hrp0092p1-234 | Growth and Syndromes (to include Turner Syndrome) (1) | ESPE2019

Identification of Syndromal Macrosomia: Macrocephaly, but Neither Height Nor Weight Data are Useful in the Detection of Pediatric PTEN Hamartoma Tumor Syndrome (PHTS)

Plamper Michaela , Gohlke Bettina , Schreiner Felix , Wölfle Joachim

Background: PTEN Hamartoma Tumor Syndrome (PHTS) encompasses different syndromic disorders which are associated with autosomal-dominant mutations of the tumor suppressor gene PTEN. Patients are at high risk to develop benign and malignant tumors. Macrocephaly is a diagnostic feature, but there is a paucity of data on prevalence, degree und development during growth. Charts for length, weight and head circumference for this rare disorder do no...

hrp0092p1-301 | Adrenals and HPA Axis (2) | ESPE2019

Height in Infants Aged 1 Year with Classic Congenital Adrenal Hyperplasia is Related to their Urinary Steroid Metabolome

Kamrath Clemens , Friedrich Clemens , Hartmann Michaela F. , Wudy Stefan A.

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...

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),...

hrp0086p1-p23 | Adrenal P1 | ESPE2016

The Urinary Steroidome of Children with Classic 21-Hydroxylase Deficiency Treated with Hydrocortisone

Kamrath Clemens , Wettstaed Lisa , Boettcher Claudia , Hartmann Michaela , Wudy Stefan

Background: Monitoring treatment of children with classic congenital adrenal hyperplasia (CAH) is difficult and biochemical targets are not well defined.Objective and hypotheses: To analyse the urinary steroid metabolome of children with classic 21-hydroxylase deficiency (21-OHD) during treatment with hydrocortisone and fludrocortisone.Method: We retrospectively analysed 553 daily urinary steroid hormone metabolite profiles determi...

hrp0086p1-p199 | Diabetes P1 | ESPE2016

Anthropometry and Glucose Homeostasis in a Patient with Donohue Syndrome (Homozygous Insulin Receptor Mutation): Effect of Continuous s.c. rIGF-I Therapy

Plamper Michaela , Schreiner Felix , Gohlke Bettina , Wolfle Joachim

Background: Donohue syndrome (DS) is caused by autosomal-recessive loss of function mutations of the insulin receptor gene. DS is associated with diabetes mellitus unresponsive to conventional insulin therapy due to severe insulin resistance. Patients exhibit IUGR and postnatal failure to thrive. They develop a characteristic facies, hypertrichosis and acanthosis nigricans. Most patients die within the first two years of life because of respiratory infections. To date, no caus...

hrp0082p1-d2-6 | Adrenals & HP Axis | ESPE2014

Descriptive Analyses of Turner Syndrome

Kamrath Clemens , Hartmann Michaela , Boettcher Claudia , Wudy Stefan

Background: One major issue of newborn screening programs for 21-hydroxylase deficiency (21OHD) is the high rate of false-positive results, especially in preterm neonates. Urinary steroid analysis using gas chromatography–mass spectrometry (GC–MS) is used as a confirmatory diagnostic tool.Objective and Hypotheses: The objective of this study was to analyze diagnostic metabolite ratios in neonates and infants with and without 21OHD using GC&#150...

hrp0097p2-149 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Growth arrest due to multiple hormonal deficiencies caused by hemorrhagic apoplex of a Rathke cleft cyst - a rare difefrential diagnosis of acquired childhood pituitary insufficiency

Hofmann Michaela , Theresa Schmook Maria , Azizi Amedeo , Hartmann Gabriele

Among the acquired causes of growth hormone deficiency (GHD) in childhood, the most common reasons are benign or semimalign pituitary tumors - first and foremost craniopharyngiomas or dysgerminomas. We report on a very rare differential diagnosis in a 11-year-old, prepubertal boy with a growth arrest (1.1 cm in 2 years, height - 2.38 SDS). 2 growth hormone stimulation tests confirmed GHD (2,7 and 2,3 ng/ml after priming). There was mild central hypothyroidism (fT4 1.04 ng/dl, ...

hrp0098fc8.2 | Adrenals and HPA Axis 2 | ESPE2024

Detection and differentiation of adrenocortical tumors (ACTs) in children by gas chromatography-mass spectrometry (GC-MS) based urinary steroid metabotyping

F Hartmann Michaela , Pons-Kühnemann Joern , Kunstreich Marina , Antje Redlich , Vorwerk Peter , Kuhlen Michaela , A Wudy Stefan

Introduction: ACTs comprise adenomas (ACAs) and carcinomas (ACCs), the latter having a poor prognosis. In children, ACTs are functional and thus symptomatic. We investigated whether GC-MS urinary steroid metabotyping can detect tumors and differentiate between adenomas and carcinomas.Method: We investigated 46 patients (median 6.9; range 0.7-17 yrs; 36 females) with ACTs from the GPOH-MET Study (Registry of the German So...

hrp0086rfc4.5 | Pathophysiology of Obesity | ESPE2016

Steroid Metabolomic Signature of Liver Disease in Childhood Obesity

Gawlik Aneta , Shmoish Michael , Hartmann Michaela F. , Malecka-Tendera Ewa , Wudy Stefan A. , Hochberg Ze'ev

Background: Analysis of steroids by gas chromatography-mass spectrometry (GC-MS) defines a subject’s steroidal fingerprint. Here, we compare the steroidal fingerprints of obese children with or without liver disease to identify the ‘steroid metabolomic signature’ of childhood non-alcoholic fatty liver disease.Methods: Urinary samples of 85 children (43 girls) age 8.5–18.0 with obesity (BMI >97%) were quantified for 31 steroid meta...

hrp0084fc12.3 | Obesity - Clinical | ESPE2015

Re-Classification of Childhood Obesity by Steroid Metabolomic Disease Signature

Gawlik Aneta , Shmoish Michael , Hartmann Michaela , Malecka-Tendera Ewa , Wudy Stefan , Hochberg Ze'ev

Context: Analysis of steroids by gas chromatography – mass spectrometry (GC-MS) defines a subject’s ‘steroidal fingerprint’. Here, we clustered steroidal fingerprints to classify childhood obesity by ’steroid metabolomic signatures’.Methods: Urinary samples of 87 children (44 F) age 8.5–18.0 with obesity (BMI >97%) underwent solid phase extraction, enzymatic hydrolysis and derivatization. 31 steroids metabolites wer...