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Short Stature due to Endocrine Disorder

Short stature due to Disorder of the Endocrine System


Presentation

  • 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]
Developmental Delay
  • A case of partial IGF-I deficiency has also been described and was associated with pre- and postnatal growth retardation and microcephaly but the developmental delay was mild and hearing tests were normal.[orpha.net]
  • Other features may include delayed bone age, developmental delay, and dysmorphic features.[ncbi.nlm.nih.gov]
Weight Gain
  • We observed that some of the patients that referred to the Pediatric Endocrinology Clinic due to short stature or poor weight gain were carriers of [beta]-thalassemia.[thefreelibrary.com]
  • Two patients had dyspnea and weight gain; one of them was later found to have moderate aortic stenosis. Table 2.[annals.org]
Precocious Puberty
  • Somatomedin-C and growth in children with precocious puberty: a study of the effect of the level of growth hormone secretion. J Clin Endocrinol Metab. 1987 Dec; 65(6):1112-1117. 3680478 Underwood LE, D'Ercole AJ.[labcorp.com]
Accelerated Growth
  • Accelerated growth after recombinant human growth hormone treatment of children with chronic renal failure. J Pediatr 1989: 115: 365-71. ‎ Página 20 - Daughaday WH.[books.google.es]
Saddle Nose
  • nose Ski jump nose [ more ] 0011120 Congenital bilateral ptosis Congenital drooping of both upper eyelids 0007911 Hypoglycemia Low blood sugar 0001943 Low anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low posterior[rarediseases.info.nih.gov]
  • Additional characteristic features, such as microcephaly, protruding forehead, saddle nose, small chin, and high-pitched voice, may raise clinical suspicion [ 212, 217 ]. Serum IGF-I concentrations must be abnormally low for age and gender.[karger.com]
Failure to Thrive
  • […] to thrive Faltering weight Weight faltering [ more ] 0001508 Insulin resistance Body fails to respond to insulin 0000855 Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation[rarediseases.info.nih.gov]
Eruptions
  • […] of teeth Delayed eruption Delayed teeth eruption Delayed tooth eruption Eruption, delayed Late eruption of teeth Late tooth eruption [ more ] 0000684 Delayed skeletal maturation Delayed bone maturation Delayed skeletal development [ more ] 0002750 Hypogonadism[rarediseases.info.nih.gov]
Small Head
  • head circumference [ more ] 0000252 Prelingual sensorineural hearing impairment 0000399 Severe intrauterine growth retardation Severe prenatal growth deficiency 0008846 Severe postnatal growth retardation Marked growth retardation Severe growth delay[rarediseases.info.nih.gov]
Decrease in Height
  • […] body height Small stature [ more ] 0004322 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 30%-79% of people have these symptoms Clinodactyly of the 5th finger Permanent curving of the pinkie finger[rarediseases.info.nih.gov]
Broad Nasal Bridge
  • 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]
Delayed Speech and Language Development
  • speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language[rarediseases.info.nih.gov]
  • Delayed speech and language development MedGen UID: 105318 • Concept ID: C0454644 • Finding A degree of language development that is significantly below the norm for a child of a specified age.[ncbi.nlm.nih.gov]
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]

Workup

Dyslipidemia
  • Moreover, there is a huge unmet medical need for antidiabetics that can treat multiple chronic disorderscoexisting with diabetessuch as cardiovascular diseases, dyslipidemia, hypertension etc.[openpr.com]
  • Lanes R, Paoli M, Carrillo E, Villaroel O, Palacios A: Peripheral inflammatory and fibrinolytic markers in adolescents with growth hormone deficiency: relation to postprandial dyslipidemia. J Pediatr 2004;145:657-661.[karger.com]

Treatment

  • 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 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

  • 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 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]

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]
  • 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 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

  • 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]

Prevention

  • 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]

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