Symptoma

Short Stature due to Endocrine Disorder

Short stature due to Disorder of the Endocrine System

At least 21 patients with ALS deficiency have been described presenting 16 different homozygous or compound heterozygous inactivating mutations of the IGFALS gene. [ncbi.nlm.nih.gov]

Partial gonadal dysfunction and osteoporosis may also be present. [orpha.net]

In conclusion, the results of the present study demonstrated that cetuximab blocked EGRF while concurrently inducing activation of IGF-IR and Src. [spandidos-publications.com]

  • Short Finger

    Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum). [orpha.net]

  • Sepsis

    Insulin-like growth factor I production is inhibited in human sepsis. Arch Surg. 1988; 123:1409-14. Maes M, Underwood LE, Ketelslegers JM. [annals.org]

  • Nausea

    All patients were able to tolerate the maximum dosage of liraglutide (1.8 mg once daily), except one patient who continued with a dose of 1.2 mg/day because of persistent nausea. [doi.org]

  • Myalgia

    In the last 2 to 3 weeks, however, adverse effects appeared, including arthralgia in his hips and knees, generalized myalgia, exhaustion, lower back pain, and chills for up to 30 minutes several times each day. [annals.org]

  • Hip Pain

    Four of the 48 patients receiving the higher dose experienced effects consistent with GH excess, such as enlarging shoe size, ankle swelling, and hip pain. [karger.com]

  • Hearing Impairment

    impairment 0008619 Congenital sensorineural hearing impairment 0008527 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Insulin resistance Body fails to respond to insulin 0000855 Intellectual disability, mild Mental retardation, [rarediseases.info.nih.gov]

  • Withdrawn

    In all cases, after obtaining an informed written consent from the subjects' parents, 5 ml of venous blood was withdrawn for measurement of IGF-1 and serum ferritin. [thefreelibrary.com]

  • Hyperactivity

    Showing of 45 80%-99% of people have these symptoms Abnormal facial shape Unusual facial appearance 0001999 Attention deficit hyperactivity disorder Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits [rarediseases.info.nih.gov]

  • Renal Insufficiency

    It occurs at an overall incidence of 28 per 100,000 treatment-years, with a higher rate among patients with chronic renal insufficiency, Turner syndrome, and organic GHD, and at a lower rate in patients with ISS. [karger.com]

  • Glycosuria

    Daily fasting and preprandial glucose measurements continued to range from 11.1 to 27.8 mmol/L and polyuria, glycosuria, and ketonuria persisted. [annals.org]

Treatment with these agents is associated with improved glucose control and weight loss ( 7 ). [doi.org]

Experience with IGF-I treatment is limited and the risks of long-term treatment are not known. [annals.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Furthermore, the combination treatment reduced colony formation in MGC803 cells relative to that of treatment with cetuximab alone ( Fig. 5C ). [spandidos-publications.com]

Prognosis Prognosis varies depending on the underlying molecular anomaly. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis Prognosis varies depending on the underlying molecular anomaly. Last updated: 5/22/2008 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]

PMID: 25465274 Prognosis Dizdarević-Hudić L, Kusljugić Z, Baraković F, Hajder M, Hudić I Acta Clin Croat 2016 Sep;55(3):345-353. doi: 10.20471/acc.2016.55.03.01. [ncbi.nlm.nih.gov]

Variants in the ER gene may also explain paradoxical observations on the association between tumour ER expression and breast cancer prognosis after primary treatment. [annonc.oxfordjournals.org]

We suggest sex steroid priming prior to provocative GH testing in prepubertal boys older than 11 and in prepubertal girls older than 10 years with AH prognosis within -2 SD of the reference population mean in order to prevent unnecessary GH treatment [karger.com]

Etiology IGF-I deficiency is caused by homozygous mutations in the insulin-like growth factor 1 gene ( IGFI ; 12q22-q24.1). IGF-I is essential for foetal and postnatal growth, brain development and metabolism. [orpha.net]

Etiology IGF-I resistance may be caused by a variety of genetic defects: ring chromosome 15, distal heterozygous 15q deletions encompassing the IGF1R gene (15q26.3), or IGF1R gene mutations. [rarediseases.info.nih.gov]

Etiology Kujawska-Luczak M, Szulinska M, Skrypnik D, Musialik K, Swora-Cwynar E, Kregielska-Narozna M, Markuszewski L, Grzymislawska M, Bogdanski P J Physiol Pharmacol 2018 Oct;69(5) Epub 2019 Jan 21 doi: 10.26402/jpp.2018.5.08. [ncbi.nlm.nih.gov]

Summary Epidemiology The syndrome is extremely rare and only four cases have been reported in the literature so far. Clinical description Addition clinical features include microcephaly, adiposity, and insulin resistance. [orpha.net]

Relevant External Links for IGF1 Genetic Association Database (GAD) IGF1 Human Genome Epidemiology (HuGE) Navigator IGF1 Tumor Gene Database (TGDB): IGF1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: IGF1 No data available for Genatlas [genecards.org]

Epidemiology Prevalence is unknown. Etiology IGF-I resistance may be caused by a variety of genetic defects: ring chromosome 15, distal heterozygous 15q deletions encompassing the IGF1R gene (15q26.3), or IGF1R gene mutations. [rarediseases.info.nih.gov]

Pathophysiology/Complications Abstract OBJECTIVE Obesity is associated with an increased risk of type 2 diabetes and cardiovascular complications. The risk depends significantly on adipose tissue distribution. [doi.org]

(Ungraded good practice statement) Pathophysiological and epidemiological observations prompt concern that GH might increase risk of malignancy during or after therapy. [karger.com]

The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage of IGF-I to the extravascular compartment. [ncbi.nlm.nih.gov]

Conclusions Intervention trials in breast cancer prevention would greatly benefit from surrogate response markers which could predict long-term benefit. [annonc.oxfordjournals.org]

Another limitation is the lack of postintervention follow-up, which prevented assessment of the durability of our findings, in particular on adipose tissue distribution. [doi.org]

If these findings are confirmed by others, the plasma concentration of IGFBP-3 could be used to improve the accuracy of predictive models of dementia and as a potential new factor to assist in the development of prevention and treatment strategies. [nature.com]

The consensus panel endorses harm prevention in the treatment of children with GH. [karger.com]