hrp0092p1-4 | Adrenals and HPA Axis | ESPE2019

The Steroidal Milieu in Amniotic Fluid of Mid-Gestation: A Targeted GC-MS Metabolomics Study

Wang Rong , Hartmann Micheala , Tiosano Dov , Wudy Stefan A.

Intact steroid hormone biosynthesis is essential for growth and development of the human fetus and embryo. In the present study, gas chromatography-mass spectrometry was employed to characterize the steroidal milieu in amniotic fluid (n=65; male: female = 35: 30) of mid-gestation (median: 18.8th week, range: 16.0th – 24.6th week) by a comprehensive targeted steroid hormone metabolomics approach. The levels of 52 steroids i...

hrp0089p1-p011 | Adrenals and HPA Axis P1 | ESPE2018

Characterizing the Steroidome in Ammniotic Fluid of Mid-gestation by LC-MS/MS

Wang Rong , Tiosano Dov , Hartmann Michaela F , Wudy Stefan A

The amniotic fluid (AF) milieu is complex and essential to fetal well-being. Here we present a new LC-MS/MS method for the targeted metabolomics analysis of 20 unconjugated and conjugated steroids in 65 AF samples during mid-gestation. Sample preparation included protein precipitation, centrifugation, solid phase extraction and derivatization. We measured progesterone (Prog), 17α-hydroxyprogesterone (17OHProg), testosterone (T), estrone (E1), estradiol (E2), estriol (E3),...

hrp0094p2-176 | Fat, metabolism and obesity | ESPE2021

Exploring Urinary Bile Acids as Potential Markers of Metabolism: Reference Values in Children by Targeted LC-MS/MS

Schauermann Marcel , Wang Rong , Hartmann Michaela F. , Remer Thomas , Hua Yifan , Shmoish Michael , Bereket Abdullah , Wasniewska Malgorzata , Hochberg Ze’ev , Gawlik Aneta , Wudy Stefan A. ,

Bile acids (BA) are C24 steroids synthesized from cholesterol in liver. Originally, they were mainly considered to function as emulsifiers supporting resorption of lipophilic food compounds and excretion of metabolic products. Recently, their additional biological and endocrine functions in the regulation of metabolism have aroused interest of researchers. In contrast to BA in blood, it is surprising that hardly any data exist on BA in the most accessible human biof...

hrp0095p1-137 | Multisystem Endocrine Disorders | ESPE2022

First description of a child with a biallellic loss-of-function variant in the sulfate transporter SLC13A1

JJ Finken Martijn , Bokenkamp Arend , EC Smith Desiree , MC Wamelink Mirjam , EW Jansen Erwin , A Struijs Eduard , Waisfisz Quinten , Verkleij Marieke , F Hartmann Michaela , Wang Rong , A Wudy Stefan , Paganini Chiara , Rossi Antonio , M van de Kamp Jiddeke

Introduction: Sulfation is required for the metabolism of numerous compounds, including proteoglycans, steroid hormones, neurotransmitters, toxic chemicals, and drugs like acetaminophen. The sulfate transporter SLC13A1 is responsible for the intestinal absorption and the renal reabsorption of inorganic sulfate, but loss-of-function mutations in this gene have never been described in man. Here, we describe a male with a biallelic loss-of-function variant, i.e.,...