IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene

HORMONES ◽  
2013 ◽  
Vol 12 (1) ◽  
pp. 86-92 ◽  
Author(s):  
Silvano Bertelloni ◽  
Giampiero I. Baroncelli ◽  
Eleonora Dati ◽  
Silvia Ghione ◽  
Fulvia Baldinotti ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Ptpn11 Gene ◽  
Prepubertal Children ◽  
Igf I ◽  
Generation Test

scholarly journals PTPN11 (Protein Tyrosine Phosphatase, Nonreceptor Type 11) Mutations and Response to Growth Hormone Therapy in Children with Noonan Syndrome

2005 ◽  
Vol 90 (9) ◽  
pp. 5156-5160 ◽  
Author(s):  
Lize V. Ferreira ◽  
Silvia A. L. Souza ◽  
Ivo J. P. Arnhold ◽  
Berenice B. Mendonca ◽  
Alexander A. L. Jorge
Keyword(s):  
Outcome Measures ◽  
Protein Tyrosine Phosphatase ◽  
Noonan Syndrome ◽  
Tyrosine Phosphatase ◽  
University Hospital ◽  
Ptpn11 Gene ◽  
Protein Tyrosine ◽  
Igf I ◽  
Src Homology

Abstract Context: The cause of growth impairment in Noonan syndrome (NS) remains unclear. Mutations in PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) that codify constitutively activated Src homology protein tyrosine phosphatase-2 tyrosine phosphatase and may interfere with GH and IGF-I signaling were identified in approximately 40% of patients with NS. Objective: The objective of this study was to evaluate the influence of PTPN11 status on response to human GH (hGH) treatment in NS children with short stature. Setting: This study was performed at a university hospital. Design: The study design was to conduct a retrospective analysis of 3 yr of hGH treatment and genotyping of PTPN11 in patients with NS. Patients: Fourteen NS patients, half of them with PTPN11 mutations in heterozygous state, were studied. At the beginning of treatment, there were no clinical or laboratory differences between groups with and without mutations in the PTPN11 gene. Intervention: Patients were treated with hGH (47 μg/kg·d). Main Outcome Measures: The main outcome measures were PTPN11 genotype, change in IGF-I levels, and change in height sd score. Results: Patients with mutations in PTPN11 presented a significantly smaller increment in IGF-I levels during the treatment compared with patients without mutations (86 ± 67 and 202 ± 93 μg/liter, respectively; P = 0.03). hGH treatment significantly improved growth velocity in both groups, with slightly better results observed in patients without mutations. This was translated into greater gains in height sd score relation to baseline during the 3 yr of treatment in patients without mutations (+1.7 ± 0.1) compared with those with mutations (+0.8 ± 0.4; P < 0.01). Conclusions: Our findings suggest that the presence of PTPN11 mutations in patients with NS indicates a reduced growth response to long-term hGH 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.

scholarly journals Central giant cell lesions with an unusual behavior in patient with Noonan syndrome: A case report with 8-year follow-up

2021 ◽  
Vol 10 (1) ◽  
pp. e13510111563
Author(s):  
Gleysson Matias de Assis ◽  
Marcelo Leite Machado da Silveira ◽  
José Wittor de Macêdo Santos ◽  
Humberto Pereira Chaves Neto ◽  
Lucas Melo da Costa ◽  
...  
Keyword(s):  
Giant Cell ◽  
Noonan Syndrome ◽  
Pulmonary Stenosis ◽  
Clinical Information ◽  
Patient Discharge ◽  
Blood Analysis ◽  
Unusual Behavior ◽  
Ptpn11 Gene ◽  
Mandibular Injuries

This study describes a patient with Noonan syndrome affected by multiple Central Giant Cell Lesions (CGCL) in jaws. The lesions presented an unusual behavior since there was no regression size after puberty. The syndrome was diagnosed by collecting clinical information, represented by ocular hypertelorism, low insertion of ears, pulmonary stenosis, cryptorchidism, cardiac abnormalities, short stature, multiple CGCL in the jaws, and blood analysis that found a mutation of the PTPN11 gene. The treatment consisted of systemic calcitonin for a period of 14 months and three surgical procedures at distinct moments. The patient is currently with 20 years and in the eighth-year of follow-up. Although he presented an improvement in deformity, radiological findings showed remodeling without resolution of mandibular injuries, making it clear that injuries will did not always regress after puberty and not confirm previously publications in the literature. We therefore advocate a larger time of follow-up before patient discharge in these cases.

Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations

2010 ◽  
Vol 152A (11) ◽  
pp. 2768-2774 ◽  
Author(s):  
Murat Derbent ◽  
Yekta Oncel ◽  
Kürşad Tokel ◽  
Birgül Varan ◽  
Ayşegül Haberal ◽  
...  
Keyword(s):  
Noonan Syndrome ◽  
Gene Mutations ◽  
Ptpn11 Gene

Changes in serum IGF‐I and IGFBP‐3 concen_trations during the IGF‐I generation test performed prospectively in children with short stature

1998 ◽  
Vol 48 (6) ◽  
pp. 719-724 ◽  
Author(s):  
Andrew M. Cotterill ◽  
Cecilia Camacho‐Hübner ◽  
Philippe Duquesnoy ◽  
Martin O. Savage
Keyword(s):  
Short Stature ◽  
Igf I ◽  
Generation Test ◽  
Igfbp 3

scholarly journals Prolonged thrombocytopenia in a neonate with Noonan syndrome: a case report

2020 ◽  
Vol 48 (8) ◽  
pp. 030006052093644
Author(s):  
Meng Li ◽  
Jinghui Zhang ◽  
Nianzheng Sun
Keyword(s):  
Platelet Count ◽  
Case Report ◽  
Noonan Syndrome ◽  
Immune Thrombocytopenia ◽  
Perinatal Asphyxia ◽  
Juvenile Myelomonocytic Leukemia ◽  
Normal Range ◽  
Ptpn11 Gene ◽  
Alloimmune Thrombocytopenia ◽  
Myelomonocytic Leukemia

We report a case of a Chinese neonate who was diagnosed with Noonan syndrome and had persistent, self-limited thrombocytopenia. The neonate was admitted to the Neonatology Department 20 minutes after birth because of respiratory distress. From birth until 2 months of age, platelet values fluctuated between approximately 6 and 30 × 109/L. There was no intracranial hemorrhage. However, the child had a transient hypocalcemic seizure and fever. We excluded thrombocytopenia caused by perinatal asphyxia, immune thrombocytopenia, fetomaternal alloimmune thrombocytopenia, juvenile myelomonocytic leukemia, and chromosome 13, 18, and 21 trisomy syndromes. Despite treatment with anti-infective agents and transfusion of platelets and immunoglobulin, the platelet count did not return to the normal range. Genetic testing confirmed a PTPN11 gene mutation, which led to the diagnosis of Noonan syndrome. At 3 months of age, the platelet count gradually increased without intervention and returned to the normal range by 6 months. We speculate that the thrombocytopenia in this case was closely related to Noonan syndrome.

scholarly journals Activating Mutations of the Noonan Syndrome-Associated SHP2/PTPN11 Gene in Human Solid Tumors and Adult Acute Myelogenous Leukemia

2004 ◽  
Vol 64 (24) ◽  
pp. 8816-8820 ◽  
Author(s):  
Mohamed Bentires-Alj ◽  
J. Guillermo Paez ◽  
Frank S. David ◽  
Heike Keilhack ◽  
Balazs Halmos ◽  
...  
Keyword(s):  
Solid Tumors ◽  
Acute Myelogenous Leukemia ◽  
Noonan Syndrome ◽  
Myelogenous Leukemia ◽  
Ptpn11 Gene ◽  
Activating Mutations ◽  
Human Solid Tumors ◽  
Acute Myelogenous

scholarly journals Serum Levels of Ghrelin, Leptin, IGF-I, IGFBP-3, Insulin, Thyroid Hormones and Cortisol in Prepubertal Children with Iron Deficiency

2007 ◽  
Vol 54 (6) ◽  
pp. 985-990 ◽  
Author(s):  
Pinar ISGUVEN ◽  
Ilknur ARSLANOGLU ◽  
Melih EROL ◽  
Metin YILDIZ ◽  
Erdal ADAL ◽  
...  
Keyword(s):  
Iron Deficiency ◽  
Thyroid Hormones ◽  
Serum Levels ◽  
Prepubertal Children ◽  
Igf I ◽  
Igfbp 3

Response to IGF-1 Generation Test in Short Prepubertal Children Born Very Preterm or at Term

2015 ◽  
Vol 84 (5) ◽  
pp. 298-304 ◽  
Author(s):  
Harriet L. Miles ◽  
José G.B. Derraik ◽  
Valentina Chiavaroli ◽  
Paul L. Hofman ◽  
Wayne S. Cutfield
Keyword(s):  
Prepubertal Children ◽  
Very Preterm ◽  
Generation Test
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