Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene

Santos-Carvalho, Hugo A; Aguiar‐Oliveira, Manuel H.; Salvatori, Roberto; Valença, Eugênia H O; Andrade-Guimarães, Alana L; Repeke, Carlos; Moreira-Cândido, Luan P; Araújo-Daniel, Carlos R; Oliveira-Barreto, Aline Cabral de; Andrade, Bruna Mateus Rocha de; Oliveira, Alaíde H.A.; Vieira, Edgar Ramos; Gois-Junior, Miburge B

doi:10.1007/s12020-019-02178-3

Cited by 3 publications

(3 citation statements)

References 26 publications

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“…Not surprisingly, there were no reports of spontaneous fractures in this cohort, and the prevalence of vertebral fracture was reduced in older IGHD individuals compared to age-matched controls ( 50 ). They presented satisfactory walking and postural balance with no increased risk of falling ( 51 ), although they had moderate peripheral vestibular impairment ( 52 ) without clinical consequences, as they were quite active in agriculture, horseback riding, and sports.…”

Section: Body Functions In Itabaianinha Syndromementioning

confidence: 99%

“…The external and internal genitalia are essentially normal, which guarantees sexual life with a person of normal stature, with preserved reproductive capacity ( 20 , 24 , 25 , 54 ). The organs of sense present a generally very satisfactory performance (little, if any, vision impairment), with mild changes in cochlear function (mild high-tone sensorineural hearing loss) ( 55 ) and labyrinth function (moderate peripheral vestibular impairment) ( 52 ). These minor problems do not disturb their normal quality of life.…”

Section: Body Functions 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: Body Functions In Itabaianinha Syndromementioning

confidence: 99%

Section: Body Functions 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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“…GHRH binds to its specific receptor GHRHR to control GH synthesis and secretion in the pituitary gland. Patients with mutations in GHRHR [66,67] present with severe GH deficiency, mild high-tone sensorineural hearing loss (SNHL) and dizziness. Similar to the phenotype of Pou1f1 and Prop1 mutant mice, Ghrh and Ghrhr (Little) knockout mice show postnatal growth retardation, pituitary hypoplasia and decreased GH and IGF-1 levels, but curiously, they do not have an abnormal hearing phenotype [63] (IMPC database MGI:95709 and 95710, respectively).…”

Section: Gh Systemmentioning

confidence: 99%

Insulin-like Growth Factor 1 Signaling in Mammalian Hearing

García-Mato

Cervantes

Murillo-Cuesta

et al. 2021

Genes

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Insulin-like growth factor 1 (IGF-1) is a peptide hormone belonging to the insulin family of proteins. Almost all of the biological effects of IGF-1 are mediated through binding to its high-affinity tyrosine kinase receptor, (IGF1R), a transmembrane receptor belonging to the insulin receptor family. Factors, receptors and IGF-binding proteins form the IGF system, which has multiple roles in mammalian development, adult tissue homeostasis, and aging. Consequently, mutations in genes of the IGF system, including downstream intracellular targets, underlie multiple common pathologies and are associated with multiple rare human diseases. Here we review the contribution of the IGF system to our understanding of the molecular and genetic basis of human hearing loss by describing, (i) the expression patterns of the IGF system in the mammalian inner ear; (ii) downstream signaling of IGF-1 in the hearing organ; (iii) mouse mutations in the IGF system, including upstream regulators and downstream targets of IGF-1 that inform cochlear pathophysiology; and (iv) human mutations in these genes causing hearing loss.

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Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome

Aguiar‐Oliveira

Salvatori

2020

Rev Endocr Metab Disord

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Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene

Cited by 3 publications

References 26 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

Insulin-like Growth Factor 1 Signaling in Mammalian Hearing

Disruption of the GHRH receptor and its impact on children and adults: The Itabaianinha syndrome

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