ESPE Abstracts

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....

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. ...

Though presenting the analytical techniques with a more longstanding tradition, mass spectrometry based methods had been until lately superseded by the faster immunoassay techniqes in the field of endocrinology. However, the introduction of fast commercial direct immunoassays has led to a dramatic loss in specificity, especially in the field of pediatric endocrinology. For a long time the enormous analytical power of chromatography and mass spectrometry based techniques regard...

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...

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: 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...

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...

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...

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...