Endocrine Abstracts

The purpose of this study was to explore the use of testosterone treatment and patients’ knowledge in male hypogonadism. A questionnaire was sent to all 213 patients on testosterone replacement therapy recorded in our clinic database, with a response rate of 35.7% (n=76). Respondents’ age ranged from 19 to 87 years (mean=44.5; S.D.=16.2). Causes of hypogonadism for this group are presented in Table 1.<table boarder="1" cellpadding="3" cellsp...

IntroductionWomen with Turner Syndrome (TS), characterised by the complete or partial absence of one X-chromosome in females, are reported to have an increased risk of coeliac disease, inflammatory bowel disease and angiodysplasia. These may contribute to iron deficiency and anaemia through malabsorption or blood loss. This study screened the serum ferritin and haemoglobin measurements in an adult TS population.MethodSerum ferritin concentrations were measured in 1...

Low bone density in women with androgen insensitivity syndrome [AIS] has been attributed to both androgen and oestrogen deficiency. Tall stature in women with AIS has been attributed to the presence of the Y chromosome and to delayed closure of the epiphyses due to relative sex steroid deficiency. In order to gain greater insight into these interactions we have compared bone density and height in four groups of women-27 women with AIS, 15 women with 46XY gonadal dysgenesis, 25...

Women with Turner’s syndrome (TS) have been reported to have 11.5% relative risk of type 1 diabetes mellitus (DM) and 4.3% relative risk of type 2 DM. However, it is now evident that the traditional categorisation of DM may not be appropriate in this condition as the defect of glucose homeostasis often presents in young non-obese women. In fact, the pattern of insulin secretion in TS seems more likely to be due to beta cells dysfunction or insufficiency, which is reminisc...

Background: The Turner Syndrome Life Course Project, UCLH, has collected data on 810 women with TS, attending clinic for 20 years and has accumulated over 8000 clinic visits. We present an analysis of the effects of timing and type of exogenous oestrogen on health outcomes in adults.Methods: A cross- sectional analysis of 475 subjects with primary amenorrhoea with accurate age of pubertal induction data was performed using correlation coefficients contro...

Background: The Turner Syndrome Life Course Project, UCLH, has collected data on 810 women with TS, attending clinic for 20 years and has accumulated over 8000 clinic visits. We present an analysis of the effects of timing and type of exogenous oestrogen on health outcomes in adults.Methods: A cross- sectional analysis of 475 subjects with primary amenorrhoea with accurate age of pubertal induction data was performed using correlation coefficients contro...

Introduction: 46,XX disorder of sexual development (DSD) is a rare cause of sex reversal. Only a few hundred cases have been described. The clinical spectrum can be divided into 3 groups of males according to genital appearance: normal male, atypical variants such as hypospadias or cryptorchidism, and those with both male and female genitalia.Subcategories of 46,XX DSD include ovotesticular DSD, which is characterised by the presence of both testicular a...

Introduction: Adrenal venous sampling (AVS) is the reference standard test to differentiate between unilateral and bilateral adrenal diseases in patients with primary hyperaldosteronism. Current Endocrine society guidelines recommend AVS in all cases of primary hyperaldosteronism where surgery is desirable and practical. However, this procedure is technically challenging and failure rate is high.Aims: The aim of this audit was to evaluate success rate of...

Langerhans cell histiocytosis (histiocytosis X) is a rare, proliferative monoclonal histiocytic disease of unknown cause that can involve many systems. Intermediate forms of the disease are characterized by a chronic course of a multi-organ involvement, including skin, bone lesions, interstitial lung disease, diabetes insipidus and rarely can involve primarily the thyroid gland.A 23-year-old gentleman presented with weight gain, lethargy and headaches. I...

CHARGE syndrome describes a pattern of birth defects which occurs in about one in every 9–10 000 births worldwide. It consists of a combination of congenital malformations: coloboma, heart defect, choanal atresia, delayed development, genital hypoplasia, ear abnormalities, and/or hearing loss defect. Casual mutations involve the chromodomain helicase DNA-binding protein-7 (CHD7). Gene locus 8q12.1, 7q21.1. The phenotype can also be caused by mutation in the semapho...