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Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

MedGen UID:
1665486
•Concept ID:
C4749397
•
Disease or Syndrome
Synonyms: Lundberg syndrome; polyneuropathy - intellectual deficit - acromicria - premature menopause; polyneuropathy intellectual disability acromicria premature menopause; polyneuropathy mental retardation acromicria premature menopause; Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome; polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
SNOMED CT: Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (770679002); Lundberg syndrome (770679002)
 
Monarch Initiative: MONDO:0017379
Orphanet: ORPHA2928

Definition

A rare genetic syndromic intellectual disability with characteristics of intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPolyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Professional guidelines

PubMed

Management of Menopausal Symptoms: A Review.
Crandall CJ, Mehta JM, Manson JE
JAMA 2023 Feb 7;329(5):405-420. doi: 10.1001/jama.2022.24140. PMID: 36749328
The 2022 hormone therapy position statement of The North American Menopause Society.
“The 2022 Hormone Therapy Position Statement of The North American Menopause Society” Advisory Panel
Menopause 2022 Jul 1;29(7):767-794. doi: 10.1097/GME.0000000000002028. PMID: 35797481
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article

Recent clinical studies

Etiology

The Importance of Nutrition in Menopause and Perimenopause-A Review.
Erdélyi A, Pálfi E, Tűű L, Nas K, Szűcs Z, Török M, Jakab A, Várbíró S
Nutrients 2023 Dec 21;16(1) doi: 10.3390/nu16010027. PMID: 38201856Free PMC Article
Obesity and menopause.
Opoku AA, Abushama M, Konje JC
Best Pract Res Clin Obstet Gynaecol 2023 Jun;88:102348. Epub 2023 May 6 doi: 10.1016/j.bpobgyn.2023.102348. PMID: 37244787
Management of Menopausal Symptoms: A Review.
Crandall CJ, Mehta JM, Manson JE
JAMA 2023 Feb 7;329(5):405-420. doi: 10.1001/jama.2022.24140. PMID: 36749328
Management of menopause: a view towards prevention.
Lobo RA, Gompel A
Lancet Diabetes Endocrinol 2022 Jun;10(6):457-470. Epub 2022 May 5 doi: 10.1016/S2213-8587(21)00269-2. PMID: 35526556
Hormone Therapy in Menopause: Concepts, Controversies, and Approach to Treatment.
Flores VA, Pal L, Manson JE
Endocr Rev 2021 Nov 16;42(6):720-752. doi: 10.1210/endrev/bnab011. PMID: 33858012

Diagnosis

Genitourinary Syndrome of Menopause.
Cox S, Nasseri R, Rubin RS, Santiago-Lastra Y
Med Clin North Am 2023 Mar;107(2):357-369. doi: 10.1016/j.mcna.2022.10.017. PMID: 36759102
Medical Treatment of Female Sexual Dysfunction.
Nappi RE, Tiranini L, Martini E, Bosoni D, Righi A, Cucinella L
Urol Clin North Am 2022 May;49(2):299-307. doi: 10.1016/j.ucl.2022.02.001. PMID: 35428435
Assessment of the climacteric syndrome: a narrative review.
Sourouni M, Zangger M, Honermann L, Foth D, Stute P
Arch Gynecol Obstet 2021 Oct;304(4):855-862. Epub 2021 Jul 6 doi: 10.1007/s00404-021-06139-y. PMID: 34231082
Menopause-Associated Lipid Metabolic Disorders and Foods Beneficial for Postmenopausal Women.
Ko SH, Kim HS
Nutrients 2020 Jan 13;12(1) doi: 10.3390/nu12010202. PMID: 31941004Free PMC Article
Hormone replacement therapy in young women with primary ovarian insufficiency and early menopause.
Sullivan SD, Sarrel PM, Nelson LM
Fertil Steril 2016 Dec;106(7):1588-1599. doi: 10.1016/j.fertnstert.2016.09.046. PMID: 27912889Free PMC Article

Therapy

Menopause.
Carter AE, Merriam S
Med Clin North Am 2023 Mar;107(2):199-212. Epub 2022 Dec 27 doi: 10.1016/j.mcna.2022.10.003. PMID: 36759091
Management of Menopausal Symptoms: A Review.
Crandall CJ, Mehta JM, Manson JE
JAMA 2023 Feb 7;329(5):405-420. doi: 10.1001/jama.2022.24140. PMID: 36749328
The 2022 hormone therapy position statement of The North American Menopause Society.
“The 2022 Hormone Therapy Position Statement of The North American Menopause Society” Advisory Panel
Menopause 2022 Jul 1;29(7):767-794. doi: 10.1097/GME.0000000000002028. PMID: 35797481
Hormone Therapy in Menopause: Concepts, Controversies, and Approach to Treatment.
Flores VA, Pal L, Manson JE
Endocr Rev 2021 Nov 16;42(6):720-752. doi: 10.1210/endrev/bnab011. PMID: 33858012
Sexual Health in Menopause.
Scavello I, Maseroli E, Di Stasi V, Vignozzi L
Medicina (Kaunas) 2019 Sep 2;55(9) doi: 10.3390/medicina55090559. PMID: 31480774Free PMC Article

Prognosis

Sleep in Women Across the Life Span.
Pengo MF, Won CH, Bourjeily G
Chest 2018 Jul;154(1):196-206. Epub 2018 Apr 19 doi: 10.1016/j.chest.2018.04.005. PMID: 29679598Free PMC Article
Preventing urinary tract infections after menopause without antibiotics.
Caretto M, Giannini A, Russo E, Simoncini T
Maturitas 2017 May;99:43-46. Epub 2017 Feb 7 doi: 10.1016/j.maturitas.2017.02.004. PMID: 28364867
Sex differences in cardiovascular risk factors and disease prevention.
Appelman Y, van Rijn BB, Ten Haaf ME, Boersma E, Peters SA
Atherosclerosis 2015 Jul;241(1):211-8. Epub 2015 Jan 28 doi: 10.1016/j.atherosclerosis.2015.01.027. PMID: 25670232
Stress-induced cardiomyopathy.
Boland TA, Lee VH, Bleck TP
Crit Care Med 2015 Mar;43(3):686-93. doi: 10.1097/CCM.0000000000000851. PMID: 25565459
The physiology and clinical utility of anti-Mullerian hormone in women.
Dewailly D, Andersen CY, Balen A, Broekmans F, Dilaver N, Fanchin R, Griesinger G, Kelsey TW, La Marca A, Lambalk C, Mason H, Nelson SM, Visser JA, Wallace WH, Anderson RA
Hum Reprod Update 2014 May-Jun;20(3):370-85. Epub 2014 Jan 14 doi: 10.1093/humupd/dmt062. PMID: 24430863

Clinical prediction guides

Management of Menopausal Symptoms: A Review.
Crandall CJ, Mehta JM, Manson JE
JAMA 2023 Feb 7;329(5):405-420. doi: 10.1001/jama.2022.24140. PMID: 36749328
Drugs for the treatment of postmenopausal symptoms: Hormonal and non-hormonal therapy.
Pan M, Zhou J, Pan X, Wang J, Qi Q, Wang L
Life Sci 2023 Jan 1;312:121255. Epub 2022 Dec 5 doi: 10.1016/j.lfs.2022.121255. PMID: 36470539
CO2-Laser therapy and Genitourinary Syndrome of Menopause: A Systematic Review and Meta-Analysis.
Filippini M, Porcari I, Ruffolo AF, Casiraghi A, Farinelli M, Uccella S, Franchi M, Candiani M, Salvatore S
J Sex Med 2022 Mar;19(3):452-470. Epub 2022 Jan 29 doi: 10.1016/j.jsxm.2021.12.010. PMID: 35101378
Assessment of the climacteric syndrome: a narrative review.
Sourouni M, Zangger M, Honermann L, Foth D, Stute P
Arch Gynecol Obstet 2021 Oct;304(4):855-862. Epub 2021 Jul 6 doi: 10.1007/s00404-021-06139-y. PMID: 34231082
High Physical Activity Level May Reduce Menopausal Symptoms.
Dąbrowska-Galas M, Dąbrowska J, Ptaszkowski K, Plinta R
Medicina (Kaunas) 2019 Aug 11;55(8) doi: 10.3390/medicina55080466. PMID: 31405242Free PMC Article

Recent systematic reviews

Systematic Review and Meta-analysis: Changes of Gut Microbiota before and after Menopause.
Yang M, Wen S, Zhang J, Peng J, Shen X, Xu L
Dis Markers 2022;2022:3767373. Epub 2022 Jul 25 doi: 10.1155/2022/3767373. PMID: 35923245Free PMC Article
Life Modifications and PCOS: Old Story But New Tales.
Gu Y, Zhou G, Zhou F, Wu Q, Ma C, Zhang Y, Ding J, Hua K
Front Endocrinol (Lausanne) 2022;13:808898. Epub 2022 Apr 13 doi: 10.3389/fendo.2022.808898. PMID: 35498415Free PMC Article
2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.
Grundy SM, Stone NJ, Bailey AL, Beam C, Birtcher KK, Blumenthal RS, Braun LT, de Ferranti S, Faiella-Tommasino J, Forman DE, Goldberg R, Heidenreich PA, Hlatky MA, Jones DW, Lloyd-Jones D, Lopez-Pajares N, Ndumele CE, Orringer CE, Peralta CA, Saseen JJ, Smith SC Jr, Sperling L, Virani SS, Yeboah J
Circulation 2019 Jun 18;139(25):e1082-e1143. Epub 2018 Nov 10 doi: 10.1161/CIR.0000000000000625. PMID: 30586774Free PMC Article
EULAR recommendations for women's health and the management of family planning, assisted reproduction, pregnancy and menopause in patients with systemic lupus erythematosus and/or antiphospholipid syndrome.
Andreoli L, Bertsias GK, Agmon-Levin N, Brown S, Cervera R, Costedoat-Chalumeau N, Doria A, Fischer-Betz R, Forger F, Moraes-Fontes MF, Khamashta M, King J, Lojacono A, Marchiori F, Meroni PL, Mosca M, Motta M, Ostensen M, Pamfil C, Raio L, Schneider M, Svenungsson E, Tektonidou M, Yavuz S, Boumpas D, Tincani A
Ann Rheum Dis 2017 Mar;76(3):476-485. Epub 2016 Jul 25 doi: 10.1136/annrheumdis-2016-209770. PMID: 27457513Free PMC Article
Estrogen Deficiency and the Origin of Obesity during Menopause.
Lizcano F, Guzmán G
Biomed Res Int 2014;2014:757461. Epub 2014 Mar 6 doi: 10.1155/2014/757461. PMID: 24734243Free PMC Article

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