Steroid Profiling in the Amniotic Fluid: Reference Range for 12 Steroids and Interest in 21-Hydroxylase Deficiency

Author:

Pourquet Anne123ORCID,Teoli Jordan13,Bouty Aurore23,Renault Lucie13ORCID,Roucher Florence13,Mallet Delphine13,Rigaud Chantal1,Dijoud Frédérique43,Mouriquand Pierre23,Mure Pierre-Yves23,Sanlaville Damien53,Ecochard René63,Plotton Ingrid13ORCID

Affiliation:

1. Department of Clinical Biochemistry, University Hospital of Lyon , 69002 Lyon , France

2. Department of Pediatric Surgery, University Hospital of Lyon , 69002 Lyon , France

3. Faculty of Medicine of Lyon-Sud, Claude Bernard Lyon 1 University , 69100 Villeurbanne , France

4. Department of Pathology, University Hospital of Lyon , 69002 Lyon , France

5. Department of Medical Genetics, University Hospital of Lyon , 69002 Lyon , France

6. Department of Biostatistics, University Hospital of Lyon , 69002 Lyon , France

Abstract

Abstract Context Determination of steroid levels in the amniotic fluid gives some insight on fetal adrenal and gonadal functions. Objective Our objectives were to establish reference ranges of 12 steroid levels throughout pregnancy and to compare them with steroid levels from pregnancies with fetuses presenting with 21-hydroxylase deficiency (21OHD). Methods Liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) was applied to 145 “control” amniotic fluid samples from gynecology activity (12 + 6 to 32 + 4 gestational weeks, GW). The following steroids were analyzed according to gestational age and compared to 23 amniotic fluid samples from fetuses with classic 21OHD confirmed by molecular studies: delta-4-androstenedione (D4), dehydroepiandrosterone (DHEA), 17-hydroxyprogesterone (17OHP), 11-deoxycortisol (11OH), 21-deoxycortisol (21OH), corticosterone, deoxycorticosterone (DOC), testosterone, pregnenolone, 17-hydroxypregnenolone (17Pregn), cortisol, and cortisone. Chromosomal sex was determined by karyotype and gestational age by biometric measurements. Results Analysis of control samples showed a statistically significant difference for D4 and testosterone levels according to fetal sex. Cortisol, corticosterone, and DOC had lower concentrations before 20 GW than after 20 GW, whereas 17Pregn and pregnenolone had higher concentrations before 20 GW. This allowed us to establish age- and sex-dependent reference values. We observed higher 21OH, 17Pregn, D4, and testosterone levels in females with 21OHD than female controls. The ratios 17OHP/17Pregn, D4/DHEA, and 11OH/17OHP appeared discriminant for the diagnosis of 21OHD. Conclusion Our study provides information on fetal steroidogenesis and suggests reference values for 12 steroids during pregnancy. This allows a prenatal diagnosis of 21OHD within 24 hours and might be useful in the diagnosis of other variations of sex development.

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference42 articles.

1. Fetoplacental hormones and human gestation;Diczfalusy;Basic Life Sci,1974

2. Evolution of steroids during pregnancy: maternal, placental and fetal synthesis;Morel;Ann Endocrinol,2016

3. Steroid profiling in pregnancy: a focus on the human fetus;Hill;J Steroid Biochem Mol Biol,2014

4. Characterization of human adrenal steroidogenesis during fetal development;Melau;J Clin Endocrinol Metab,2019

5. Development and function of the human fetal adrenal cortex: a key component in the feto-placental unit;Ishimoto;Endocr Rev,2011

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3