TY - JOUR
T1 - Disruption of the GHRH receptor and its impact on children and adults
T2 - The Itabaianinha syndrome
AU - Aguiar-Oliveira, Manuel H.
AU - Salvatori, Roberto
N1 - Publisher Copyright:
© 2020, Springer Science+Business Media, LLC, part of Springer Nature.
PY - 2021/3
Y1 - 2021/3
N2 - Since 1994, we have been studying an extended kindred with 105 subjects (over 8 generations) residing in Itabaianinha County, in the Brazilian state of Sergipe, who have severe isolated GH deficiency (IGHD) due to a homozygous inactivating mutation (c.57 + 1G > A) in the GH releasing hormone (GHRH) receptor (GHRHR) gene. Most of these individuals have never received GH replacement therapy. They have low GH, and very low and often undetectable levels of serum IGF-I. Their principal physical findings are proportionate short stature, doll facies, high-pitched-voice, central obesity, wrinkled skin, and youthful hair with delayed pigmentation, and virtual absence of graying. The newborns from this cohort are of normal size, indicating that GH is not needed for intra-uterine growth. However, these IGHD individuals exhibit a myriad of phenotypic changes throughout the body, with a greater number of beneficial than harmful consequences. This GHRH signal disruption syndrome has been a valuable model to study the GH roles in body size and function. This reviews summarized the findings we have reported on this cohort.
AB - Since 1994, we have been studying an extended kindred with 105 subjects (over 8 generations) residing in Itabaianinha County, in the Brazilian state of Sergipe, who have severe isolated GH deficiency (IGHD) due to a homozygous inactivating mutation (c.57 + 1G > A) in the GH releasing hormone (GHRH) receptor (GHRHR) gene. Most of these individuals have never received GH replacement therapy. They have low GH, and very low and often undetectable levels of serum IGF-I. Their principal physical findings are proportionate short stature, doll facies, high-pitched-voice, central obesity, wrinkled skin, and youthful hair with delayed pigmentation, and virtual absence of graying. The newborns from this cohort are of normal size, indicating that GH is not needed for intra-uterine growth. However, these IGHD individuals exhibit a myriad of phenotypic changes throughout the body, with a greater number of beneficial than harmful consequences. This GHRH signal disruption syndrome has been a valuable model to study the GH roles in body size and function. This reviews summarized the findings we have reported on this cohort.
KW - GH
KW - GHRH
KW - GHRH receptor
KW - IGF-I
KW - IGF-II
UR - http://www.scopus.com/inward/record.url?scp=85091107833&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85091107833&partnerID=8YFLogxK
U2 - 10.1007/s11154-020-09591-4
DO - 10.1007/s11154-020-09591-4
M3 - Review article
C2 - 32935264
AN - SCOPUS:85091107833
SN - 1389-9155
VL - 22
SP - 81
EP - 89
JO - Reviews in Endocrine and Metabolic Disorders
JF - Reviews in Endocrine and Metabolic Disorders
IS - 1
ER -