Edit concept Question Editor Create issue ticket

Insulin-Like Growth Factor Type 1 Deficiency

IGF-1 Deficiency


Presentation

  • Partial gonadal dysfunction and osteoporosis may also be present.[orpha.net]
  • CASE PRESENTATION: We report here the case of a 2-year-old Moroccan girl with a de novo duplication of 9p24 to p12.[ncbi.nlm.nih.gov]
  • Case presentation: We report here the case of a 2-year-old Moroccan girl with a de novo duplication of 9p24 to p12.[cyberleninka.org]
  • A liver iron concentration 7 mg/g dry weight was present in 15.8 % of diabetic TM patients and none of the non-diabetic TM patients.[mjhid.org]
Short Stature
  • Diagnosis of endocrine disease: limitations of the IGF1 generation test in children with short stature. Eur J Endocrinol. 2012; 166(3): 351–357. Ranke MB, Savage MO, Chatelain PG.[journals.viamedica.pl]
  • short stature [ 194, 195 ].[karger.com]
  • Clinically, this condition is characterized by mental retardation, short stature, developmental delay, facial dysmorphism, hand and toe anomalies, heart defects and/or ocular manifestations.[ncbi.nlm.nih.gov]
  • Short stature has been reported infrequently in these patients, and IGF-1 deficiency specifically has only been seen twice before [19, 20].[cyberleninka.org]
Fatigue
  • Anxiety and/or depression Baldness (in men) Decrease in sexual function and interest Decreased muscle mass and strength Difficult to concentration and lack of memory Dry, thin skin Elevated triglyceride levels Fatigue and/or tiredness Heart problems High[endocrineweb.com]
  • In adults, abnormally low levels of GH and/or IGF-1 may cause subtle, nonspecific symptoms such as: Decreased bone density Fatigue Adverse lipid changes Reduced exercise tolerance.[labtestsonline.org.au]
  • Other signs and symptoms may include: Deepened, husky voice Enlarged organs (liver, heart, kidneys, and spleen) Enlarged tongue Erectile dysfunction Fatigue Headaches and visual disturbances Joint pain and swelling Menstrual cycle irregularities Muscle[labtestsonline.org]
  • GH deficiency in adults is associated with fatigue, decreased energy, depressed mood, decreased muscle strength, decreased muscle mass, thin and dry skin, increased adipose tissue, and decreased bone density.[britannica.com]
  • […] producing pituitary adenomas and total remission following resection in one and surgery followed by treatment with Sandostatin in the other Case report 1 A 56-year-old Caucasian man was admitted with recent history of polyuria, polydipsia, nycturia, fatigue[oatext.com]
Short Stature in Children
  • A two year observation of the process of applying recombinant IGF-1 to treat short stature in children with primary IGF-1 deficiency — case reports of 3 patients. Pediatr Endocrinol Diabetes Metab. 2011; 17(4): 233–238.[journals.viamedica.pl]
  • Stature on Children and Adolescents » Download a printable version of the Frequently Asked Questions when Beginning Growth Hormone Therapy brochure » Click here for member benefits or to join The MAGIC Foundation » "LIKE" The MAGIC Foundation's Facebook[magicfoundation.org]
  • Richter-Unruh A, Knauer-Fischer S, Kaspers S, Albrecht B, Gillessen-Kaesbach G, Hauffa BP: Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment.[karger.com]
  • Iplex is also being investigated for various other indications, including extreme insulin resistance, myotonic muscular dystrophy, HIV-associated adipose redistribution syndrome (HARS), and short stature in children with primary IGFD associated with Noonan[aetna.com]
  • stature in children with GH insensitivity.[academic.oup.com]
Poor Feeding
  • Manifestations of PMM2-CDG are multisystemic and include psychomotor retardation, seizures, cardiomyopathy, coagulopathies, protein-losing enteropathy, liver disease, poor feeding, and failure to thrive. 6 A combination of poor nutritional status and[journals.sagepub.com]
Hypoplastic Nails
  • However, she lacked hypoplastic nails, brachydactyly and strabismus. Only our patient presented with umbilical hernia, which is an uncommon finding and rarely reported [ 18 ].[ncbi.nlm.nih.gov]
  • […] nose, downturned corners of the mouth, cleft lip and palate, - Smallhands and feet, hypoplastic nails Tsezou et al., 2000 [4] Case 1 Case 2 p12-p24 tandem - Brachycephaly - Psychomotor delay - High forehead, hypertelorism, epicanthus, deep-set eyes,[cyberleninka.org]
Antimongoloid Slant
  • . - Growth hormone deficiency Cuoco et al, 19í 82 [16] p12-p24 tandem - Short stature, psychomotor retardation, puberty delay, Mentalretardation - Hypertelorism, deep-set eyes, convergent strabismus, antimongoloid slant of eyes, malformed protruding ears[cyberleninka.org]
  • ., 1982 [ 16 ] p12-p24 tandem - Short stature, psychomotor retardation, puberty delay, Mental retardation - Hypertelorism, deep-set eyes, convergent strabismus, antimongoloid slant of eyes, malformed protruding ears, downturned corners of the mouth, dental[ncbi.nlm.nih.gov]
Esotropia
  • At 3.5 months of age, he had significant failure to thrive, esotropia, hepatomegaly, hypotonia with gross motor delays, inverted nipples, micropenis with palpable testes, and otherwise normal external genitalia and abnormal subcutaneous adipose tissue[journals.sagepub.com]
Small Hand
  • Upon examination she was noted to have protruded forehead, thin hair, small hands and feet, and a saddle nose. No teething defects were found, and no blue sclera was observed ( Figure 1 ).[alliedacademies.org]
  • hands and feet, hypoplastic nails Tsezou et al ., 2000 [ 4 ] p12-p24 tandem - Brachycephaly - Psychomotor delay - High forehead, hypertelorism, epicanthus, deep-set eyes, cup-shaped ears, bulbous nasal tip, thin upper lip, downturned corners of the mouth[ncbi.nlm.nih.gov]
  • hands, and small feet). 33, 34 IGF-1 deficiency also causes underdevelopment and weakness of the muscular system, 43 and impairs and weakens hair 44 and nail growth.[mp.bmj.com]
Short Arm
  • Banding cytogenetics identified a derivative chromosome 9, with an abnormally elongated short arm.[ncbi.nlm.nih.gov]
Brachydactyly
  • However, she lacked hypo-plastic nails, brachydactyly and strabismus. Only our patient presented with umbilical hernia, which is an uncommon finding and rarely reported [18].[cyberleninka.org]
  • However, she lacked hypoplastic nails, brachydactyly and strabismus. Only our patient presented with umbilical hernia, which is an uncommon finding and rarely reported [ 18 ].[ncbi.nlm.nih.gov]
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]
Cup-Shaped Ears
  • , - Smallhands and feet, hypoplastic nails Tsezou et al., 2000 [4] Case 1 Case 2 p12-p24 tandem - Brachycephaly - Psychomotor delay - High forehead, hypertelorism, epicanthus, deep-set eyes, cup-shaped ears, bulbous nasal tip, thin upper lip, downturned[cyberleninka.org]
  • ., 1985 [ 17 ] p12-p24 tandem - Microcephaly, brachycephaly, large anterior fontanelle - Short stature - Hypertelorism, antimongoloid slant of eyes, cup-shaped ears, prominent nasal bridge, bulbous nose, downturned corners of the mouth, cleft lip and[ncbi.nlm.nih.gov]
Bulbous Nose
  • nose, short philtrum, down-turned corners of the mouth, short neck), digital abnormalities (fifth finger clinodacyly, brachydacyly, dysplastic nails), as well as skeletal malformations [10].[cyberleninka.org]
  • nose, short philtrum, downturned corners of the mouth, short neck), digital abnormalities (fifth finger clinodacyly, brachydacyly, dysplastic nails), as well as skeletal malformations [ 10 ].[ncbi.nlm.nih.gov]
High Forehead
  • ., 2000 [4] Case 1 Case 2 p12-p24 tandem - Brachycephaly - Psychomotor delay - High forehead, hypertelorism, epicanthus, deep-set eyes, cup-shaped ears, bulbous nasal tip, thin upper lip, downturned corners of the mouth, micro-retrognathia, short broad[cyberleninka.org]
  • ., 2000 [ 4 ] p12-p24 tandem - Brachycephaly - Psychomotor delay - High forehead, hypertelorism, epicanthus, deep-set eyes, cup-shaped ears, bulbous nasal tip, thin upper lip, downturned corners of the mouth, micro-retrognathia, short broad neck - Syndactyly[ncbi.nlm.nih.gov]
Large Anterior Fontanels
  • anterior fontanel - Short stature, psychomotor delay - Hypertelorism, deep-set eyes, down-set ears, bulbous nose tip, broad nasalbridge, short philtrum, downturned corners of the mouth, retrognathia, short neck - Fifth finger clinodactyly, left foot[cyberleninka.org]
  • Table 1 Clinical features in patients with de novo 9p12p24 duplication First author of reference Duplication 9p Congenital abnormalities Our patient p12-p24 inverted - Microcephaly, large anterior fontanel - Short stature, psychomotor delay - Hypertelorism[ncbi.nlm.nih.gov]
Downturned Corners of the Mouth
  • […] tip, thin upper lip, downturned corners of the mouth, micro-retrognathia, short broad neck - Syndactyly of the third and fourth fingers, syndactyly of the second to fourth toes, hypoplastic nails - Widely spaced nipples, left cerebellar hypoplasia Case[ncbi.nlm.nih.gov]
  • […] bulbous nasal tip, thin upper lip, downturned corners of the mouth, micro-retrognathia, short broad neck - Syndactyly of the third and fourth fingers, syndactyly of the second to fourth toes, hypoplastic nails - Widely spaced nipples, left cerebellar[cyberleninka.org]
Broad Nasal Bridge
  • nasal bridge, short philtrum, downturned corners of the mouth, retrognathia, short neck - Fifth finger clinodactyly, left foot equinus - Umbilical hernia. - Growth hormone deficiency Cuoco et al ., 1982 [ 16 ] p12-p24 tandem - Short stature, psychomotor[ncbi.nlm.nih.gov]
Short Attention Span
  • attention span Poor attention span Problem paying attention [ more ] 0000736 Showing of 45 Last updated: 11/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]
Hyperactivity
  • Showing of 45 Medical Terms Other Names Learn More: HPO ID 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[rarediseases.info.nih.gov]

Workup

  • Based on medical history, clinical manifestation, and initial workup, patient was assessed as diabetic ketosis, acromegaly, obese and dyslipidemia.[journalgateway.com]
  • Genetic analysis has become essential in the diagnostic workup of a patient with short stature. However, regarding the time consuming nature of molecular analysis, it is important to carefully select the patient for specific genetic evaluation.[karger.com]
Delayed Bone Age
  • bone age Motegi et al., 19 85 [17] p12-p24 tandem - Microcephaly, brachycephaly, large anterior fontanelle - Short stature - Hypertelorism, antimongoloid slant of eyes, cup-shaped ears, prominent nasal bridge, bulbous nose, downturned corners of the[cyberleninka.org]
  • bone age Motegi et al ., 1985 [ 17 ] p12-p24 tandem - Microcephaly, brachycephaly, large anterior fontanelle - Short stature - Hypertelorism, antimongoloid slant of eyes, cup-shaped ears, prominent nasal bridge, bulbous nose, downturned corners of the[ncbi.nlm.nih.gov]
  • Children with congenital and near complete GHD present with severe growth failure, delayed bone age, and very low serum levels of GH, IGF1 and IGFBP3 whereas milder growth failure and decrease in IGF1 and IGFBP3 could be seen in other causes of growth[ircmj.com]
  • bone age and severe osteopenia.[spandidos-publications.com]
Insulin-like Growth Factor I Decreased
  • Pete G, Hu Y, Walsh M, Sowers J, Dunbar JC: Insulin-like growth factor-I decreases mean blood pressure and selectively increases regional blood flow in normal rats. Exp Biol Med. 1996, 213 (2): 187-192. 153.[translational-medicine.biomedcentral.com]
Thrombocytosis
  • Laboratory evaluation showed elevated liver enzymes, low albumin ( Table 1 ) due to protein losing enteropathy, thrombocytosis with a platelet count greater than 1 million and leukocytosis with a white blood cell count of 40.2 10 3 /mm 3 (normal 6-17.5[journals.sagepub.com]

Treatment

  • Results: Mecasermin treatment resulted in a statistically significant increase in body height (1.45 1.06 SD; p 0.01) and height velocity in comparison with pre-treatment values.[journals.viamedica.pl]
  • Treatment was usually initiated before the minimum observation period necessary to calculate a reliable GV. IGF1 measurements were obtained at the start of treatment and near the end of the first year of rhGH therapy.[nature.com]
  • 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]
  • In order to fulfil the criteria for Increlex treatment in the UK, children must be aged 2-18 years and have severe primary IGF-1 deficiency (SPIGFD).[childgrowthfoundation.org]

Prognosis

  • They have poor prognosis due to the difficulty in treatment [ 4 ]. Left untreated, the height of patients with LS is a chronic problem.[alliedacademies.org]
  • Patients with metastatic RCC have an unusually poor prognosis and near-universal resistance to all current therapies.[nature.com]
  • Prognosis Long-term prognosis appears normal for GHRD, and postreceptor defects with the exception of STAT5b.[emedicine.medscape.com]
  • In almost all cases, long-term treatment and monitoring are essential. 1 With progress in disease management, the prognosis of the disease has improved, and in the majority of the cases adequate hormonal disease control is attained, resulting in life[dovepress.com]
  • In FFPE samples of human tumors, nuclear IGF-1R has been shown to associate with adverse prognosis in renal cancer [ 19 ], and with response to IGF-1R antibody in patients with sarcoma [ 21 ].[omicsonline.org]

Etiology

  • 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]
  • The etiology of acromegaly can be classified into three types.[journalgateway.com]
  • Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand. J Pediatr End Met 2017; 30: 1265-1270. Ogawa M, Kamijo T, Igarashi Y, et al.[alliedacademies.org]
  • The etiology may be classified as pituitary diseases, hypothalamic diseases, traumatic brain injury or stroke.[ircmj.com]
  • The studies in literature suggest that a GHD screening is necessary in children affected by NF1 and short stature [ 4, 5 ] GHD is an important complication in children with NF1, with the etiology in some patients remaining unclear.[aclr.com.es]

Epidemiology

  • 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]
  • Author Arlan L Rosenbloom, MD Adjunct Distinguished Service Professor Emeritus of Pediatrics, University of Florida College of Medicine; Fellow of the American Academy of Pediatrics; Fellow of the American College of Epidemiology Arlan L Rosenbloom, MD[emedicine.medscape.com]
  • Systemic complications of acromegaly: epidemiology, pathogenesis, and management. Endocr Rev 2004;25:102-52. 12. Ben-Shlomo A, Melmed S. Skin manifestations in acromegaly. Clin Dermatol 2006;24:256-9. 13.[journalgateway.com]
  • Abdominal ultrasonography is frequently used in epidemiological studies to detect NAFLD.[jmsr.eg.net]
  • 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.[rarediseases.info.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • […] provide different levels of hormone-replacement therapy or that assess the effects of variable doses of the GH antagonist will be necessary to discern the relative roles of IGF-1 and GH in mediating insulin sensitivity in both normal physiologic and pathophysiologic[jci.org]
  • The pathophysiological complexity of severe primary IGF-1 deficiency also involves the influence of other GH-dependent components in the IGF system that could be relevant to the effectiveness of circulating IGFs in the target organ.[touchendocrinology.com]
  • VIVO Pathophysiology Insulin-like growth factors or IGFs are peptide hormones secreted from many different cells.[vivo.colostate.edu]
  • Insulin-like growth factor (IGF-1) is considered the critical hormone in the pathophysiology of metabolic syndrome.[jmsr.eg.net]
  • Theos A, Korf BR (2006) Pathophysiology of neurofibromatosis type 1. Ann Intern Med 144: 842-849.[aclr.com.es]

Prevention

  • CDC podcast The Centers for Disease Control and Prevention's podcast, Gestational Diabetes and Women, tells expectant moms more about diabetes during pregnancy.[diabetes.org]
  • However, good control of the disease can prevent the onset or delay the progression of the various complications, including diabetic retinopathy (DR).[mjhid.org]
  • The authors thank the staff at Research Centre for Prevention and Health for carefully performed data collection. Received September 21, 2011. Accepted December 23, 2011. 2012 by the American Diabetes Association.[care.diabetesjournals.org]
  • Unlike GH, it is given twice daily and with meals to prevent mild associated hypoglycemia or low blood glucose levels. For more information or to network with other families of children with IGFD, contact MAGIC.[magicfoundation.org]
  • […] mechanism of action is mediated through IGF/IGFR binding, kinase activation and the initiation of intracellular signaling via the AKT signaling pathway. 1,2 The IGFBPs may modulate the action of IGFs in several different ways: Inhibitory Model – IGFBPs prevent[alpco.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!