Endocrine Abstracts

Introduction: Premature ovarian insufficiency (POI) is a rare cause of primary amenorrhea (1,2). We report a 16-year-old girl with normal secondary sexual characteristics, but no menses due to an autoimmune POI and associated with autoimmune gastritis. This is the first report of such constellation in an adolescent – both conditions separately already being rare in the pediatric population.Case presentation: A 16-year-old girl was referred to our de...

Introduction: Micronodular adrenocortical disease is a very rare cause of Cushing syndrome in children. This adrenocorticotropic hormone (ACTH)-independent form of Cushing syndrome is mostly a part of the Carney Complex, which is caused by mutations in the PRKAR1A gene (1). A young female with endogenous ACTH independent hypercorticism without the classical gene mutations in the pigmented and the non-pigmented form of micronodular adrenal disease is presented.<p c...

J Larry Jameson & Lewis Landsberg Dean, Vice-President for Medical Affairs, Northwestern University, Evanston, Illinois, USA; Feinberg School of Medicine, Northwestern University, Evanston, Illinois, USA AbstractJ Larry Jameson, MD, PhD, received his medical degree with honors and a doctoral degree in biochemistry from the University of North Carolina in 1981. He performed his clinical training in internal medicin...

To determine the role of testosterone on liver fat deposition using the testicular feminised mouse (Tfm) model. The Tfm does not have a functional androgen receptor (AR) and low circulating levels of testosterone due to associated 17αhydroxylase deficiency.Liver tissue was obtained after 24 weeks of feeding with a cholesterol enriched diet from the following groups: (1) XY placebo-treated (littermate control), (2) Tfm placebo, (3) XY castrate placeb...

Background: 1,25-dihydroxy vitamin D mediated hypercalcemia resulting from an inflammatory reaction caused by a foreign body such as a textiloma has never been described.Clinical case: A 61 year-old man with a medical history of Alport syndrome and in need of chronic dialysis after transplant kidney resection because of relapsing severe urinary tract infections, presented with recurrent and progressive hypercalcemia two years after parathyroidectomy (C a...

Background: Dopamine agonist (DA) withdrawal is common in the management of microprolactinoma. Guidelines in 19971 and 20062 suggest that DA should be withdrawn after normoprolactinaemia for 3 years.Aims: To assess DA withdrawal and adherence to guidelines.Methods: We retrospectively examined casenotes from 1997 to 2008. Patients were included with clinical and biochemical evidence of hyperprolactinaemia, and ...

TESTOSTERONE-REPLACEMENT STIMULATED HYPERPROLACTINAEMIAR Sodi, R Fikri, M Diver, L Ranganath & J Vora*.Departments of Clinical Chemistry and Endocrinology*Royal Liverpool and Broadgreen University Hospital,Liverpool, UK. L7 8XP.Around half of all men with macroprolactinomas have hypogonadism and may require exogenous testosterone replacement. However, testoste...

Background: Replacing physiological cortisol levels is important for the long-term health of patients with adrenal insufficiency and congenital adrenal hyperplasia (CAH). Modified-release formulations of hydrocortisone are one strategy being used to replace the cortisol circadian rhythm in adult patients but there is no data in children. Physiologically based pharmacokinetic (PBPK) modelling is a valuable tool for paediatric drug development1; however, there are no ...

The oestrogen receptor (ER) is a ligand-inducible transcription factor that controls expression of a number of genes in a wide variety of tissues. Binding of the natural hormone, oestradiol, triggers dimerisation and nuclear location of the receptor and assembly of a functional transcriptional complex through recruitment of various coactivators.In this talk, I will discuss how knowledge of the structure of the receptor has had a major impact on our under...

Neurohypophyseal diabetes insipidus (DI) is said to be caused by familial forms in about 5% of cases1. Hereditary transmission is autosomal dominant in most families and is caused by a mutation in the arginine vasopressin (AVP) gene on chromosome 20p13, which encodes for a large precursor hormone.A 19-years old otherwise healthy patient seeked endocrine care for an inadequately treated DI. He reported about an undoubtful disease history with a...