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

Herein we report 2 subjects with Acromegaly who presented with DKA as the initial manifestation. [oatext.com]

Case Report A 10-Year-old Saudi girl presented to our endocrinology clinic with no history of medial illness. [alliedacademies.org]

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]

The child presented a worsening of anorexia and several crises of hypotonia. MRI brain scan showed a diffuse cerebral glioma. [aclr.com.es]

• Short Stature

  Approach to short stature. Indian J Pediatr 2015; 82: 462-470. Hasegawa K, Tanaka H. Children with short‐limbed short stature in pediatric endocrinological services in Japan. Pediatr Intern 2014; 56; 809-812. [alliedacademies.org]

  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]

  Non-hormonal causes include malabsorption, malnutrition, liver disease, kidney disease, chronic illness, or familial short stature. Genetic syndromes can also present with short stature. [magicfoundation.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]

• Poor Growth

  A diagnosis of Primary Insulin-like Growth Factor Deficiency (IGFD) is made by identifying: Growth failure or short stature Normal growth hormone production Low levels of IGF-1 No other underlying disease or causes of poor growth e.g. chronic diseases [childgrowthfoundation.org]

  This disorder is known as Laron dwarfism and is characterized by abnormal GH receptors, resulting in decreased GH-stimulated production of IGF-1 and poor growth. [britannica.com]

  Growth hormone deficiency is one of the endocrine (hormonal) disorders that can cause poor growth. In order for a child to grow properly, an important gland called the pituitary must release enough growth hormone called somatropin. [saizenus.com]

  Of these 12, nine were noncompliant or lost to follow-up, one had poor growth, and two were parent-subject decisions. Six subjects completed the study by attaining near-adult height. Thus, 58 subjects remain in the study. [academic.oup.com]

• Short Stature in Children

  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]

  Height follows a normal bell distribution curve, and children shorter that the 2.3%ile ( There are many reasons that can lead to a child having short stature. [magicfoundation.org]

  Children with major defects in GH action have severe IGF-I deficiency and short stature that should be remedied by IGF-I replacement ( 2 ). [academic.oup.com]

• Single Transverse Palmar Crease

  transverse palmar crease 0000954 Truncal obesity 0001956 Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Autosomal recessive inheritance [rarediseases.info.nih.gov]

• Liver Dysfunction

  Because of the complexity of the effect of deficient glycosylation on the GH-IGF system, 4, 5 the mechanism of IGF-1 deficiency in these patients could be multifactorial stemming from varying degrees of GH resistance, liver dysfunction, 14 and inadequate [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]

  - Growth hormone deficiency Cuoco et al ., 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 [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]

• 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

  Widely spaced nipples, left cerebellar hypoplasia p12-p24 inverted - Brachycephaly - Psychomotor delay - Frontalbossing, hypertelorism, epicanthus, deep-set eyes, strabismus, cup-shaped ears, bulbous nasal tip, downturned corners of the mouth, short [cyberleninka.org]

  Widely spaced nipples, left cerebellar hypoplasia Case 1 Case 2 p12-p24 inverted - Brachycephaly - Psychomotor delay - Frontal bossing, hypertelorism, epicanthus, deep-set eyes, strabismus, cup-shaped ears, bulbous nasal tip, downturned corners of [ncbi.nlm.nih.gov]

• Short Arm

  Banding cytogenetics identified a derivative chromosome 9, with an abnormally elongated short arm. [ncbi.nlm.nih.gov]

• 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]

  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]

• 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]

• 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]

• 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

  […] deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ] 0007018 Bilateral sensorineural hearing impairment 0008619 Congenital sensorineural hearing impairment 0008527 Failure to thrive Faltering weight [rarediseases.info.nih.gov]

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]

  hypoplastic nails, knee and elbow valgus, delayed 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 [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]

• 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]

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]

RhIGF-1 is also being researched for use in anorexia treatment, in addition to growth disturbances, and for treatment of severe insulin resistance. [dopinglinkki.fi]

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]

Improving lifestyle, by decreasing body weight and controlling blood sugar using insulin sensitizers like pioglitazone, GLP-1 inhibitors like liraglutide, and SLGT2 inhibitors, and improving lipid profile are associated with good prognosis of NAFLD. [jmsr.eg.net]

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]

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]

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]

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]

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]

The GH/IGF-1 axis in obesity: pathophysiology and therapeutic considerations. Nat Rev Endocrinol. 2013 ; 9 :346–356. doi: 10.1038/nrendo.2013.64. Crossref Medline Google Scholar 11. [ahajournals.org]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Insulin-like growth factor 1 (IGF1) is a 70-amino acid polypeptide (molecular weight 7.6 kDa). [mayocliniclabs.com]

Home of the Office of Disease Prevention and Health Promotion - health. [mayura.kukbitsl.website]

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]

[…] 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]

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]

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]