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Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome

MedGen UID:
1801791
•Concept ID:
C5681180
•
Disease or Syndrome
Synonyms: Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome; intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
SNOMED CT: Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome (1197592001)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018573
Orphanet: ORPHA436144

Definition

A rare genetic endocrine disease with characteristics of intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIntrauterine growth restriction-short stature-early adult-onset diabetes syndrome

Professional guidelines

PubMed

IUGR: Genetic influences, metabolic problems, environmental associations/triggers, current and future management.
Darendeliler F
Best Pract Res Clin Endocrinol Metab 2019 Jun;33(3):101260. Epub 2019 Jan 22 doi: 10.1016/j.beem.2019.01.001. PMID: 30709755

Recent clinical studies

Etiology

Highlighting the trajectory from intrauterine growth restriction to future obesity.
Gantenbein KV, Kanaka-Gantenbein C
Front Endocrinol (Lausanne) 2022;13:1041718. Epub 2022 Nov 11 doi: 10.3389/fendo.2022.1041718. PMID: 36440208Free PMC Article
Pregnancy and Systemic Lupus Erythematosus.
Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Attention Deficit/Hyperactivity, the Metabolic Syndrome, and Type 2 Diabetes.
Landau Z, Pinhas-Hamiel O
Curr Diab Rep 2019 Jun 27;19(8):46. doi: 10.1007/s11892-019-1174-x. PMID: 31250219
Epigenetics in neonatal diseases.
Xu XF, Du LZ
Chin Med J (Engl) 2010 Oct;123(20):2948-54. PMID: 21034612
Fetal origins of adult diabetes.
Kanaka-Gantenbein C
Ann N Y Acad Sci 2010 Sep;1205:99-105. doi: 10.1111/j.1749-6632.2010.05683.x. PMID: 20840260

Diagnosis

Maternal Nutrient Restriction and Skeletal Muscle Development: Consequences for Postnatal Health.
Sandoval C, Wu G, Smith SB, Dunlap KA, Satterfield MC
Adv Exp Med Biol 2020;1265:153-165. doi: 10.1007/978-3-030-45328-2_9. PMID: 32761575
Insulin resistance depends on GH counter-regulation in two syndromes of short stature.
Guevara-Aguirre J, Guevara A, Bahamonde M
Growth Horm IGF Res 2018 Feb;38:44-48. Epub 2017 Dec 20 doi: 10.1016/j.ghir.2017.12.012. PMID: 29306561
Early-life exposure to substance abuse and risk of type 2 diabetes in adulthood.
Vaiserman AM
Curr Diab Rep 2015 Aug;15(8):48. doi: 10.1007/s11892-015-0624-3. PMID: 26077016
Premature adrenarche, polycystic ovary syndrome and intrauterine growth retardation: does a relationship exist?
van Weissenbruch MM
Curr Opin Endocrinol Diabetes Obes 2007 Feb;14(1):35-40. doi: 10.1097/MED.0b013e328013da7d. PMID: 17940417
Small for gestational age: short stature and beyond.
Saenger P, Czernichow P, Hughes I, Reiter EO
Endocr Rev 2007 Apr;28(2):219-51. Epub 2007 Feb 23 doi: 10.1210/er.2006-0039. PMID: 17322454

Therapy

The effects of assisted reproduction technologies on metabolic health and disease†.
Heber MF, Ptak GE
Biol Reprod 2021 Apr 1;104(4):734-744. doi: 10.1093/biolre/ioaa224. PMID: 33330924Free PMC Article
Cardiovascular events following pregnancy complicated by pre-eclampsia with emphasis on comparison between early- and late-onset forms: systematic review and meta-analysis.
Dall'Asta A, D'Antonio F, Saccone G, Buca D, Mastantuoni E, Liberati M, Flacco ME, Frusca T, Ghi T
Ultrasound Obstet Gynecol 2021 May;57(5):698-709. doi: 10.1002/uog.22107. PMID: 32484256
Pregnancy and Systemic Lupus Erythematosus.
Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Adolescent polycystic ovary syndrome.
Connor EL
Adolesc Med State Art Rev 2012 Apr;23(1):164-77, xii. PMID: 22764561
Small for gestational age: short stature and beyond.
Saenger P, Czernichow P, Hughes I, Reiter EO
Endocr Rev 2007 Apr;28(2):219-51. Epub 2007 Feb 23 doi: 10.1210/er.2006-0039. PMID: 17322454

Prognosis

The effects of assisted reproduction technologies on metabolic health and disease†.
Heber MF, Ptak GE
Biol Reprod 2021 Apr 1;104(4):734-744. doi: 10.1093/biolre/ioaa224. PMID: 33330924Free PMC Article
Pregnancy and Systemic Lupus Erythematosus.
Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Russel-Silver syndrome: A historical note and comment on an older adult.
Searle C, Johnson D
Am J Med Genet A 2016 Feb;170A(2):466-470. Epub 2015 Nov 3 doi: 10.1002/ajmg.a.37442. PMID: 26525433
Short-term and long-term sequelae in intrauterine growth retardation (IUGR).
Longo S, Bollani L, Decembrino L, Di Comite A, Angelini M, Stronati M
J Matern Fetal Neonatal Med 2013 Feb;26(3):222-5. Epub 2012 Oct 3 doi: 10.3109/14767058.2012.715006. PMID: 23030765
Interactions of perturbations in intrauterine growth and growth during childhood on the risk of adult-onset disease.
Yajnik C
Proc Nutr Soc 2000 May;59(2):257-65. doi: 10.1017/s0029665100000288. PMID: 10946794

Clinical prediction guides

The effects of assisted reproduction technologies on metabolic health and disease†.
Heber MF, Ptak GE
Biol Reprod 2021 Apr 1;104(4):734-744. doi: 10.1093/biolre/ioaa224. PMID: 33330924Free PMC Article
Pregnancy and Systemic Lupus Erythematosus.
Petri M
Best Pract Res Clin Obstet Gynaecol 2020 Apr;64:24-30. Epub 2019 Oct 8 doi: 10.1016/j.bpobgyn.2019.09.002. PMID: 31677989
Insulin resistance depends on GH counter-regulation in two syndromes of short stature.
Guevara-Aguirre J, Guevara A, Bahamonde M
Growth Horm IGF Res 2018 Feb;38:44-48. Epub 2017 Dec 20 doi: 10.1016/j.ghir.2017.12.012. PMID: 29306561
Short-term and long-term sequelae in intrauterine growth retardation (IUGR).
Longo S, Bollani L, Decembrino L, Di Comite A, Angelini M, Stronati M
J Matern Fetal Neonatal Med 2013 Feb;26(3):222-5. Epub 2012 Oct 3 doi: 10.3109/14767058.2012.715006. PMID: 23030765
Premature adrenarche, polycystic ovary syndrome and intrauterine growth retardation: does a relationship exist?
van Weissenbruch MM
Curr Opin Endocrinol Diabetes Obes 2007 Feb;14(1):35-40. doi: 10.1097/MED.0b013e328013da7d. PMID: 17940417

Recent systematic reviews

Cardiovascular events following pregnancy complicated by pre-eclampsia with emphasis on comparison between early- and late-onset forms: systematic review and meta-analysis.
Dall'Asta A, D'Antonio F, Saccone G, Buca D, Mastantuoni E, Liberati M, Flacco ME, Frusca T, Ghi T
Ultrasound Obstet Gynecol 2021 May;57(5):698-709. doi: 10.1002/uog.22107. PMID: 32484256
Efficacy and safety of metformin during pregnancy in women with gestational diabetes mellitus or polycystic ovary syndrome: a systematic review.
Lautatzis ME, Goulis DG, Vrontakis M
Metabolism 2013 Nov;62(11):1522-34. Epub 2013 Jul 23 doi: 10.1016/j.metabol.2013.06.006. PMID: 23886298

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