Burden of Growth Hormone Deficiency and Excess in Children

Fideleff, Hugo; Boquete, Hugo; Suárez, Marta María Vidal; Azaretzky, Miriam

doi:10.1016/bs.pmbts.2015.10.009

Cited by 12 publications

(6 citation statements)

References 60 publications

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“…Also, to determine GHD, the health center situation, sampling, and sex steroids priming before GH provocative testing affecting its quality should be considered. The definition of GHD is controversial; however, the majority of experts regard a cut-off serum GH level of 10 ug/L (37). Most children with GHD were detected with idiopathic GHD, which is consistent with other studies.…”

Section: Discussionsupporting

confidence: 85%

Causes of Short Stature in Children Referred to a Tertiary Care Center in Southeast of Iran: 2018-2020

Sheikhi

Bonyadi

Heidari

2022

JPR

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Objective: Short stature is a common problem encountered by endocrinologists. The objective of this study was to evaluate the frequency of common causes of short stature in children referred to the endocrinology clinic. Material and Methods: This prospective and descriptive study was carried out between August 2018 and September 2020. Included criteria were: age below 18 years, height more than 2 SD below the mean (< 3rd percentile), growth failure (< 4 cm/year), small for mid-parental height, and adequate follow-up. They were evaluated by anthropometric measurements; biochemical panel; hormonal tests; radiological studies; and hormonal provocative tests. Results: A total of 509 cases, 238 males (46.8%), and 271 females (53.2%) had short stature. The age of participants varied between 2-18 years. The mean chronological age was 11.83±3.44 years. Most study participants were over 10 years old (68%). Normal variants of growth with 271 (53.34%) children, were the most prevalent causes. These causes included in three subgroups: Familial short stature: 133 (26.14%); Constitutional delay of growth and puberty: 112 (22%); and Idiopathic short stature: 26 (5.12%). Totally 238 cases (46.66%) were due to pathologic types of Short Stature. The leading cause of short stature in this group was Growth Hormone deficiency that is seen in 70 (13.76%) patients. Conclusion: The normal variants of short stature as a group were the most common cause of short stature, followed by endocrinological causes of short stature and non-endocrinological causes.

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Section: Discussionsupporting

confidence: 85%

Causes of Short Stature in Children Referred to a Tertiary Care Center in Southeast of Iran: 2018-2020

Sheikhi

Bonyadi

Heidari

2022

JPR

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“…The tall stature that typically manifests in 47,XXY likely results from the three copies of X and Y chromosome height determining gene: SHOX. Delayed epiphyseal fusion secondary to testosterone deficiency may also explain tall stature in these boys 68. Although the bone age of boys with 47,XXY is typically qualified as clinically normal, osteoporosis, coupled with hypotonia, that is commonly seen in the untreated population can lead to further orthopedic complications 69…”

Section: Development and Growthmentioning

confidence: 99%

<p>Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)</p>

Samango‐Sprouse

Counts

Tran³

et al. 2019

TACG

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Abstract47,XXY (Klinefelter syndrome [KS]) is the most common sex chromosomal aneuploidy (1:660), yet, despite this, only 25% of the males are ever diagnosed. Males with 47,XXY present with characteristic symptoms throughout their lifetime with typical physical and neurodevelopmental manifestations focused in growth, cognitive development, endocrine function, and reproduction. Studies have demonstrated that optimal outcomes are dependent on early detection combined with consistent and targeted neurodevelopmental treatment throughout the lifespan. During infancy and into the preschool years, individuals with 47,XXY commonly face deficits in growth and development in the areas of early hormonal, motor, speech, and behavioral development. As they transition into school, the primary neurodevelopmental concerns include language difficulty, executive dysfunction, behavior, and learning and reading deficits. Adults with 47,XXY often present with taller than average height, low levels of fertility, azoospermia, and elevated gonadotropin levels. These presentations may persist from early childhood through adulthood but can be mitigated by appropriate interventions. Early neurodevelopmental and hormonal treatment has been shown to have a minimizing effect on the physical and neurodevelopmental manifestations in individuals with 47,XXY. With innovative and current research studies, the features common to the neurodevelopmental profile of 47,XXY have been further expanded and defined. Further research is necessary to elucidate and understand the relationship between the brain, behavior, and the phenotypic profile of 47,XXY.

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“…Congenital growth hormone deficiency (GHD) is a rare disease characterized by decreased growth hormone (GH) secretion of the anterior pituitary, which leads to growth impairment and metabolic dysfunction in children ( 1 , 2 ). The causes of GHD include pituitary dysplasia and pathogenic mutations in GH-insulin like growth factor 1 (IGF1) axis-related genes, such as GH1 , GHRHR ( 3 , 4 ). However, recent cohort studies of the genetic causes of GHD patients in South and East Asian populations reported that the proportion of patients with molecular diagnosis ranges from 4% to 43% ( 5 , 6 ).…”

Section: Introductionmentioning

confidence: 99%

Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients

Xie

Zhao

et al. 2021

Front. Endocrinol.

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PurposeCongenital growth hormone deficiency (GHD) is a rare and etiologically heterogeneous disease. We aim to screen disease-causing mutations of GHD in a relatively sizable cohort and discover underlying mechanisms via a candidate gene-based mutational burden analysis.MethodsWe retrospectively analyzed 109 short stature patients associated with hormone deficiency. All patients were classified into two groups: Group I (n=45) with definitive GHD and Group II (n=64) with possible GHD. We analyzed correlation consistency between clinical criteria and molecular findings by whole exome sequencing (WES) in two groups. The patients without a molecular diagnosis (n=90) were compared with 942 in-house controls for the mutational burden of rare mutations in 259 genes biologically related with the GH axis.ResultsIn 19 patients with molecular diagnosis, we found 5 possible GHD patients received known molecular diagnosis associated with GHD (NF1 [c.2329T>A, c.7131C>G], GHRHR [c.731G>A], STAT5B [c.1102delC], HRAS [c.187_207dup]). By mutational burden analysis of predicted deleterious variants in 90 patients without molecular diagnosis, we found that POLR3A (p = 0.005), SUFU (p = 0.006), LHX3 (p = 0.021) and CREB3L4 (p = 0.040) represented top genes enriched in GHD patients.ConclusionOur study revealed the discrepancies between the laboratory testing and molecular diagnosis of GHD. These differences should be considered when for an accurate diagnosis of GHD. We also identified four candidate genes that might be associated with GHD.

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Burden of Growth Hormone Deficiency and Excess in Children

Cited by 12 publications

References 60 publications

Causes of Short Stature in Children Referred to a Tertiary Care Center in Southeast of Iran: 2018-2020

Causes of Short Stature in Children Referred to a Tertiary Care Center in Southeast of Iran: 2018-2020

<p>Update On The Clinical Perspectives And Care Of The Child With 47,XXY (Klinefelter Syndrome)</p>

Whole Exome Sequencing Uncovered the Genetic Architecture of Growth Hormone Deficiency Patients

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