hip.

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