Ocular findings in adult subjects with an inactivating mutation in GH releasing hormone receptor gene

Faro, Augusto C N; Pereira-Gurgel, Virginia M.; Salvatori, Roberto; Campos, Viviane C.; Melo, Gustavo Barreto; Oliveira, Francielle T; Oliveira-Santos, Alécia A; Oliveira, Carla R. P.; Pereira, Fernanda Aparecida Castro; Hellström, Ann; Oliveira-Neto, Luis A; Valença, Eugênia H O; Aguiar‐Oliveira, Manuel H.

doi:10.1016/j.ghir.2017.04.002

Cited by 11 publications

(6 citation statements)

References 36 publications

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“…The data in Table 1 show an uneven reduction in bone, as expressed in standard deviation scores (SDSs) and nonbone measures, corrected by body surface. It adds very recent data about the dental arches (29) and the mesiodistal measurement of the teeth (30) to several previously published papers (31)(32)(33)(34)(35)(36)(37)(38)(39)(40). The pattern of cephalometric measures explains the doll facies and their high-pitched voice.…”

Section: Sergipe In Gh Researchmentioning

confidence: 76%

“…The less marked reduction in the size of the teeth coupled to a greater reduction of most jaw dimensions can have deleterious consequences, such as crowding, malocclusion, and periodontal disease ( 41 ), but it can have benefits, providing a masticatory advantage. Accordingly, tooth growth parallels ocular axial length and head circumference (brain) development ( 32 ), other important elements of environmental adaptation and survival capacity. The growth of the eyes and of the brain seems to be minimally affected by GHD.…”

Section: Body Size Measurements In Itabaianinha Syndromementioning

confidence: 99%

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The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome

Aguiar‐Oliveira¹,

Salvatori²

2022

Archives of Endocrinology and Metabolism

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In the late 19 th century, José Dantas de Souza Leite, a physician born in Sergipe, published the first detailed clinical description of acromegaly under the guidance of the French neurologist Pierre Marie. In 2014, the Brazilian Society of Endocrinology and Metabolism created the "José Dantas de Souza Leite Award" , which is granted every two years to a Brazilian researcher who has contributed to the development of endocrinology. In 2022, the award was given to another physician from Sergipe, Manuel Hermínio de Aguiar Oliveira, from the Federal University of Sergipe for the description of "Itabaianinha syndrome" in a cohort of individuals with isolated GH deficiency due to a homozygous inactivating mutation in the GH-releasing hormone receptor gene. This research, which was carried out over almost 30 years, was performed in partnership with Roberto Salvatori from Johns Hopkins University and in collaboration with other researchers around the world. This review article tells the story of Souza Leite, some milestones in the history of GH, and summarizes the description of Itabaianinha syndrome.

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Section: Sergipe In Gh Researchmentioning

confidence: 76%

Section: Body Size Measurements In Itabaianinha Syndromementioning

confidence: 99%

The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome

Aguiar‐Oliveira¹,

Salvatori²

2022

Archives of Endocrinology and Metabolism

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“…We have previously described a large cohort of IGHD individuals with severe short stature due to a homozygous inactivating mutation in the GHRHR gene [ 17 ], but near normal ocular axial length [ 16 ]. We have previously analyzed the OCT of the macula and the fundus photography of these untreated IGHD adults.…”

Section: Discussionmentioning

confidence: 99%

“…Although historical studies suggest cardio or cerebrovascular vascular damage in acquired GH deficiency (GHD) [ 12 , 13 ], more recent articles do not support this association, suggesting that vascular damage in acquired GHD may be linked to associated gonadal, thyroid, or cortisol deficits, their replacements and/or radiotherapy [ 14 , 15 ]. We have described a large cohort of individuals residing in Itabaianinha, in the Brazilian state of Sergipe, with severe short stature, but near normal ocular axial length [ 16 ], due to a congenital isolated GHD (IGHD), caused by the c.57 + 1G > A mutation in the GH releasing hormone receptor (GHRHR) gene ( GHRHR OMIM n.618157) [ 17 ]. These individuals otherwise normal pituitary function, and present extremely low serum GH levels throughout life and, in most cases, undetectable levels of serum IGF-I [ 18 ].…”

Section: Introductionmentioning

confidence: 99%

Quantitative measures of the vascular and neural components of the retina in adult individuals with congenital and untreated growth hormone deficiency

et al. 2022

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Background The somatotrophic axis, including hypothalamic growth hormone (GH)-releasing hormone (GHRH), pituitary GH and circulating IGF-I, is critical for body size. However, the local production of GH/IGF-I (and IGF-II) and other peptides is relevant for other body functions, such as vascular, brain, and retinal function. The consequences of GH deficiency (GHD) on the retinal structure are still unclear, possibly reflecting the heterogeneity of patients and the different types of assessment in previous publications. Our purpose was to assess quantitative measures of the vascular and neural components of the retina in subjects with severe congenital isolated GHD (IGHD). Methods A cross-sectional study was carried out in 25 adult IGHD subjects and 25 age- and gender-matched controls. Interview, physical examination, laboratory data, optical coherence tomography (OCT) and OCT angiography (OCTA) were performed. Results OCT revealed no difference in the areas of the nerve fiber layer average, nor in the areas of superior, inferior, or nasal quadrants, between the two groups. However, areas of the temporal quadrant (p = 0.041), the optical disc (p = 0.042), the cup (p < 0.0001), as well as the cup/disc ratio (p < 0.0001), were higher in IGHD subjects than controls. The rim area was smaller (p = 0.002), although still normal. In OCTA, there was no difference in the minimum foveal thickness, central fovea, foveal avascular zone, and retinal density in any assessed area. Conclusions In conclusion, congenital IGHD does not affect quantitative measures of the vascular and neural retina, and it is associated with increased optical disc in this genetically homogeneous cohort.

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“…Mutations of GHRH-R, classified into six different types, cause defective GHRH functionality ( 13 ). Null-type GHRH-R mutations lead to unmeasurable IGF-1 levels and are accompanied by mild ocular disorders ( 14 ). Missense GHRH-R variants -such as p.G369V or p.T257A- result in partial loss of receptor function due to defective ligand binding and milder phenotypes, occasionally accompanied by hypoglycemia ( 15 ).…”

Section: Discussionmentioning

confidence: 99%

A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib

Galli-Tsinopoulou

Kotanidou

Kleisarchaki

et al. 2018

Jcrpe

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Congenital isolated growth hormone deficiency (IGHD) type 1b is an autosomal recessive genetic condition caused by mutations of growth hormone (GH)-1 or the growth hormone releasing hormone receptor (GHRH-R) genes. Affected subjects present with symptoms of growth hormone deficiency (GHD) with low but detectable levels of growth hormone (GH), short stature and responsiveness to GH therapy. We describe a 13-month old girl with severe growth failure who showed a low GH response to two GH provocation tests and a modest increase of insulin-like growth factor-1 (IGF-1) to an IGF-1 generation test. Whole exome sequencing revealed a novel homozygous variant of the GHRH-R gene (c.97C>T), leading to a premature stop codon. Administration of recombinant human GH improved linear growth. This is the first report of a c.97C>T mutation of the GHRH-R gene.

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Ocular findings in adult subjects with an inactivating mutation in GH releasing hormone receptor gene

Cited by 11 publications

References 36 publications

The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome

The state of Sergipe contribution to GH research: from Souza Leite to Itabaianinha syndrome

Quantitative measures of the vascular and neural components of the retina in adult individuals with congenital and untreated growth hormone deficiency

A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib

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