Endocrine Abstracts

Introduction: Idiopathic calcification of basal ganglia (Fahr’s syndrome) is a rare pathology, mostly incidental finding or familial origin, characterized by cognitive, behavioural and motor impairment, as well as by metabolic changes, such as primary hypoparathyroidism.Report: We report a case of a 59-years old white lady who was referred to our clinic for an evaluation due to suspected Fahr’s syndrome. She had a 20 years long history of moder...

Adrenocortical cancer (ACC) is a rare and challenging malignancy for clinicians. The cornerstone of imaging for the diagnosis of ACC or re-evaluation of known ACC is thin-collimation computed tomography (CT) without contrast and after early and late washout of contrast medium. Although size and shape of adrenal lesions must be taken into consideration to differentiate adenomas from other adrenal lesions, it is pre- and post-contrast adrenal lesion density, measured in Hounsefi...

The main functions of the two pituitary gonadotrophic hormones, luteinising hormone (LH) and follicle stimulating hormone (FSH), and of the placental choriongonadotropin (hCG), are well characterized today. In clinical medicine, gonadotrophin measurements in peripheral serum form a valuable tool in the diagnosis of disorders in sexual development and fertility, and gonadotrophins are the mainstay in infertility treatments. A great deal of the new information about physiology a...

The androgen receptor (AR) is the conduit for androgen-induced fetal male sex differentiation, the acquisition of secondary sexual characteristics at male puberty and subsequently, the onset of spermatogenesis. The AR is expressed ubiquitously in early fetal development to permit male sex differentiation to occur: stabilisation of the Wolffian ducts to form the vas deferens, epididymis and seminal vesicles and morphogenesis of the genital tubercle and folds to form the penis, ...

Around birth, beginning in mid-pregnancy and lasting until lactation, dramatic neuroendocrine and behavioural adaptations occur in the maternal organism as, for example, the reactivity of the HPA axis to various stressors is blunted. Further, state anxiety, the emotional evaluation of a stressorand the level of calmness are altered at this time. In addition to an attenuated feed forward drive to the HPA axis, reduced activity of the CRH system, and lack of excitatory inputs to...

Gender or sex assignment is instantaneous at birth in the vast majority of infants. Rarely, the external genitalia are sufficiently ambiguous to render an assignment impossible and genetic, hormonal and radiological investigations are necessary before a decision can be reached about the sex of rearing. The commonest cause of such ambiguous genitalia is adrenal 21-hydroxylase deficiency (congenital adrenal hyperplasia) leading to virilisation of an affected female newborn. The ...

The hormone oestrogen is reported to be the most widely prescribed drug worldwide through its use in the contraceptive pill and in hormone replacement therapy (HRT). Oestrogen and HRT has been widely prescribed for prevention of osteoporosis and relief of menopausal symptoms. However, as women age, their risk of stroke and heart disease also increases, particularly after the menopause. The effects of oestrogen on stroke risk and on the ischaemic brain are complex and still not...

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid biosynthesis.For the paediatric endocrinologist,the presentation is at birth manifest as ambiguous genitalia in girls and as salt loss in both sexes.The affected male has normal external genitalia and the salt loss is delayed until the second week of life.Hence,a life threatening salt-losing crisis may occur accounting for the sex imbalance of this disorder in the past.Several cou...

The recent discovery of human mutations in genes encoding gonadotrophins and their receptors has greatly expanded our knowledge about the pituitary-gonadal function. Further information has been obtained from the numerous gene-modified animal models where the normal pituitary-gonadal function has been disrupted either by transgenic or gene disruption techniques. These studies have unravelled, for instance, the specific functions of the two gonadotropins, FSH and LH, in the abs...

Ilpo Huhtaniemi, Department of Physiology, University of Turku, Finland and Institute of Reproductive and Developmental Biology, Imperial College Faculty of Medicine, London, UK AbstractIlpo Huhtaniemi received his MD (1972) and PhD (1974) degrees at University of Helsinki, Finland, did his postdoctoral training in the US (UCSF and NIH, Bethesda), and has been a visiting scientist in Germany (University of Heidelberg) ...