scholarly journals Clinical Characteristics and Long-Term Recombinant Human Growth Hormone Treatment of 18q- Syndrome: A Case Report and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Shanshan Liu ◽  
Meiping Chen ◽  
Hongbo Yang ◽  
Shi Chen ◽  
Linjie Wang ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Literature Review ◽  
Short Stature ◽  
Human Growth Hormone ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Average Height ◽  
Characteristic Appearance ◽  
Rhgh Treatment

Background18q- syndrome is a rare chromosomal disease caused by the deletion of the long arm of chromosome 18. Some cases with 18q- syndrome can be combined with growth hormone deficiency (GHD), but data on the efficacy of recombinant human growth hormone (rhGH) treatment in 18q- syndrome are limited.MethodsHere, we report one case of 18q- syndrome successfully treated with long-term rhGH supplement. Previously reported cases in the literature are also reviewed to investigate the karyotype–phenotype relationship and their therapeutic response to rhGH.ResultsA 7.9-year-old girl was referred for evaluation for short stature. Physical exam revealed proportionally short stature with a height of 111.10 cm (−3.02 SD score (SDS)), low-set ears, a high-arched palate, a small jaw, webbed neck, widely spaced nipples, long and tapering fingers, and cubitus valgus. Thyroid function test indicated subclinical hypothyroidism. The peak value of growth hormone was 10.26 ng/ml in the levodopa provocation test. Insulin-like growth factor 1 (IGF-1) was 126 ng/ml (57–316 ng/ml). Other laboratory investigations, including complete blood cell count, liver and kidney function, gonadal function, serum adrenocorticotropin levels, and serum cortisol levels, were all within normal ranges. Karyotype analysis showed 46, XX, del (18) (q21). L-Thyroxine replacement and rhGH treatment were initiated and maintained in the following 7 years. At the age of 14.8, her height has reached 159.5 cm with a height SDS increase of 2.82 SDS (from −3.02 SDS to −0.20 SDS). No significant side effects were found during the treatment. The literature review indicated the average rhGH treatment duration of 16 patients was 5.9 ± 3.3 years, and the average height SDS significantly increased from −3.12 ± 0.94 SDS to −1.38 ± 1.29 SDS after the rhGH treatment (p < 0.0001).ConclusionThe main clinical manifestations of 18q- syndrome include characteristic appearance, intellectual disability, and abnormal genital development. The literature review suggested a significant height benefit for short stature with 18q- syndrome from long-term rhGH treatment.

scholarly journals Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Hui Bo ◽  
Lihong Jiang ◽  
Jiaqi Zheng ◽  
Jie Sun
Keyword(s):  
Growth Hormone ◽  
Literature Review ◽  
Language Development ◽  
Short Stature ◽  
Human Growth Hormone ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Facial Features ◽  
Delayed Language Development ◽  
Floating Harbor Syndrome

Introduction: We aimed to summarize the clinical characteristics of Floating-Harbor syndrome (FHS) and the effect of recombinant human growth hormone (rhGH) to increase height.Methods: The clinical manifestations, gene sequencing results, treatment, and regression of one child with FHS were reported at the Department of Pediatrics, General Hospital of Tianjin Medical University, in July 2020. PubMed was searched using the keyword “Floating-Harbor Syndrome” up to March 2021 to obtain clinical information on children with FHS for review.Results: The child, who was a male aged 6 years and 9 months, presented to the clinic with main complaints of delayed language development since childhood and a short stature for 4 years. The child's short stature, peculiar facial features, delayed language development, and delayed bone development were considered alongside genetic testing and Sanger sequencing to verify the results. A heterozygous mutation (c.7401delC; p.Ile2468Phefs*7) was identified in exon 34 of the SRCAP gene, which was a frameshift mutation, and Sanger verification showed that neither parent had this mutation. The child was administered subcutaneous injection of rhGH (0.13 U/kg/day) and was followed up regularly. At the time of writing, the child had been treated for 6 months and was 7 years and 3 months old with a height of 106.3 cm (−3.69 SDS), which was a height increase of 6.3 cm. The patient did not complain of discomfort during treatment and presented normal laboratory tests results. Twenty-two children with FHS treated with rhGH were included in the literature review, and most of these patients demonstrated an increase in height SDS without adverse effects.Conclusion: Short stature, delayed skeletal maturation, impaired language expression, intellectual deficits, and peculiar facial features are the main clinical features of FHS. rhGH can be used as a treatment to increase height in patients with FHS, but its effectiveness and safety still need to be monitored in larger sample sizes over longer periods of time.

The effect of treatment with recombinant human growth hormone (rhGH) on linear growth and adult height in children with idiopathic short stature (ISS): a systematic review and meta-analysis

2020 ◽  
Vol 33 (12) ◽  
pp. 1577-1588
Author(s):  
George Paltoglou ◽  
Ioannis Dimitropoulos ◽  
Georgia Kourlaba ◽  
Evangelia Charmandari
Keyword(s):  
Systematic Review ◽  
Growth Hormone ◽  
Short Stature ◽  
Human Growth Hormone ◽  
Adult Height ◽  
Linear Growth ◽  
Meta Analysis ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Idiopathic Short Stature

AbstractObjectivesIdiopathic short stature (ISS) is a recognized, albeit a controversial indication for treatment with recombinant human growth hormone (rhGH).The objective of the present study was to conduct a systematic review of the literature and meta-analyses of selected studies about the use of rhGH in children with ISS on linear growth and adult height (AH).MethodsA systematic literature search was conducted to identify relevant studies published till February 28, 2017 in the following databases: Medline (PubMed), Scopus and Cochrane Central Registry of Controlled Trials. After exclusion of duplicate studies, 3,609 studies were initially identified. Of those, 3,497 studies were excluded during the process of assessing the title and/or the abstract. The remaining 112 studies were evaluated further by assessing the full text; 21 of them fulfilled all the criteria in order to be included in the current meta-analysis.ResultsChildren who received rhGH had significantly higher height increment at the end of the first year, an effect that persisted in the second year of treatment and achieved significantly higher AH than the control group. The difference between the two groups was equal to 5.3 cm (95% CI: 3.4–7 cm) for male and 4.7 cm (95% CI: 3.1–6.3 cm) for female patients.ConclusionIn children with ISS, treatment with rhGH improves short-term linear growth and increases AH compared with control subjects. However, the final decision should be made on an individual basis, following detailed diagnostic evaluation and careful consideration of both risks and benefits of rhGH administration.

scholarly journals One-Year Data from a Long-Term Phase IV Study of Recombinant Human Growth Hormone in Short Children Born Small for Gestational Age

2014 ◽  
Vol 4 (1-2) ◽  
pp. 1-13 ◽  
Author(s):  
Hans-Peter Schwarz ◽  
Dorota Birkholz-Walerzak ◽  
Mieczyslaw Szalecki ◽  
Mieczyslaw Walczak ◽  
Corina Galesanu ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Human Growth Hormone ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Short Children ◽  
One Year ◽  
Phase Iv

Final Height of Idiopathic Short Stature Children Treated with Recombinant Human Growth Hormone (rhGH)

2011 ◽  
pp. P1-747-P1-747
Author(s):  
Thais C Martins ◽  
Cristiane N Lauretti ◽  
Ivo JP Arnhold ◽  
Berenice B Mendonca ◽  
Alexander AL Jorge
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Human Growth Hormone ◽  
Final Height ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Idiopathic Short Stature

Treatment of Short Stature in Aggrecan Deficient Patients with Recombinant Human Growth Hormone: One-Year Response

2021 ◽  
Author(s):  
Gajanthan Muthuvel ◽  
Andrew Dauber ◽  
Eirene Alexandrou ◽  
Leah Tyzinski ◽  
Melissa Andrew ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Human Growth Hormone ◽  
Linear Growth ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Skeletal Maturation ◽  
Height Velocity ◽  
Heterozygous Mutation ◽  
One Year

Abstract Context Patients with aggrecan (ACAN) deficiency present with dominantly inherited short stature, often with advanced skeletal maturation and premature growth cessation. There is a paucity of information on the effects of growth-promoting interventions. Objective The aim of this study was to evaluate the efficacy and safety of recombinant human growth hormone (rhGH) therapy on linear growth in children with ACAN deficiency. Design and Setting Open-label, single-arm, prospective study at Cincinnati Children’s Hospital Medical Center. Patients Ten treatment-naïve patients were recruited. Inclusion criteria were: a confirmed heterozygous mutation in ACAN, age ≥ 2 years, pre-pubertal, bone age (BA) ≥ chronological age (CA), and normal IGF-I concentration. Intervention Treatment with rhGH (50 mcg/kg/day) over one year. Main Outcome Measure(s) Main outcomes measured were height velocity (HV) and change in (Δ) height SD (HtSDS). Results Ten patients (six females) were enrolled with median CA of 5.6 yrs (range 2.4 to 9.7). Baseline median HtSDS was -2.5 (range -4.3 to -1.1). Median baseline BA was 6.9 yrs (range 2.5 to 10.0), with median BA/CA of 1.2 (range 0.9 to 1.5). Median pre-treatment HV was 5.2 cm/y (range 3.8 to 7.1), increased to 8.3 cm/y (range 7.3 to 11.2) after one year of therapy (p=0.004). Median ΔHtSDS after one year was +0.62 (range +0.35 to +1.39) (p=0.002). Skeletal maturation did not advance inappropriately (median Δ BA/CA -0.1, p=0.09). No adverse events related to rhGH were observed. Conclusion Treatment with rhGH improved linear growth in a cohort of patients with short stature due to ACAN deficiency.

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.

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