hrp0092s7.3 | Adrenal Insufficiency: New Mechanisms, New Therapies | ESPE2019

Widening the Horizon - Clinical Relevance of Steroid Hormone Pathways

Wudy Stefan A.

While it had been widely believed at the end of last century that most problems in steroid metabolism had already been solved, and not much more significant discoveries were to be expected anymore, recent exciting observations and rediscoveries have initiated a renaissance in steroid metabolism research. These revolutionary findings have often been initially made in animals and have also significantly been driven by new steroid analytical techniques based on mass spectrometry....

hrp0094wg4.2 | ESPE Working Group on Disorders of Sex Development (DSD) Symposium | ESPE2021

Advances in the Measurement of Steroid Hormones

Wudy Stefan A. ,

While steroid hormones as universal signals of intercellular communication arose very early in the evolution of life, it was only recently that their isolation and structural elucidation has been achieved. Steroid hormones are small, structurally closely related molecules sharing the typical 4-cyclic sterane basic structure. However, there is a big diversity of functionally different steroid hormones and their metabolism is complex. Thus, their analysis is highly challenging. ...

hrp0084p3-962 | GH & IGF | ESPE2015

Effectiveness of rhGH Treatment in a Boy with Nephrogenic Diabetes Insipidus

Kamrath Clemens , Wudy Stefan

Background: The majority of children with primary nephrogenic diabetes insipidus grow below the third centile.Objective and hypotheses: Effect of rhGH treatment on growth in a patient with primary nephrogenic diabetes insipidus.Results: The patient is an 11-years and 2 month old Caucasian boy of unrelated healthy parents. At the age of 7 years and 9 month he was admitted to our hospital for evaluation of polydipsia and polyuria. Hi...

hrp0092p1-2 | Adrenals and HPA Axis | ESPE2019

Software-assisted Analysis of the Urinary Steroid Metabolom in Treated Children with Classic Congenital Adrenal Hyperplasia

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

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...

hrp0089rfc1.5 | Adrenals &amp; HPA Axis | ESPE2018

Quantitative Urinary GC–MS Based Steroid Analysis for Treatment Monitoring of Adolescents and Young Adults with Autoimmune Primary Adrenal Insufficiency

Kamrath Clemens , Hartmann Michaela F , Wudy Stefan A

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...

hrp0084p2-431 | GH &amp; IGF | ESPE2015

Effectiveness of rhIGF1 Treatment in a Girl with Leprechaunism

Kamrath Clemens , Boettcher Claudia , Wudy Stefan

Background: Infants with severe insulin resistance syndrome show failure to thrive.Objective and hypotheses: Effect of rhIGF1 treatment on growth in a patient with severe insulin resistance syndrome.Method: Case report.Results: The patient is a 4-years-old Caucasian girl of unrelated healthy parents. She was born after a 40 weeks gestation as a small for gestational age infant with a birth weight of 1970 g. A...

hrp0095p1-404 | Adrenals and HPA Axis | ESPE2022

Steroid metabotyping in treated infants with classical congenital adrenal hyperplasia by chromatography-mass spectrometry analysis

Kamrath Clemens , Friedrich Clemens , Hartmann Michaela , Wudy Stefan

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...

hrp0095p2-82 | Diabetes and Insulin | ESPE2022

An unusual combination: Wolfram Syndrome Type 1 with type-1-Diabetes mellitus

Karatsiolis Platonas , Kamrath Clemens , Rakicioglu Hande , A. Wudy Stefan

Wolfram Syndrome Type 1 also known as DIDMOAD syndrome is an autosomal recessive genetic disorder, characterized by major criteria diabetes mellitus and optic atrophy under the age of 16, as well as minor criteria diabetes insipidous, optic atrophy and diabetes mellitus over the age of 16 years deafness, neurological signs, renal tract structural or function abnormalities, loss of function mutation in WFS1 or CISD2 gene and or family with Wolfram syndrome. Other features could...

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...

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...