Endocrine Abstracts

Androstenedione and 17OHP are often used as measures of cortisol replacement in congenital adrenal hyperplasia (CAH) rather than cortisol itself. Very little is known of the dose response relationships between cortisol and A4 and 17OHP.We have studied the relationship between 24 h serum cortisol, 17OHP and A4 in 33 (18M) children with CAH due to P450c21 deficiency. 24 h serum cortisol and 17OHP profiles were constructed using 20 min sampling intervals an...

Background: Generalized glucocorticoid resistance is a rare condition characterized by partial, end-organ insensitivity to glucocorticoids, compensatory elevations in ACTH and cortisol secretion, and increased production of adrenal steroids with androgenic and/or mineralocorticoid activity. We identified a new case of glucocorticoid resistance caused by a novel, heterozygous point mutation at nucleotide position 2209 (T → C) of the hGRα gene, resulting in phenylalan...

Introduction: Hypothalamic dysfunction (HD) during childhood can occur due to (treatment of) a suprasellar brain tumor. HD may not only result in pituitary dysfunction, but also in severe hyperphagia, decreased energy expenditure, diabetes insipidus with adipsia, disturbance of circadian rhythm, temperature dysregulation and behavioral problems. Currently there is no effective treatment for HD while HD has major impact on quality of life. To provide optimal care and to design ...

Aim: To describe the clinical course of an adolescent girl with gigantism.Background and methodsIn young persons with open epiphyses, overproduction of GH results in gigantism, with consequent longitudinal growth acceleration1. Pituitary gigantism is extremely rare, and its cause in the majority of patients is a pituitary adenoma1. Here, we present a 12, 5 years-old girl investigated for tall stature [183.5&#1...

Introduction: Glucocorticoid replacement therapy uses twice or thrice daily regimens of hydrocortisone (HC) with variable distribution of the dose over the day. Deconvolution analysis determines the mass of hormone that needs to be secreted to attain a particular serum concentration. We have used this methodology to determine the amount and distribution of cortisol over a 24 h period.Methods: Seventy-nine adults (41M) aged 60–74 years and 30 childre...