scholarly journals Benefits and challenges in conducting long-term growth hormone therapy in patients with Prader-Willi syndrome

Genetika ◽  
2020 ◽  
Vol 52 (1) ◽  
pp. 149-160
Author(s):  
Olga Antonova ◽  
Hadil Kathom ◽  
Evgeni Grigorov ◽  
Rada Staneva ◽  
Savina Hadjidekova ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Statistical Analysis ◽  
Uniparental Disomy ◽  
Prader Willi Syndrome ◽  
Gh Treatment ◽  
Maternal Uniparental Disomy ◽  
Significant Difference ◽  
Genetic Mechanisms ◽  
Post Hoc

The purpose of this report is to comment the results from long-term growth hormone (GH) treatment of Bulgarian patients suffering from rare genetic disease-Prader-Willi syndrome (PWS) with reference to the age, body composition, complications and genetic etiology. Statistical analysis was performed by ANOVA with post hoc Kruskal-Wallis test and Dunn's multiple comparison tests. In 90% of the patients maternal uniparental disomy (mUPD) was found to be the cause of the disease. No cases due to imprinting defects are found. The BMI data shows no statistically significant difference between BMI at diagnosis (21.850), at the beginning of the GH therapy (21.852) and current BMI (24.09) - measured under the GH background. Early GH treatment allows to overcome arising obstacles in time and to improve the quality of life for PWS children and their families. During the fourteen years study period only ten patients were diagnosed with the disease. Ninety percent (n=9) of the children were found to be with maternal UPD (mUPD) and only one case was due to deletion in 15q11-13. These results are in agreement with other studies in the field which shows the need for reassessment and new robust statistical analysis of the frequency of genetic mechanisms for PWS.

Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study

2019 ◽  
Vol 32 (8) ◽  
pp. 879-884 ◽  
Author(s):  
Raquel Corripio ◽  
Carla Tubau ◽  
Laura Calvo ◽  
Carme Brun ◽  
Núria Capdevila ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Prospective Study ◽  
Mixed Model ◽  
Standard Deviation Score ◽  
Uniparental Disomy ◽  
Chromosome 15 ◽  
Prader Willi Syndrome ◽  
Gh Treatment ◽  
Maternal Uniparental Disomy ◽  
A Prospective Study

Abstract Background There is little evidence of the effects of early treatment with growth hormone (GH) in infants with Prader-Willi syndrome (PWS). A prospective study was conducted to assess the safety of GH therapy in infants younger than 2 years of age with PWS. Methods A total of 14 patients with PWS started treatment with GH under the age of 2 years and were followed over a 2-year period. A deletion of chromosome 15 was present in nine infants (64.3%) and maternal uniparental disomy 15 in five infants (35.7%). The median age at start of GH treatment was 9.6 months (interquartile range [IQR] 9.0–18.3 months). Changes in height standard deviation score (SDS), body mass index (BMI) SDS and subcapsular and tricipital skinfolds in the follow-up period were evaluated with a mixed-model regression analysis using the Package R. Results There were no fatal adverse events. A significant decrease (p < 0.001) in tricipital and subcapsular skinfold thickness, with an upward trend of height SDS and a downward trend of BMI SDS, was observed. Infants who started GH before 15 months of age started walking at a median of 18.0 [17.0–19.5] months vs. 36.6 [36.3–37.8] months for those who began treatment with GH after 15 months of age (p = 0.024). Conclusions GH treatment in infants with PWS less than 2 years of age is safe and improved body composition. Infants who received GH before the age of 15 months started to walk earlier.

scholarly journals Correlation of Genotype and Perinatal Period, Time of Diagnosis and Anthropometric Data before Commencement of Recombinant Human Growth Hormone Treatment in Polish Patients with Prader–Willi Syndrome

Diagnostics ◽  
2021 ◽  
Vol 11 (5) ◽  
pp. 798
Author(s):  
Agnieszka Lecka-Ambroziak ◽  
Marta Wysocka-Mincewicz ◽  
Katarzyna Doleżal-Ołtarzewska ◽  
Agata Zygmunt-Górska ◽  
Teresa Żak ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Human Growth Hormone ◽  
Recombinant Human Growth Hormone ◽  
Uniparental Disomy ◽  
Genetic Diagnosis ◽  
Human Growth ◽  
Prader Willi Syndrome ◽  
Maternal Uniparental Disomy ◽  
Group 3 ◽  
Group 1

Genotype–phenotype correlation in patients with Prader–Willi syndrome (PWS) has still not been fully described. We retrospectively analysed data of 147 patients and compared groups according to genetic diagnosis: paternal deletion of chromosome 15q11-q13 (DEL 15, n = 81), maternal uniparental disomy (UPD 15, n = 10), excluded DEL 15 (UPD 15 or imprinting centre defect, UPD/ID, n = 30). Group DEL 15 had an earlier genetic diagnosis and recombinant human growth hormone (rhGH) start (p = 0.00), with a higher insulin-like growth factor 1 (IGF1) level compared to group UPD/ID (p = 0.04). Among perinatal characteristics, there was only a tendency towards lower birth weight SDS in group UPD 15 (p = 0.06). We also compared data at rhGH start in relation to genetic diagnosis age—group 1: age ≤9 months, group 2: >9 months ≤ 2 years, group 3: > 2 years. Group 1 had the earliest rhGH start (p = 0.00), with lower body mass index (BMI) SDS (p = 0.00) and a tendency towards a higher IGF1 level compared to group 3 (p = 0.05). Genetic background in children with PWS is related to time of diagnosis and rhGH start, with a difference in IGF1 level before the therapy, but it seems to have little impact on perinatal data. Early genetic diagnosis leads to early rhGH treatment with favourable lower BMI SDS.

scholarly journals Hyperprolactinemia in Adults with Prader-Willi Syndrome

2021 ◽  
Vol 10 (16) ◽  
pp. 3613
Author(s):  
Anna Sjöström ◽  
Karlijn Pellikaan ◽  
Henrik Sjöström ◽  
Anthony P. Goldstone ◽  
Graziano Grugni ◽  
...  
Keyword(s):  
Genetic Disorder ◽  
Uniparental Disomy ◽  
Prader Willi Syndrome ◽  
Thyroid Function Tests ◽  
Long Term Effects ◽  
Antipsychotic Medications ◽  
Maternal Uniparental Disomy ◽  
Clinical Consequences ◽  
Kidney Insufficiency

Prader-Willi syndrome (PWS) is a rare neurodevelopmental genetic disorder typically characterized by body composition abnormalities, hyperphagia, behavioural challenges, cognitive dysfunction, and hypogonadism. Psychotic illness is common, particularly in patients with maternal uniparental disomy (mUPD), and antipsychotic medications can result in hyperprolactinemia. Information about hyperprolactinemia and its potential clinical consequences in PWS is sparse. Here, we present data from an international, observational study of 45 adults with PWS and hyperprolactinemia. Estimated prevalence of hyperprolactinemia in a subset of centres with available data was 22%, with 66% of those related to medication and 55% due to antipsychotics. Thirty-three patients were men, 12 women. Median age was 29 years, median BMI 29.8 kg/m2, 13 had mUPD. Median prolactin was 680 mIU/L (range 329–5702). Prolactin levels were higher in women and patients with mUPD, with only 3 patients having severe hyperprolactinemia. Thyroid function tests were normal, 24 were treated with growth hormone, 29 with sex steroids, and 20 with antipsychotic medications. One patient had kidney insufficiency, and one a microprolactinoma. In conclusion, severe hyperprolactinemia was rare, and the most common aetiology of hyperprolactinemia was treatment with antipsychotic medications. Although significant clinical consequences could not be determined, potential negative long-term effects of moderate or severe hyperprolactinemia cannot be excluded. Our results suggest including measurements of prolactin in the follow-up of adults with PWS, especially in those on treatment with antipsychotics.

Comparative Analysis of Patients with Robotic Hiatal Hernia Repairs with and without Collis Gastroplasty

2021 ◽  
pp. 000313482198905
Author(s):  
John A. Perrone ◽  
Stephanie Yee ◽  
Manrique Guerrero ◽  
Antai Wang ◽  
Brian Hanley ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Statistical Analysis ◽  
Hospital Stay ◽  
Hiatal Hernia ◽  
Collis Gastroplasty ◽  
Significant Difference ◽  
Related Quality

Introduction After extensive mediastinal dissection fails to achieve adequate intra-abdominal esophageal length, a Collis gastroplasty(CG) is recommended to decrease axial tension and reduce hiatal hernia recurrence. However, concerns exist about staple line leak, and long-term symptoms of heartburn and dysphagia due to the acid-producing neoesophagus which lacks peristaltic activity. This study aimed to assess long-term satisfaction and GERD-related quality of life after robotic fundoplication with CG (wedge fundectomy technique) and to compare outcomes to patients who underwent fundoplication without CG. Outcomes studied included patient satisfaction, resumption of proton pump inhibitors (PPI), length of surgery (LOS), hospital stay, and reintervention. Methods This was a single-center retrospective analysis of patients from January 2017 through December 2018 undergoing elective robotic hiatal hernia repair and fundoplication. 61 patients were contacted for follow-up, of which 20 responded. Of those 20 patients, 7 had a CG performed during surgery while 13 did not. There was no significant difference in size and type of hiatal hernias in the 2 groups. These patients agreed to give their feedback via a GERD health-related quality of life (GERD HRQL) questionnaire. Their medical records were reviewed for LOS, length of hospital stay (LOH), and reintervention needed. Statistical analysis was performed using SPSS v 25. Satisfaction and need for PPIs were compared between the treatment and control groups using the chi-square test of independence. Results Statistical analysis showed that satisfaction with outcome and PPI resumption was not significantly different between both groups ( P > .05). There was a significant difference in the average ranks between the 2 groups for the question on postoperative dysphagia on the follow-up GERD HRQL questionnaire, with the group with CG reporting no dysphagia. There were no significant differences in the average ranks between the 2 groups for the remaining 15 questions ( P > .05). The median LOS was longer in patients who had a CG compared to patients who did not (250 vs. 148 min) ( P = .01). The LOH stay was not significantly different ( P > .05) with a median length of stay of 2 days observed in both groups. There were no leaks in the Collis group and no reoperations, conversions, or blood transfusions needed in either group. Conclusion Collis gastroplasty is a safe option to utilize for short esophagus noted despite extensive mediastinal mobilization and does not adversely affect the LOH stay, need for reoperation, or patient long-term satisfaction.

scholarly journals Time for a general approval of growth hormone treatment in adults with Prader–Willi syndrome

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Charlotte Höybye ◽  
◽  
Anthony J. Holland ◽  
Daniel J. Driscoll
Keyword(s):  
Growth Hormone ◽  
Body Composition ◽  
Transition Period ◽  
Neurodevelopmental Disorder ◽  
Hormone Treatment ◽  
Psychomotor Development ◽  
Prader Willi Syndrome ◽  
Gh Treatment ◽  
Beneficial Effects ◽  
Positive Effects

AbstractPrader-Willi syndrome (PWS) is a complex, multi-system, neurodevelopmental disorder characterised by neonatal muscular hypotonia, short stature, high risk of obesity, hypogonadism, intellectual disabilities, distinct behavioural/psychiatric problems and abnormal body composition with increased body fat and a deficit of lean body mass. Growth hormone (GH) deficiency and other hormone deficiencies are common due to hypothalamic dysfunction. In children with PWS GH treatment has been widely demonstrated to improve body composition, normalise height and improve psychomotor development. In adults with PWS, GH’s main effects are to maintain normal body structure and metabolism. The positive effects of GH treatment on body composition, physical fitness and beneficial effects on cardiovascular risk markers, behaviour and quality of life in adults with PWS are also well established from several studies. GH treatment is approved for treatment of children with PWS in many countries, but until recently not as a treatment in young adults in the transition period or for adults in general. In this commentary we want to draw attention to the uneven global use of GH treatment, specifically in adults with PWS, and advocate for GH treatment to be approved internationally, not just for children, but also for adults with PWS and based only on the diagnosis of genetically confirmed PWS.

Efficacy of long-term growth hormone therapy in short non-growth hormone-deficient children

2017 ◽  
Vol 30 (2) ◽  
Author(s):  
Lucia Schena ◽  
Cristina Meazza ◽  
Sara Pagani ◽  
Valeria Paganelli ◽  
Elena Bozzola ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Final Height ◽  
Standard Deviation Score ◽  
Bone Age ◽  
Gh Treatment ◽  
Short Children ◽  
Igf I ◽  
Height Gain ◽  
The Cost

AbstractBackground:In recent years, several studies have been published showing different responses to growth hormone (GH) treatment in idiopathic short stature children. The aim of the present study was to investigate whether non-growth-hormone-deficient (non-GHD) short children could benefit from long-term GH treatment as GHD patients.Methods:We enrolled 22 prepubertal children and 22 age- and sex-matched GHD patients, with comparable height, body mass index (BMI), bone age, and insulin-like growth factor 1 (IGF-I) circulating levels. The patients were treated with recombinant human GH (rhGH) and followed until they reach adult height.Results:During GH treatment, the two groups grew in parallel, reaching the same final height-standard deviation score (SDS) and the same height gain. On the contrary, we found significantly lower IGF-I serum concentrations in non-GHD patients than in GHD ones, at the end of therapy (p=0.0055).Conclusions:In our study, the response to GH treatment in short non-GHD patients proved to be similar to that in GHD ones. However, a careful selection of short non-GHD children to be treated with GH would better justify the cost of long-term GH therapy.

Growth Hormone (GH) treatment in adults with Prader-Willi Syndrome (PWS) restores plasma kisspeptin to normal levels

2021 ◽  
Author(s):  
Giménez-Palop Olga ◽  
Laia Casamitjana ◽  
Raquel Corripio ◽  
Pareja Rocío ◽  
Joan Carles Oliva ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Prader Willi Syndrome ◽  
Gh Treatment

Impact of Overweight on Effectiveness of Treatment with Human Growth Hormone in Growth Hormone Deficient Children: Analysis of German KIGS Data

2011 ◽  
Vol 119 (09) ◽  
pp. 544-548 ◽  
Author(s):  
T. Reinehr ◽  
S. Bechtold-Dalla Pozza ◽  
M. Bettendorf ◽  
H.-G. Doerr ◽  
B. Gohlke ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Velocity ◽  
Normal Weight ◽  
First Year ◽  
Overweight Children ◽  
Gh Treatment ◽  
Prepubertal Children ◽  
Significant Difference ◽  
Igf I ◽  
Group A

AbstractWe hypothesized that overweight children with growth hormone deficiency (GHD) demonstrate a lower response to growth hormone (GH) as a result of a misclassification since obesity is associated with lower GH peaks in stimulation tests.Anthropometric data, response, and responsiveness to GH in the first year of treatment were compared in 1.712 prepubertal children with GHD from the German KIGS database according to BMI (underweight=group A, normal weight=group B, overweight=group C) (median age: group A, B, C: 7.3, 7.28, and 8.4 years).Maximum GH levels to tests (median: group A, B, C: 5.8, 5.8, and 4.0 µg/ml) were significantly lower in group C. IGF-I SDS levels were not different between the groups. Growth velocity in the first year of GH treatment was significantly lower in the underweight cohort (median: group A, B, C: 8.2, 8.8, and 9.0 cm/yr), while the gain in height was not different between groups. The difference between observed and predicted growth velocity expressed as Studentized residuals was not significantly different between groups. Separating the 164 overweight children into obese children (BMI>97th centile; n=71) and moderate overweight children (BMI>90th to 97th centile, n=93) demonstrated no significant difference in any parameter.Overweight prepubertal children with idiopathic GHD demonstrated similar levels of responsiveness to GH treatment compared to normal weight children. Furthermore, the IGF-I levels were low in overweight children. Therefore, a misclassification of GHD in overweight prepubertal children within the KIGS database seems unlikely. The first year growth prediction models can be applied to overweight and obese GHD children.

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