Polymorphism of the growth hormone gene GH1 in Polish children and adolescents with short stature

Majewska, Katarzyna Anna; Kędzia, Andrzej W.; Kontowicz, Przemyslaw; Prauzinska, Magdalena; Szydłowski, Jarosław; Świtoński, M.; Nowacka‐Woszuk, Joanna

doi:10.1007/s12020-020-02305-5

Cited by 10 publications

(3 citation statements)

References 34 publications

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“…There are more male patients than females in our study population. This is similar to some previous reports, [33][34][35] considering that men may be more willing to seek medical treatment due to social, family values and other factors.…”

supporting

confidence: 91%

<p>Association Between Serum Calcium and Phosphorus Levels and Insulin-Like Growth Factor-1 in Chinese Children and Adolescents with Short Stature</p>

Sun¹,

Yan²,

Zhao³

et al. 2020

IJGM

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supporting

confidence: 91%

<p>Association Between Serum Calcium and Phosphorus Levels and Insulin-Like Growth Factor-1 in Chinese Children and Adolescents with Short Stature</p>

Sun¹,

Yan²,

Zhao³

et al. 2020

IJGM

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“…The GH1 gene provides instructions for making the growth hormone protein. Growth hormone is produced in the growth-stimulating somatotropic cells of the pituitary gland[ 24 ]. Growth hormone is necessary for the normal growth of the body's bones and tissues.…”

Section: Discussionmentioning

confidence: 99%

Study on pathogenic genes of dwarfism disease by next-generation sequencing

Yang¹,

Liang²

2021

WJCC

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BACKGROUND There are many factors that lead to dwarfism, and the mechanism has not yet been elucidated. Next-generation sequencing may identify candidate-related gene mutations, which may clarify the molecular cause. AIM To analyze genetic variation by using a constructed panel related to dwarfism by utilizing next-generation sequencing platform sequencing analysis to screen candidate-related gene mutations. METHODS Physical and laboratory characteristics, including clinical examination, growth hormone drug challenge test, serum insulin-like growth factor-1 (IGF-1), IGF binding protein 3, other related tests, imaging examination, and chromosome karyotyping, were analyzed. Next-generation sequencing was performed to analyze pathogenicity variability. RESULTS In the 39 dwarfism patients, 10 had pathogenicity variability. Gene variation was found in the OBSL1 , SLC26A2 , PTPN11 , COL27AI , HDAC6 , CUL7 , FGFR3 , DYNC2H1 , GH1 , and ATP7B genes. Of the 10 patients with pathogenicity variability, the related physical characteristics included double breast development and growth hormone deficiency, enuresis and indirect inguinal hernia on the left, two finger distance of 70.2 cm, head circumference of 49.2 cm, ischium/lower body length of 1.8 cm, weak limb muscles, and partial growth hormone deficiency. After 6 mo of growth hormone therapy, the concentrations of IGF-1 and IGF binding protein 3 increased from 215.2 ± 170.3 to 285.0 ± 166.0 and 3.9 ± 1.4 to 4.2 ± 1.1, respectively. CONCLUSION OBSL1 , SLC26A2 , PTPN11 , COL27AI , HDAC6 , CUL7 , FGFR3 , DYNC2H1 , GH1 , and ATP7B genes may be related to the incidence of dwarfism, and more research needs to be performed to elucidate the mechanism.

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“…Isolated growth hormone deficiency (IGHD) may be caused by various genetic factors or by structural changes in the hypothalamus or pituitary, but the most commonly diagnosed form of the disease is idiopathic, with an unknown cause [20][21][22][23]. The main symptoms of IGHD include short stature and poor growth velocity [22,24,25].…”

Section: Introductionmentioning

confidence: 99%

Clinical Implications of Growth Hormone Deficiency for Oral Health in Children: A Systematic Review

Torlińska-Walkowiak

Majewska

Kędzia

et al. 2021

JCM

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Growth hormone (GH) is involved in the regulation of the postnatal dental and skeletal growth, but its effects on oral health have not been clearly defined. This paper aims to provide a review of current clinical knowledge of dental caries, tooth wear, developmental enamel defects, craniofacial growth and morphology, dental maturation, and tooth eruption in growth hormone deficient (GHD) children. A systematic review was carried out using Scopus, MEDLINE-EbscoHost and Web of Science from 2000 to May 2021. PRISMA guidelines for reporting systematic reviews were followed. All the selected studies involved groups under eighteen years of age, covering a total of 465 GHD patients. The studies that were selected provide reliable evidence for delayed dental maturity and orthodontic disturbances in GHD patients. Data on dental hard tissues pathology are scarce and are limited to occurrences of dental caries. GHD children showed abnormal craniofacial morphology with reduced mandibular dimensions, with a resulting tendency towards Angle’s Class II occlusion, which affected up to 31% of patients. Dental age has been shown to be delayed in GHD patients by about 1 to 2 years. Moreover, the risk of dental caries in children with GHD decreases with increasing levels of vitamin D. Hence, further studies would be valuable for evaluating the risk of various oral health problems and to organize targeted dental care for this vulnerable group.

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Polymorphism of the growth hormone gene GH1 in Polish children and adolescents with short stature

Cited by 10 publications

References 34 publications

<p>Association Between Serum Calcium and Phosphorus Levels and Insulin-Like Growth Factor-1 in Chinese Children and Adolescents with Short Stature</p>

<p>Association Between Serum Calcium and Phosphorus Levels and Insulin-Like Growth Factor-1 in Chinese Children and Adolescents with Short Stature</p>

Study on pathogenic genes of dwarfism disease by next-generation sequencing

Clinical Implications of Growth Hormone Deficiency for Oral Health in Children: A Systematic Review

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