hrp0082wg3.2 | DSD | ESPE2014

The Potential Role of the Alternative ‘Backdoor’ Pathway for Androgen Synthesis and Virilisation in CAH

Kamrath Clemens

Data from urinary steroid metabolomics approach gave evidence that the ‘backdoor’ pathway might act as a source of androgen synthesis in CAH. Although the prenatal role of this pathway in CAH is unknown, the backdoor pathway could be involved in fetal androgen metabolism and could contribute to genital virilisation. The traditional concept of androgen synthesis in CAH postulates that androstenedione acts as a precursor of testosterone and dihydrotestosterone, and tha...

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...

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...

hrp0092p2-66 | Diabetes and Insulin | ESPE2019

New Mutation of the PDX-1 Gene Causes MODY Type 4 Diabetes in a 17 year old girl with Good Response to Oral Antidiabetics

Giatropoulou Sofia , Kamrath Clemens , Krull Simone , Wudy Stefan

Background: Correct classification of diabetes mellitus in children and adolescents is essential for appropriate treatment.Case report: A 17 year old female adolescent was referred to our clinic due to hyperglycemia. She complained of dizziness and nausea. Her blood pressure was 160 /100 mmHg; she had hyperglycemia ( 208 mg/dl), a glycosuria and a ketonuria without ketoacidosis. Some members of the family were on insulin...

hrp0092p3-4 | Adrenals and HPA Axis | ESPE2019

A Female Infant with Severe Salt-Wasting due to Aldosterone Synthase Deficiency, Initially Mimicking Adrenal Insufficiency

Krull Simone , Kamrath Clemens , Schulze Egbert , Giatropoulou Sofia , Wudy Stefan

Background: Correct diagnosis of the etiology of adrenal deficiencies is essential for appropriate treatment.Case report: At the 12th day of life, the girl had suffered an episode of severe salt wasting with marked hyponatremia (109 mmol/l) and hyperkalemia (6.9 mmol/l). Under the assumption of adrenal insufficiency therapy with hydrocortisone and fludrocortisone as well as salt had been started. Unfortunately...

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...

hrp0082p1-d2-6 | Adrenals &amp; 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...