Lipodystrophy

An unusual diagnosis in a case of oligomenorrhea and hirsutism

Jennifer Keller, Lalitha Subramanyam, Vinaya Simha, Robert Gustofson, Debra Minjarez, Abhimanyu Garg

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

BACKGROUND: Familial partial lipodystrophy, Dunnigan variety, is a rare autosomal dominant disorder caused by missense mutations in LMNA gene. Individuals are predisposed to insulin resistance and its complications, including features of polycystic ovary syndrome. CASE: A 27-year-old Hispanic woman presented with oligomenorrhea and hirsutism. Examination revealed cushingoid facies, significant hirsutism, acanthosis nigricans, and a lean body habitus. Metabolic testing identified diabetes mellitus, dyslipidemia, and steatohepatitis. A diagnosis of familial partial lipodystrophy, Dunnigan variety, was confirmed by the detection of a heterozygous p.Arg482Trp (c.1444C>T) missense mutation in the lamin A/C (LMNA) gene. Subsequently, seven female relatives were diagnosed with familial partial lipodystrophy, Dunnigan variety, four of whom had menstrual irregularities. CONCLUSION: Familial partial lipodystrophy, Dunnigan variety, can present with features similar to polycystic ovary syndrome. Diagnosis is critical because the metabolic complications of the disorder have significant morbidity.

Original languageEnglish (US)
Pages (from-to)427-431
Number of pages5
JournalObstetrics and Gynecology
Volume114
Issue number2 PART 2 SUPPL.
DOIs
StatePublished - Aug 2009

Fingerprint

Familial Partial Lipodystrophy
Oligomenorrhea
Lipodystrophy
Hirsutism
Lamin Type A
Polycystic Ovary Syndrome
Missense Mutation
Acanthosis Nigricans
Fatty Liver
Dyslipidemias
Hispanic Americans
Genes
Insulin Resistance
Diabetes Mellitus
Morbidity

ASJC Scopus subject areas

  • Obstetrics and Gynecology

Cite this

Keller, J., Subramanyam, L., Simha, V., Gustofson, R., Minjarez, D., & Garg, A. (2009). Lipodystrophy: An unusual diagnosis in a case of oligomenorrhea and hirsutism. Obstetrics and Gynecology, 114(2 PART 2 SUPPL.), 427-431. https://doi.org/10.1097/AOG.0b013e31819feaa9

Lipodystrophy : An unusual diagnosis in a case of oligomenorrhea and hirsutism. / Keller, Jennifer; Subramanyam, Lalitha; Simha, Vinaya; Gustofson, Robert; Minjarez, Debra; Garg, Abhimanyu.

In: Obstetrics and Gynecology, Vol. 114, No. 2 PART 2 SUPPL., 08.2009, p. 427-431.

Research output: Contribution to journalArticle

Keller, J, Subramanyam, L, Simha, V, Gustofson, R, Minjarez, D & Garg, A 2009, 'Lipodystrophy: An unusual diagnosis in a case of oligomenorrhea and hirsutism', Obstetrics and Gynecology, vol. 114, no. 2 PART 2 SUPPL., pp. 427-431. https://doi.org/10.1097/AOG.0b013e31819feaa9
Keller, Jennifer ; Subramanyam, Lalitha ; Simha, Vinaya ; Gustofson, Robert ; Minjarez, Debra ; Garg, Abhimanyu. / Lipodystrophy : An unusual diagnosis in a case of oligomenorrhea and hirsutism. In: Obstetrics and Gynecology. 2009 ; Vol. 114, No. 2 PART 2 SUPPL. pp. 427-431.
@article{5722e742f5b14426bf537fee32b8caad,
title = "Lipodystrophy: An unusual diagnosis in a case of oligomenorrhea and hirsutism",
abstract = "BACKGROUND: Familial partial lipodystrophy, Dunnigan variety, is a rare autosomal dominant disorder caused by missense mutations in LMNA gene. Individuals are predisposed to insulin resistance and its complications, including features of polycystic ovary syndrome. CASE: A 27-year-old Hispanic woman presented with oligomenorrhea and hirsutism. Examination revealed cushingoid facies, significant hirsutism, acanthosis nigricans, and a lean body habitus. Metabolic testing identified diabetes mellitus, dyslipidemia, and steatohepatitis. A diagnosis of familial partial lipodystrophy, Dunnigan variety, was confirmed by the detection of a heterozygous p.Arg482Trp (c.1444C>T) missense mutation in the lamin A/C (LMNA) gene. Subsequently, seven female relatives were diagnosed with familial partial lipodystrophy, Dunnigan variety, four of whom had menstrual irregularities. CONCLUSION: Familial partial lipodystrophy, Dunnigan variety, can present with features similar to polycystic ovary syndrome. Diagnosis is critical because the metabolic complications of the disorder have significant morbidity.",
author = "Jennifer Keller and Lalitha Subramanyam and Vinaya Simha and Robert Gustofson and Debra Minjarez and Abhimanyu Garg",
year = "2009",
month = "8",
doi = "10.1097/AOG.0b013e31819feaa9",
language = "English (US)",
volume = "114",
pages = "427--431",
journal = "Obstetrics and Gynecology",
issn = "0029-7844",
publisher = "Lippincott Williams and Wilkins",
number = "2 PART 2 SUPPL.",

}

TY - JOUR

T1 - Lipodystrophy

T2 - An unusual diagnosis in a case of oligomenorrhea and hirsutism

AU - Keller, Jennifer

AU - Subramanyam, Lalitha

AU - Simha, Vinaya

AU - Gustofson, Robert

AU - Minjarez, Debra

AU - Garg, Abhimanyu

PY - 2009/8

Y1 - 2009/8

N2 - BACKGROUND: Familial partial lipodystrophy, Dunnigan variety, is a rare autosomal dominant disorder caused by missense mutations in LMNA gene. Individuals are predisposed to insulin resistance and its complications, including features of polycystic ovary syndrome. CASE: A 27-year-old Hispanic woman presented with oligomenorrhea and hirsutism. Examination revealed cushingoid facies, significant hirsutism, acanthosis nigricans, and a lean body habitus. Metabolic testing identified diabetes mellitus, dyslipidemia, and steatohepatitis. A diagnosis of familial partial lipodystrophy, Dunnigan variety, was confirmed by the detection of a heterozygous p.Arg482Trp (c.1444C>T) missense mutation in the lamin A/C (LMNA) gene. Subsequently, seven female relatives were diagnosed with familial partial lipodystrophy, Dunnigan variety, four of whom had menstrual irregularities. CONCLUSION: Familial partial lipodystrophy, Dunnigan variety, can present with features similar to polycystic ovary syndrome. Diagnosis is critical because the metabolic complications of the disorder have significant morbidity.

AB - BACKGROUND: Familial partial lipodystrophy, Dunnigan variety, is a rare autosomal dominant disorder caused by missense mutations in LMNA gene. Individuals are predisposed to insulin resistance and its complications, including features of polycystic ovary syndrome. CASE: A 27-year-old Hispanic woman presented with oligomenorrhea and hirsutism. Examination revealed cushingoid facies, significant hirsutism, acanthosis nigricans, and a lean body habitus. Metabolic testing identified diabetes mellitus, dyslipidemia, and steatohepatitis. A diagnosis of familial partial lipodystrophy, Dunnigan variety, was confirmed by the detection of a heterozygous p.Arg482Trp (c.1444C>T) missense mutation in the lamin A/C (LMNA) gene. Subsequently, seven female relatives were diagnosed with familial partial lipodystrophy, Dunnigan variety, four of whom had menstrual irregularities. CONCLUSION: Familial partial lipodystrophy, Dunnigan variety, can present with features similar to polycystic ovary syndrome. Diagnosis is critical because the metabolic complications of the disorder have significant morbidity.

UR - http://www.scopus.com/inward/record.url?scp=68949144605&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=68949144605&partnerID=8YFLogxK

U2 - 10.1097/AOG.0b013e31819feaa9

DO - 10.1097/AOG.0b013e31819feaa9

M3 - Article

VL - 114

SP - 427

EP - 431

JO - Obstetrics and Gynecology

JF - Obstetrics and Gynecology

SN - 0029-7844

IS - 2 PART 2 SUPPL.

ER -