Endocrine Abstracts

Reproduction requires the temporal and spacial control of specific and exact signals, delivered by locally regulated hormonal flux. In the case of androgen biosynthesis, cytochrome P450 17α-hydroxylase, 17,20-lyase (P450c17) is the key enzyme. However, P450c17 is a multi-functional P450, so, it synthesizes cortisol in the zona fascicula of the adrenal cortex and also androgen precursors in the adrenal zona reticularis and the gonads. The regulation of this dual activity h...

Background: The aim of this study was to evaluate salivary androgen measurements via liquid chromatography-mass spectrometry as a non-invasive tool for the diagnosis of polycystic ovary syndrome (PCOS) and the assessment of metabolic health.Methods: Saliva and serum samples of 274 patients with PCOS fulfilling Rotterdam criteria and 51 BMI-matched, premenopausal, healthy controls were analysed for steroid hormones using liquid chromatography/mass spectro...

Background: Early diagnosis of girls with turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or >two dysmorphic features (nail dysplasia, high arched palate, short fourth metacarpal or strabismus).Objectives: The aim of the study was to determine the age and clinical features...

Introduction: Adrenal insufficiency is rare in the neonatal period and if unrecognised may cause life-threatening circulatory collapse. The initial investigations taken at the time of presentation, and prior to the institution of hydrocortisone, are a key step in the diagnostic pathway, and aid the clinician to distinguish adrenal insufficiency from mineralocorticoid resistance or renal tubulopathy. A cortisol measurement at the time of illness is useful to evaluate the adrena...

Background: Adolescent polycystic ovarian syndrome (PCOS) is being diagnosed more frequently as the prevalence of childhood obesity increases. Adolescent PCOS has been associated with low birth weight (LBW), exaggerated adrenarche (EA) and metabolic syndrome in Mediterranean populations. This study describes the clinical phenotype of a cohort of northern European girls.Methods: A retrospective study of adolescents with PCOS, diagnosed according to the Ro...

Introduction: Adrenal insufficiency (primary/secondary) is a rare and potentially life-threatening condition which can be easily overlooked. Patient awareness and management of problems is critical and central to effective treatment. The NICE Clinical Knowledge Summaries for patients identifies and recommends critical areas that require attention in adrenal insufficiency. In particular, patients should:i) Realize the need for lifelong glucocorticoid repl...

Introduction: Santé publique France develops a national epidemiological monitoring program to study health indicators related to endocrine disruptor exposure. Based on the weight of evidence, cryptorchidism was selected for this purpose. In this study, we aimed to analyze temporal, spatial and spatio-temporal trends of cryptorchidism during the period 2002–2014 in France, and explore and/or generate environmental hypotheses.Methods: We built a...

Introduction: Current testosterone replacement therapies have limited acceptability: gels can be messy and risk inadvertent dosing of others; injections are painful; and oral testosterone undecanoate (TU) delivers variable testosterone levels, requires concurrent ingestion of a fatty meal and may produce supraphysiological dihydrotestosterone (DHT) levels1. We present the first human trial of an oral native testosterone preparation formulated to deliver testosterone...

Introduction: Short Synacthen tests (SST) are expensive, inconvenient, time consuming and subject to Synacthen availability. Any strategy reducing the need for SSTs will improve its cost effectiveness and also improve patient satisfaction. In this regard indications for SST and assay specific pre-test cortisol levels (not all SSTs are done at 0900 h) may have clinical utility.Methods: We retrospectively examined the indications for, time and place of tes...

Introduction: Mauriac syndrome is characterized by delayed growth and development, obesity, hepatomegaly and elevated transaminases in type 1 diabetes mellitus (T1DM) patients who have poor glycaemic control. Usually recognized in adolescence, when growth failure and pubertal delay became notorious.Case report: A 19-year-old male was referred to the Endocrinology Department due to short stature. He was severely distressed about his stature and younger ap...