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Cited by 20Ovarian function and disordersGenetic and Kidney Cyst DiseasesDiabetes, Cardiovascular Risks, and Lipoproteins

Polycystic ovary syndrome in familial partial lipodystrophy type 2 [Fpld2]: Basic and clinical aspects

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Gambineri, Alessandra, Zanotti, Laura·2018·Nucleus
DOI 10.1080/19491034.2018.1509659PMC PMC7000141
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Abstract

Polycystic ovary syndrome (PCOS) is a common disorder with a high phenotypic variability. Frequently, it is associated with a mild to moderate insulin resistance (IR) caused by an interaction between polygenic diathesis and the environment. However, PCOS may be a complication of an underlying syndrome of severe IR such as insulin receptor autoantibodies, mutations in the insulin receptor or in the signalling pathway downstream from the insulin receptor or, most frequently, a defect in function or in the development of the subcutaneous adipose tissue. Such conditions are clinically characterized by lipodystrophy. Lipodystrophy in some cases is produced by a single-gene defect. In our experience, PCOS secondary to a missense mutation in the LMNA gene, known as familial partial lipodystrophy type 2 (FPLD2), is the most frequent form of PCOS secondary to severe IR due to genetically determined lipodystrophy. These forms should be identified as they benefit from tailored therapies.

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Crossref · 10.1080/19491034.2018.1509659

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  • Patients with congenital generalized lipodystrophy have a generalized deficiency of fat from birth, usually have severe insulin resistance and develop diabetes at puberty.

    “Patients with congenital generalized lipodystrophy have a generalized deficiency of fat from birth, usually have severe IR and develop diabetes at puberty.”

    From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [188]

    The “Severe insulin resistance and lipodystrophy” section identifies congenital generalized lipodystrophy as a form of lipodystrophy associated with severe insulin resistance. It does not say that generalized fat deficiency is present from birth or that diabetes typically develops at puberty; its discussion of puberty concerns congenital partial lipodystrophy instead. No page number is available in our copy. (LLM, conf=0.82)

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  • As a consequence of genetically limited ability for SAT lipid storage, lipids can only be stored ectopically in non-adipocytes resulting in major health consequences including insulin resistance, fatty liver, diabetes and PCOS.

    “As a consequence of genetically limited ability for SAT lipid storage, lipids can only be stored ectopically in non-adipocytes resulting in major health consequences including IR, fatty liver, diabetes and PCOS [188].”

    From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [188]

    The “Severe insulin resistance and lipodystrophy” section links genetic defects in subcutaneous fat development or function to severe insulin resistance, while “PCOS secondary to lipodystrophy” links lipodystrophy with PCOS. The section on clinical characteristics also lists severe NAFLD. But the paper does not say that lipids can *only* be stored ectopically in non-adipocytes or establish that mechanism as the cause of all four listed outcomes; it describes increased visceral fat in FPLD2, and the retrieved passages do not establish the diabetes component. (LLM, conf=0.85)

    Experimental — accuracy not yet measured

  • If the extent of insulin resistance and ectopic fat deposition is excessive, the resulting hormonal changes may be sufficient to cause oligomenorrhoea and subfertility as occurs with secondary familial partial lipodystrophy type 2.

    “If the extent of IR and ectopic fat deposition is excessive, the resulting hormonal changes may be sufficient to cause oligomenorrhoea and subfertility as occurs with secondary familial partial lipodystrophy type 2 [188,189].”

    From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [188]

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Research works printed but not linked: 1

  1. [5]Evidence-based Methodology Workshop on Polycystic Ovary Syndrome [cited 2012 12 3–5]. Available from: http://prevention.nih.gov/workshops/2012/pcos/resources.aspx

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Authors
Gambineri, A., & Zanotti, L.
Affiliations
IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT)
Corresponding author
Gambineri, Alessandra
ORCID
Venue
Nucleus
Publisher
Informa UK Limited
Published
2018-10-03
Volume
9
Issue
1
Pages
392-397
ISSN
  • 1949-1034 (ISSN-L)
  • 1949-1042
DOI
10.1080/19491034.2018.1509659
PMC
PMC7000141
OpenAlex
W2888494474
Cited by
19
References
22
Citations by year
2026: 1 · 2025: 5 · 2024: 2 · 2023: 4 · 2022: 4 · 2021: 1 · 2020: 2
FWCI
0.80
Type
journal article
Language
en
Open access
Licence
Locations
  • Nucleus (publishedVersion, cc-by)
  • Europe PMC (PubMed Central) (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) (submittedVersion)
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Diabetes, Cardiovascular Risks, and Lipoproteins
Keywords
polycystic ovary syndrome, familial partial lipodystrophy type 2, LMNA gene, missense mutations, insulin resistance, lipodystrophy, insulin receptor antibodies, insulin receptor mutations, subcutaneous adipose tissue
MeSH terms
Female, Humans, Polycystic Ovary Syndrome, Lamin Type A, Lipodystrophy, Familial Partial

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