Endocrine Abstracts

Reproductive endocrinology spans the interface between ‘mainstream’ endocrinology, paediatric endocrinology and gynaecology, with excursions into genetics and psychology. This subspecialty is a fertile ground for clinical research. The field of Turner syndrome – ‘Turnerology’ – is a perfect example of where an endocrinologist has a lot to contribute with knowledge of oestrogen physiology, diabetes, osteoporosis as well as cardiovascular disease, g...

The action of insulin acting as a co-gonadotrophin in women with PCOS has long been a focus of research. In western populations, a key environmental effect on PCOS is through the obesity epidemic. The resulting insulin resistance has direct effects on the clinical manifestation of PCOS with serum insulin showing positive associations with BMI, serum testosterone, AMH and variably with ovarian volume. AMH is a particularly interesting marker of PCOS with respect to insulin as d...

Women with a 46XY karyotype comprise a heterogeneous group who differ not only in their diagnostic category and anatomy but also in their journey from paediatric to adult services. Transition care should be an individualised process covering past experiences, current medical and surgical needs and future prospects is required for optimal wellbeing. A multidisciplinary team is helpful in providing this care and liaison with supports groups (for instance the AISSG) is essential ...

Until recently it was usual to discharge teenagers with TS to primary care once final height had been attained in the paediatric setting. It is now clear that adults with TS benefit from dedicated TS clinics in order to optimise health care for this commonly neglected group. In adult life there is a great deal of preventable morbidity in TS which lies within the endocrine remit: osteoporosis, hypothyroidism, obesity, diabetes, hyperlipidaemia and hypertension. Other disorders ...

Background: Auto-immune pancreatitis (AIP) is a rare chronic inflammatory disease, characterised by raised serum levels of IgG4, which may mimic pancreaticobiliary malignancy, and is noted to have an IgG4-positive plasma cell infiltrate on pancreatic histology. Extrahepatic manifestations in liver, kidneys, and retroperitoneum, are increasingly recognised.We present a case of extrapancreatic manifestation of AIP in the pituitary gland causing lymphocytic...

Objectives: The syndrome of CAIS is the result of loss of function mutations of the androgen receptor. Women with CAIS present with primary amenorrhea, absent uterus and 46XY karyotype. Little is known about the long term natural history of this condition, in particular the risk of heart disease in adults. Here we report on biochemical risk markers in a group of women with CAIS compared to a control group with ovarian failure who were matched for their use of exogenous oestrog...

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...