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Clinical, endocrine and metabolic studies in the kindred of familial partial lipodystrophy--a syndrome of insulin resistance.
J Assoc Physicians India. 2002 Jun; 50:773-6.JA

Abstract

OBJECTIVE

To study clinical, endocrine and metabolic profiles in the kindred of subjects with familial partial lipodystrophy (FPLD, Dunnigan type).

MATERIAL AND METHODS

Twenty two relatives (10 males, 12 females), from an extended family with FPLD, were assessed for the phenotypic features, impaired glucose tolerance (IGT)/diabetes mellitus (DM), dyslipidemia and the presence of insulin resistance. Plasma glucose and serum lipids were measured using glucose oxidase and standard colorimetric methods. Serum insulin was estimated by radioimmunoassay.

RESULTS

The age was 12 to 67 years, two being adolescents. Two of the 20 adults were overweight and eight were underweight; BMI (adults) was 15.5 to 28.5. Features of FPLD were evident among eight out of 12 women. This typical phenotype was not obvious in all 10 male members. Varying degree of Hirsuitism was observed in four of 12 women, acanthosis nigricans in 11 out of 22 members and skin tags were present in only eight of 22; hypertension in six members and diabetes in four. Eleven members had either impaired glucose tolerance (IGT) (n=7), or DM (n=4). Ten of 20 members showed hyperinsulinemic response on oral glucose tolerance test (OGTT). Dyslipidemia was present in 13 family members.

CONCLUSION

The majority (2/3rd) of female members showed typical phenotypic features of FPLD, with a clustering of cardiovascular risk factors and insulin resistance syndrome. More than half the men without phenotypic features of FPLD had either IGT/DM, dyslipidemia, hypertension or cardiovascular disease.

Authors+Show Affiliations

Bhavan's SPARC, JVPD Sheme, Mumbai.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12240840

Citation

Vaidya, R A., et al. "Clinical, Endocrine and Metabolic Studies in the Kindred of Familial Partial Lipodystrophy--a Syndrome of Insulin Resistance." The Journal of the Association of Physicians of India, vol. 50, 2002, pp. 773-6.
Vaidya RA, Vaidya AD, Talwalkar SC, et al. Clinical, endocrine and metabolic studies in the kindred of familial partial lipodystrophy--a syndrome of insulin resistance. J Assoc Physicians India. 2002;50:773-6.
Vaidya, R. A., Vaidya, A. D., Talwalkar, S. C., Mehtalia, S. D., Shringi, M. S., Pandey, S. N., Shah, S. J., Godse, C., Joshi, J. V., Sheth, J., & Kamdar, V. V. (2002). Clinical, endocrine and metabolic studies in the kindred of familial partial lipodystrophy--a syndrome of insulin resistance. The Journal of the Association of Physicians of India, 50, 773-6.
Vaidya RA, et al. Clinical, Endocrine and Metabolic Studies in the Kindred of Familial Partial Lipodystrophy--a Syndrome of Insulin Resistance. J Assoc Physicians India. 2002;50:773-6. PubMed PMID: 12240840.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical, endocrine and metabolic studies in the kindred of familial partial lipodystrophy--a syndrome of insulin resistance. AU - Vaidya,R A, AU - Vaidya,A D B, AU - Talwalkar,S C, AU - Mehtalia,S D, AU - Shringi,M S, AU - Pandey,S N, AU - Shah,S J, AU - Godse,C, AU - Joshi,J V, AU - Sheth,J, AU - Kamdar,V V, PY - 2002/9/21/pubmed PY - 2002/10/17/medline PY - 2002/9/21/entrez SP - 773 EP - 6 JF - The Journal of the Association of Physicians of India JO - J Assoc Physicians India VL - 50 N2 - OBJECTIVE: To study clinical, endocrine and metabolic profiles in the kindred of subjects with familial partial lipodystrophy (FPLD, Dunnigan type). MATERIAL AND METHODS: Twenty two relatives (10 males, 12 females), from an extended family with FPLD, were assessed for the phenotypic features, impaired glucose tolerance (IGT)/diabetes mellitus (DM), dyslipidemia and the presence of insulin resistance. Plasma glucose and serum lipids were measured using glucose oxidase and standard colorimetric methods. Serum insulin was estimated by radioimmunoassay. RESULTS: The age was 12 to 67 years, two being adolescents. Two of the 20 adults were overweight and eight were underweight; BMI (adults) was 15.5 to 28.5. Features of FPLD were evident among eight out of 12 women. This typical phenotype was not obvious in all 10 male members. Varying degree of Hirsuitism was observed in four of 12 women, acanthosis nigricans in 11 out of 22 members and skin tags were present in only eight of 22; hypertension in six members and diabetes in four. Eleven members had either impaired glucose tolerance (IGT) (n=7), or DM (n=4). Ten of 20 members showed hyperinsulinemic response on oral glucose tolerance test (OGTT). Dyslipidemia was present in 13 family members. CONCLUSION: The majority (2/3rd) of female members showed typical phenotypic features of FPLD, with a clustering of cardiovascular risk factors and insulin resistance syndrome. More than half the men without phenotypic features of FPLD had either IGT/DM, dyslipidemia, hypertension or cardiovascular disease. SN - 0004-5772 UR - https://www.unboundmedicine.com/medline/citation/12240840/Clinical_endocrine_and_metabolic_studies_in_the_kindred_of_familial_partial_lipodystrophy__a_syndrome_of_insulin_resistance_ L2 - https://www.diseaseinfosearch.org/result/4261 DB - PRIME DP - Unbound Medicine ER -