Endocrine Abstracts

Introduction: Hypothyroidism is one of the major causes of preventable mental retardation. Neonatal screening aids in the prompt diagnosis of newborns with congenital hypothyroidism. There are other clinical conditions that can alter thyroid function during the newborn period, including exposure of high iodine concentrations.Case presentation: One day old female born at 37 3/7 weeks of gestational age by C-section with imperforated anus and congenital he...

IVF and ICSI are fully established methods of assisted reproduction which can be used for patients awaiting cytotoxic therapy:Following the data of the German, Swiss and Austrian network Fertiprotekt (www.fertiprotekt.eu), 164 of 1388 counselled patients have chosen ovarian stimulation and cryopreservation of oocytes as a fertility preservation technique in 2007–2009. Among those patients 2417 oocytes were co...

Introduction: Measurements of midnight salivary cortisol, 24-hour urinary free cortisol (UFC) and 1mg overnight Dexamethasone (DXM) suppression test (short DST) represent classical first line screening tests to diagnose Cushing syndrome. In women using combined Estrogen–Progestogen contraception, cortisol response during short DST is often decreased, leading to false positive (FP = morning plasma cortisol post-DST > 50 nmol/l).Purpose: The main ...

Background and aim: Insulin tolerance test (ITT) is the gold standard for the diagnosis of cortisol and growth hormone deficiencies in adults. Once hypoglycaemia (<40 mg/dl) is achieved, some medical centers give sugar to their patients (food, drink or glucose infusion), others do not and let the blood glucose rise spontaneously. Although critical hypoglycaemia results in discomfort and potential complications for the patients there is so far no recommendation on the subje...

Background: Thyroid autoimmunity (TAI) is the most important cause of hypothyroidism in the general population, and its prevalence is higher in women of subfertile couples.1 Women pregnant after an assisted reproductive technology (ART) with TAI carry a higher risk of a first trimester miscarriage rate compared to women without TAI. Several reasons could be underlying such as thyroid dysfunction, older age, an immune imbalance, and the presence of thyrotropin recept...

The 21-hydroxylase (21OH) gene, CYP21A2, encodes the 21OH steroidogenic enzyme which is the primary autoantigen in autoimmune Addison’s disease (AAD). It is located on chromosome 6p21, in a copy number repeat termed RCCX, adjacent to the 21OH pseudogene (CYP21A1P). CYP21A1P is highly homologous to CYP21A2 but contains an 8 bp deletion in exon 3 (707-714delGAGACTAC) which results in a frameshift. The predicted protein product is...

Background: Autoimmune polyendocrine syndrome type 1 (APS1) is a disorder caused by mutations of the autoimmune regulator (AIRE) gene, that controls central tolerance. Tetrahydrobiopterin (BH4)-dependent hydroxylases, consisting of tryptophan hydroxylase (TPH1 and TPH2), tyrosine hydroxylase (TH) and phenylalanine hydroxylase (PAH) are commonly targeted autoantigens. Nevertheless, detailed characterization of their epitopes and independent roles of TPH isoforms has ...

Introduction: Obesity is associated with hypothalamic inflammation (HI) in animal models. While MRI studies in humans also found an increased intensity in the MBH in obese subjects, it remains unclear (1) if HI causes neuronal death and (2) if HI reverses during weight loss.Patients and methods: n=50 obese subjects and n=50 age- and sex-matched controls where examined. MRI scans including spectroscopy were performed. Also, detailed nutr...

Autoimmune Addison’s disease (AAD) results from the immune mediated selective destruction of adrenal steroid hormone-secreting cells. Autoantibodies (Abs) against 21-hydroxylase (21OH) are diagnostic present in 85–90% newly diagnosed patients. Its genetic susceptibility is conferred by human leukocyte antigen (HLA) DQ2 and DQ8. In many patients autoimmunity extends forming the autoimmune polyglandular syndrome type 2 (APS-2). The aim of this study was to test, whethe...

Due to the rarity of autoimmune Addison’s disease (AAD), it has proved difficult to gather large case cohorts for genetic studies. Linkage analysis offers a powerful means of identifying genetic susceptibility loci but has never been applied to AAD because of the scarcity of families containing ≥2 affected individuals. We collected DNA from 23 such families to perform the first linkage study in AAD.We genotyped 117 samples (50 cases, 67 contro...