Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT.

INTRODUCTION: Adrenal steroidogenesis is essential for human survival and depends on the availability of the precursor cholesterol. Male subjects with low plasma levels of high density lipoprotein (HDL) cholesterol are characterized by decreased adrenal function. Whether this is also the case in fem...

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Main Authors: Andrea E Bochem, Adriaan G Holleboom, Johannes A Romijn, Menno Hoekstra, Geesje M Dallinga, Mahdi M Motazacker, G Kees Hovingh, Jan A Kuivenhoven, Erik S G Stroes
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4026241?pdf=render
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author Andrea E Bochem
Adriaan G Holleboom
Johannes A Romijn
Menno Hoekstra
Geesje M Dallinga
Mahdi M Motazacker
G Kees Hovingh
Jan A Kuivenhoven
Erik S G Stroes
author_facet Andrea E Bochem
Adriaan G Holleboom
Johannes A Romijn
Menno Hoekstra
Geesje M Dallinga
Mahdi M Motazacker
G Kees Hovingh
Jan A Kuivenhoven
Erik S G Stroes
author_sort Andrea E Bochem
collection DOAJ
description INTRODUCTION: Adrenal steroidogenesis is essential for human survival and depends on the availability of the precursor cholesterol. Male subjects with low plasma levels of high density lipoprotein (HDL) cholesterol are characterized by decreased adrenal function. Whether this is also the case in female subjects with low plasma HDL-C levels is unresolved to date. FINDINGS: 15 female ATP binding cassette transporter AI (ABCAI) and 14 female lecithin-cholesterol acyltransferase (LCAT) were included in the study. HDL-C levels were 38% and 41% lower in ABCA1 and LCAT mutation carriers compared to controls, respectively. Urinary steroid excretion of 17-ketogenic steroids or 17-hydroxy corticosteroids did not differ between 15 female ABCA1 mutation carriers (p = 0.27 vs 0.30 respectively) and 30 matched normolipidemic controls or between 14 female LCAT mutation carriers and 28 matched normolipidemic controls (p = 0.10 and 0.14, respectively). Cosyntropin testing in an unselected subgroup of 8 ABCA1 mutation carriers and 3 LCAT mutation carriers did not reveal differences between carriers and controls. CONCLUSION: Adrenal function in females with molecularly defined low HDL-C levels is not different from controls. The discrepancy with the finding of impaired steroidogenesis in males with molecularly defined low HDL-C levels underscores the importance of gender specific analyses in cholesterol-related research.
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spelling doaj.art-79a6ff5fce2c4f0ea53b3c1dbb2b83982022-12-22T01:54:16ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0195e9096710.1371/journal.pone.0090967Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT.Andrea E BochemAdriaan G HolleboomJohannes A RomijnMenno HoekstraGeesje M DallingaMahdi M MotazackerG Kees HovinghJan A KuivenhovenErik S G StroesINTRODUCTION: Adrenal steroidogenesis is essential for human survival and depends on the availability of the precursor cholesterol. Male subjects with low plasma levels of high density lipoprotein (HDL) cholesterol are characterized by decreased adrenal function. Whether this is also the case in female subjects with low plasma HDL-C levels is unresolved to date. FINDINGS: 15 female ATP binding cassette transporter AI (ABCAI) and 14 female lecithin-cholesterol acyltransferase (LCAT) were included in the study. HDL-C levels were 38% and 41% lower in ABCA1 and LCAT mutation carriers compared to controls, respectively. Urinary steroid excretion of 17-ketogenic steroids or 17-hydroxy corticosteroids did not differ between 15 female ABCA1 mutation carriers (p = 0.27 vs 0.30 respectively) and 30 matched normolipidemic controls or between 14 female LCAT mutation carriers and 28 matched normolipidemic controls (p = 0.10 and 0.14, respectively). Cosyntropin testing in an unselected subgroup of 8 ABCA1 mutation carriers and 3 LCAT mutation carriers did not reveal differences between carriers and controls. CONCLUSION: Adrenal function in females with molecularly defined low HDL-C levels is not different from controls. The discrepancy with the finding of impaired steroidogenesis in males with molecularly defined low HDL-C levels underscores the importance of gender specific analyses in cholesterol-related research.http://europepmc.org/articles/PMC4026241?pdf=render
spellingShingle Andrea E Bochem
Adriaan G Holleboom
Johannes A Romijn
Menno Hoekstra
Geesje M Dallinga
Mahdi M Motazacker
G Kees Hovingh
Jan A Kuivenhoven
Erik S G Stroes
Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT.
PLoS ONE
title Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT.
title_full Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT.
title_fullStr Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT.
title_full_unstemmed Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT.
title_short Adrenal Function in females with low plasma HDL-C due to mutations in ABCA1 and LCAT.
title_sort adrenal function in females with low plasma hdl c due to mutations in abca1 and lcat
url http://europepmc.org/articles/PMC4026241?pdf=render
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