ESPE Abstracts

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...

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...

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...

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...

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...