scholarly journals Case Report: A Clinical and Genetic Analysis of Childhood Growth Hormone Deficiency With Familial Hypercholesterolemia

2021 ◽  
Vol 12 ◽  
Author(s):  
Shengmin Yang ◽  
Xiaoan Ke ◽  
Hanting Liang ◽  
Ran Li ◽  
Huijuan Zhu
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Metabolic Pathway ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Lipid Profiles ◽  
Hormone Deficiency ◽  
Genetic Mutations ◽  
Low Density ◽  
Rhgh Treatment

BackgroundGrowth hormone deficiency (GHD) is a developmental disorder in children characterized by low growth hormone (GH), short stature and unfavorable lipid profiles. Familial hypercholesteremia (FH) is an inborn disorder of low-density lipoprotein cholesterol (LDL-C) metabolism which results in premature cardiovascular events. The co-occurrence of GHD and FH, which may aggravate the hypercholesteremic condition in the affected individuals, had rarely been discussed in previous publication.MethodsThis work reports two cases of GHD with FH, and explores the lipid profiles of GHD children and their therapeutic response to recombinant human growth hormone (rhGH). The diagnosis of GHD is based on low peak GH level (<7 ng/mL) in GH provocation test. FH is diagnosed by high LDL-C level (≥ 4 mmol/L) and confirmed genetic mutations in the LDL-C metabolic pathway. We also searched all previously published metabolic studies on GHD children as of December 31, 2020. Information on their LDL-C, duration and dose of rhGH treatment were retrieved and summarized.ResultsThe first case was a 5.3 year-old boy. His height was 103.6 cm (SDS = -2.29) and his peak GH in provocative test was 6.37 ng/mL. Additionally, his LDL-C was 4.80 mmol/L and he harbored a heterozygous mutation for the apolipoprotein B (APOB) gene (c.10579 C > T). The second case was a 9-year-old girl at the height of 117.3 cm (SDS = -2.91). Her GH peaked at 4.99 ng/mL in insulin-induced hypoglycemic test and 2.80 ng/mL in L-dopa test. Her LDL-C was 6.16 mmol/L, and she carried a mutated copy of the low-density lipoprotein receptor (LDLR) gene (c.809 G > A). Literature review indicated that GHD children suffered from higher baseline LDL-C, but it was significantly reduced after rhGH treatment.ConclusionsFH should be considered if a GHD child has remarkably elevated LDL-C that cannot be attributed to low GH level alone. Genetic mutations in the LDL-C metabolic pathway prevent the body from effectively metabolizing lipids, thereby resulting in early-onset hypercholesteremia and probably playing a negative role in children’s growth.

Serum adipokines and low density lipoprotein subfraction profile in hypopituitary patients with growth hormone deficiency

Pituitary ◽  
2011 ◽  
Vol 15 (3) ◽  
pp. 386-392 ◽  
Author(s):  
Serpil Salman ◽  
Ayse Kubat Uzum ◽  
Aysegul Telci ◽  
Faruk Alagol ◽  
Nese Colak Ozbey
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Hormone Deficiency ◽  
Low Density ◽  
Lipoprotein Subfraction

An open 36-month study of lipid changes with growth hormone in adults: lipid changes following replacement of growth hormone in adult acquired growth hormone deficiency

1996 ◽  
Vol 134 (1) ◽  
pp. 61-66 ◽  
Author(s):  
P Garry ◽  
P Collins ◽  
JG Devlin
Keyword(s):  
Growth Hormone ◽  
High Density Lipoprotein ◽  
Growth Hormone Deficiency ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
High Density ◽  
Rate Of Change ◽  
Hormone Deficiency ◽  
Low Density ◽  
Lipoprotein A

Garry P. Collins P. Devlin JG. An open 36 month study of lipid changes with growth hormone in adults: lipid changes following replacement of growth hormone in adult acquired growth hormone deficiency. Eur J Endocrinol 1996:134:61–6. ISSN 0804–4643 Interest in adult growth hormone replacement has increased since identification of the associated vascular morbidity and mortality. Although total cholesterol and low density lipoprotein reduction and high density lipoprotein increases are anticipated, reports are conflicting and there is no uniformity in lipoprotein(a) changes. In 1990 we commenced an open trial of therapy with human recombinant GH and now have results to 36 months for 21 patients. Deficiency status was confirmed by insulin stress test with flat GH response <2.0 ng/ml, mean insulin-like growth factor-I value 122 ng/ml (±69 SD). Lipoprotein(a) was measured by monoclonal assay. Lipid analysis yields two subgroups: baseline cholesterol levels of greater or less than 6.22 mmol/l, with hypercholesterolaemic patients showing an enhanced hypolipaemic response. ANOVA was utilized, with 95% confidence limits. The most significant changes are of reductions in cholesterol and low density lipoprotein: the rate of change is greatest at 6 and 12 months but not sustained to 36 months. High density lipoprotein rises as expected, not to full significance. Lipoprotein(a) levels rose significantly in six patients of the cohort, and the increase was sustained over 36 months. JG Devlin, Department of Endocrinology, Beaumont Hospital. Dublin 9. Ireland

scholarly journals Markedly Increased Small Dense Low-Density Lipoprotein During Acute Phase in Childhood and Adolescent Nephrotic Syndrome

2020 ◽  
Author(s):  
Keisuke Sugimoto ◽  
Kohei Miyazaki ◽  
Takuji Enya ◽  
Tomoki Miyazawa ◽  
Yuichi Morimoto ◽  
...  
Keyword(s):  
Nephrotic Syndrome ◽  
Acute Phase ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Lipid Profiles ◽  
Atherogenic Index ◽  
Childhood And Adolescence ◽  
Low Density ◽  
Ldl Particles ◽  
Initial Onset

Abstract Background: Hyperlipidemia is an important characteristic feature of idiopathic nephrotic syndrome (NS) in children. This study was conducted to examine the lipid profiles, including small dense low-density lipoprotein (sdLDL-C), in childhood-onset NS.Methods: This retrospective study enrolled patients diagnosed with initial-onset NS in childhood and adolescence. Study parameters included lipid profiles. The “alternative LDL window” comprises the number and sizes of LDL particles estimated according to non-HDL-C and TG levels.Results: A total of 39 patients were enrolled who exhibited markedly increased lipid abnormalities, including TC, TG, LDL-C, and non-HDL-C levels (TC, 409.7 TC, TG, and sizes of LDL particles estimated as non-HDL-C, 332.3). Of the 39 patients, 32 (82%) were categorized in the area of hyper-TG/-non-HDL levels, which is considered as sdLDL. A positive correlation was found between non-HDL-C and TC (r = 0.96, P < 0.001), TG (r = 0.38, P = 0.018), LDL-C (r = 0.84, P < 0.001), TC/HDL (r = 0.53, P < 0.001), and atherogenic index of plasma (r = 0.42, P = 0.008).Conclusions: Our study demonstrated markedly increased lipid profiles during the acute phase of NS. Evaluation of lipid profiles using the “alternative LDL window” may help understand the state of hyperlipidemia in NS.

scholarly journals Evaluation of lipid profiles and hematological parameters in hypertensive patients: Laboratory-based cross-sectional study

2018 ◽  
Vol 6 ◽  
pp. 205031211875666 ◽  
Author(s):  
Alemu Gebrie ◽  
Natesan Gnanasekaran ◽  
Menakath Menon ◽  
Mekonnen Sisay ◽  
Abriham Zegeye
Keyword(s):  
Blood Pressure ◽  
Blood Cell ◽  
Total Cholesterol ◽  
Hematological Parameters ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Lipid Profiles ◽  
Low Density ◽  
Blood Cell Count ◽  
Hypertensive Patients

Introduction: Hypertension and dyslipidemia are the two coexisting and synergizing major risk factors for cardiovascular diseases. The cellular constituents of blood affect the volume and viscosity of blood, thus playing a key role in regulating blood pressure. Overweight and obesity are key determinants of adverse metabolic changes including an increase in blood pressure. The aim of this study was to evaluate lipid profiles and hematological parameters in hypertensive patients at Debre Markos Referral Hospital, Northwest Ethiopia. Methods: Laboratory-based cross-sectional study was conducted in 100 eligible hypertensive patients at the hospital. The required amount of blood was withdrawn from the patients by healthcare professionals for immediate automated laboratory analyses. Data were collected on socio-demographic factors, anthropometric measurements, blood pressure, lipid profiles, and hematological parameters. Result: The mean serum levels of triglyceride, total cholesterol, and low-density lipoprotein were significantly higher than their respective cut-off values in the hypertensive patients. Besides, 54%, 52%, 35%, and 11% of the hypertensive patients had abnormal low-density lipoprotein, total cholesterol, triglyceride, and high-density lipoprotein levels, respectively. Higher levels of low-density lipoprotein, hemoglobin, and red blood cell count were observed in the hypertensive patients whose blood pressure had been poorly controlled than the controlled ones ( p < 0.05). Waist circumference had a significant positive association with the serum levels of total cholesterol and white blood cell count ( p < 0.05). Conclusion: Hypertensive patients had a high prevalence of lipid profile abnormalities and poorly controlled blood pressure which synergize in accelerating other cardiovascular diseases. Some hematological parameters such as red blood cell count are also increased as do the severity of hypertension.

The Angle of Trunk Rotation in Children With Growth Hormone Deficiency

2020 ◽  
Author(s):  
Magdalena Kobylińska ◽  
Roksana Ewa Malak ◽  
Katarzyna Majewska ◽  
Włodzimierz Samborski ◽  
Andrzej Kędzia
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Human Growth Hormone ◽  
Bone Structure ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Hormone Deficiency ◽  
Trunk Rotation ◽  
Sport Activities ◽  
Rhgh Treatment

Abstract Background. Growth hormone plays a vital role in the human body. Its deficiency can lead to numerous disorders, including musculoskeletal system defects. Treatment with recombinant human growth hormone (rhGH) in children suffering from growth hormone deficiency (GHD) increases muscle mass and improves bone structure.Aim. The purpose of this study was to evaluate the angle of trunk rotation (ATR) in patients diagnosed with GHD treated with rhGH and to observe the incidence of scoliosis.Material and Methods. The study was conducted among 50 children diagnosed with GHD. The group consisted of 11 girls and 39 boys aged 6-16. The study group included 50 children: 10 children just qualified for rhGH treatment and 40 patients undergoing this treatment, with different therapy duration. ATR was measured using a Bunnell scoliometer on five levels of the spine: cervical 7 / thoracic 1, thoracic 6, thoracic 12 / lumbar 1, lumbar 3, lumbar 5 / sacral 1.Results. The most numerous asymmetries among the examined group were in the thoracolumbar segment and at the thoracic 6 level. Girls had greater asymmetries compared to boys especially at thoraco – lumbar and lumbar 3 level. There were no statistically significant differences in ATR at any level comparing patients before hormonal treatment and patients undergoing rhGH treatment. The age of the beginning of the therapy, the duration of rhGH therapy, and body mass index (BMI) also had no effect on ATR. Sport activities had a positive impact on the results obtained by scoliometer assessment.Conclusions. The angle of trunk rotation is higher in growth hormone-deficient females than in males. Weight, height, BMI, the time of growth hormone therapy beginning and the duration of this therapy do not influence ATR. The more sport activities, the lower value of the angle of trunk rotation, especially in male patients. Obtained results support the thesis, that treatment with recombinant human growth hormone does not increase the incidence of scoliosis.

Growth Hormone Therapy Does Not Increase the Risk of Craniopharyngioma and Nonfunctioning Pituitary Adenoma Recurrence

2020 ◽  
Vol 105 (5) ◽  
pp. 1573-1580
Author(s):  
Marco Losa ◽  
Laura Castellino ◽  
Angela Pagnano ◽  
Alessandro Rossini ◽  
Pietro Mortini ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Pituitary Adenoma ◽  
Growth Hormone Deficiency ◽  
Replacement Therapy ◽  
Pituitary Tumor ◽  
Tumor Recurrence ◽  
Hormone Deficiency ◽  
Rhgh Therapy ◽  
Adult Growth ◽  
Rhgh Treatment

Abstract Context Recombinant human growth hormone (rhGH) replacement therapy is often prescribed in patients with nonfunctioning pituitary adenoma (NFPA) or craniopharyngioma, Objective To study whether rhGH therapy in patients with adult growth hormone deficiency (AGHD) increases the risk of pituitary tumor recurrence. Design Retrospective, observational study. Setting Tertiary care center. Patients We studied 283 consecutive patients with AGHD due to NFPA or craniopharyngioma between 1995 and 2018. Intervention rhGH treatment at standard doses was initiated in 123 patients (43.5%). The remaining 160 patients served as controls. Main Outcome Measure Risk of tumor recurrence in rhGH-treated and control patients. Results In univariate analysis, recurrence of the pituitary tumor was less frequent in rhGH-treated patients (19.5%) than in controls (29.7%; hazard ratio [HR] 0.53, 95% confidence interval [CI] 0.32–0.86; P = .01). Multivariate Cox analysis demonstrated that the risk of tumor recurrence was associated with detection of residual disease at the baseline magnetic resonance imaging (HR 9.17; 95% CI, 4.88–17.22; P &lt; .001) and not having performed radiotherapy (HR 16.97; 95% CI, 7.55–38.16; P &lt; .001), while rhGH treatment was no longer associated with a lower risk of recurrence (HR 0.82; 95% CI, 0.47–1.44; P = .50). Conclusions We found no association between rhGH replacement and the risk of tumor recurrence in patients with AGHD caused by NFPA or craniopharyngioma. These data add to the mounting evidence that rhGH therapy has a neutral effect on the recurrence of pituitary tumors. Précis Replacement therapy with rhGH is prescribed to patients with adult growth hormone deficiency. Our study found no increased risk of pituitary tumor recurrence.

Decrease of small dense LDL and lipoprotein-associated phospholipase A2 due to human growth hormone treatment in short children with growth hormone deficiency and small for gestational age status

2016 ◽  
Vol 29 (2) ◽  
Author(s):  
Andreas Krebs ◽  
Thomas Kratzin ◽  
Jürgen Doerfer ◽  
Karl Winkler ◽  
Michael Wurm ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Ldl Cholesterol ◽  
Density Lipoprotein ◽  
Human Growth ◽  
Hormone Deficiency ◽  
Cardiovascular Risks ◽  
Small Dense Ldl

AbstractGrowth hormone deficiency (GHD) and small for gestational age (SGA) status are associated with cardiovascular risks. We therefore, investigated antiatherogenic effects of growth hormone (GH).Subfractions of low-density lipoprotein (LDL) and high-density lipoprotein (HDL), lipoprotein-associated phospholipase AThe overall group showed post-treatment reductions of LDL cholesterol (LDL-C) (p=0.016), small-dense LDL cholesterol (sdLDL-C, p<0.001), Lp-PLA2 (p<0.001), and hsCRP (p=0.005), but increase of HDL2a cholesterol (HDL2a-C, p=0.025). SGA children revealed significant correlations between Lp-PLA2 and LDL-C and sdLDL-C both before and after GH, significant reductions of sdLDL-C, Lp-PLA2, hsCRP, and an increase of HDL2a-C. GHD children showed the same lipid responses, though not significantly.Children with GHD or born SGA may benefit from GH by growth acceleration and reduction of cardiovascular long-term risks.

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