ESPE Abstracts

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...

Background: We recently described that 27.8% of patients treated with recombinant human GH (r-hGH) using the easypod had an adherence (AD) rate of <85.7% i.e. missing one r-GH dose per week. Overall AD of all investigated patients during the first 2 years of treatment was generally high (mean 90.2%).Objective: To evaluate the importance of high AD rate of r-GH administration over the first 2 years of r-hGH treatment on growth velocity and increase of...

Background: Mean adherence (AD) rates in patients treated with recombinant human GH (r-hGH) using either the easypod™ or a non-electronic (NEL) device have recently been reported.Objective and hypotheses: To evaluate AD rates of r-hGH treatment under everyday conditions and to calculate the amount of r-hGH administered using the easypod™ or a NEL device.Method: Retrospective, observational, open-label, non-controlled stud...

Background: Treatment of children with classic congenital adrenal hyperplasia (CAH) is a difficult balance between hypercortisolism and hyperandrogenism. Biochemical monitoring of treatment is not well defined.Objective: Retrospective software-assisted analysis of urinary steroid metabolome analysis obtained by gas chromatography-mass spectrometry (GC-MS) for treatment monitoring of children with CAH.<p class="abstex...

Background: Autoimmune primary adrenal insufficiency (PAI) is a rare and life-threatening disease. Standard replacement therapy consists of multiple daily doses of hydrocortisone combined with fludrocortisone. A recent Endocrine Society guideline argued against hormonal monitoring of glucocorticoid replacement. However, about 50% of adolescents and young adults (AYAs) with chronic diseases are non-adherent to their prescribed treatment regimens. Pervasive nonadherence places p...

Background: Low birth-weight and unfavourable intrauterine conditions are associated with a subsequent impact on the endocrine system. Many studies reported hyperandrogenaemia and precocious adrenarche in children born small for gestational age (SGA). However, little information is available on steroid profiles in these subjects.Objective and Hypotheses: We followed genetically identical twins with intra-twin birth-weigh...

Preliminary results:Objective: Although low birthweight (bw) and unfavourable intrauterine conditions have been associated with metabolic sequelae in later life, little is known about their impact on steroid metabolism. We studied genetically identical twins with intra-twin bw-differences from birth to adolescence to analyse the long-term impact of bw on steroid metabolism.Methods:...

Objective: Cluster analysis of urinary steroid metabolome analysis obtained by gas chromatography-mass spectrometry (GC-MS) for treatment monitoring of infants with classic salt-wasting CAH. Methods: We evaluated metabolome analysis of spot urine samples of 60 young children ≤4 years of age (29 females) with classic CAH due to 21-hydroxylase deficiency treated with hydrocortisone and fludrocortisone. Subjects were divide...

Background: Controlling therapy of infants, especially from neonates onwards, with classic congenital adrenal hyperplasia (CAH) is challenging due to the lack of reference values.Methods: We retrospectively analyzed 158 spot urinary steroid hormone metabolite profiles determined by gas chromatography–mass spectrometry (GC-MS) of 60 infants aged 0–4.2 years with classic 21-hydroxylase deficiency (21-OHD) on hydr...

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),...