Endocrine Abstracts

Objective: Nonalcoholic fatty liver disease (NAFLD) is a hallmark of the metabolic syndrome and has been shown to be an independent predictor of cardiovascular mortality. Although glucocorticoids and growth hormone are known to be implicated in its pathophysiology, it has only rarely been investigated in the context of patients with pituitary insufficiency or former cortisol excess.Design: Case-control study, including patients with biochemically control...

Introduction: Sex steroid hormones exert a wide range of effects on metabolism. New techniques such as metabolomic profiling allow for a deeper insight into metabolic regulation. In epidemiological samples it has been demonstrated that most of these metabolites show sex-specific differences. However, if these differences are attributable to the effects of sex hormones or genetics is little understood so far.Methods: We performed targeted metabolomics pro...

BackgroundRoutine biochemical assessment in patients with congenital adrenal hyperplasia (CAH) includes measurement of serum 17–hydroxyprogesterone (17OHP), androstenedione (A4) and testosterone (T) and their metabolites in urine. Several studies have also described 11–oxygenated 19–carbon (110 × C19) steroids as a clinically relevant androgenetic source and highlighted their potential as markers for evaluation of adrenal androgen exc...

Treatment of transgender patients has gained increasing importance in outpatient endocrinological care due to a steadily rising influx of patients in recent years. Many gaps in knowledge regarding hormonal therapy have been filled in recent years thanks to a growing body of literature based on larger cohort studies. Nowadays therapy can be regarded as safe and effective. While puberty arrest and peripubertal hormone treatment in transgender youth has gained growing acceptance ...

Neuroimaging techniques have improved over the last years; hence an “empty sella” is more often incidentally diagnosed. The term “empty sella” describes a missing pituitary gland in the sella turcica. Up to now, it is not known if routine endocrine assessment is necessary in patients with primary empty sella syndrome (PES) without clinical suspicion or history of neuroendocrine disorders.We performed a systematic literature research u...

Objective: Sexual orientation in males and females is considered to be determined in early life and to be virtually unchangeable in the course of adulthood. In contrast some transsexuals report a change in their sexual orientation most overt following sex reassignment procedures. The reason for this phenomenon is unknown.Methods: We asked 106 transsexual (66 MtF and 40 FtM) patients from our endocrine outpatient clinic to complete a questionnaire, retros...

Cathepsin K is a cysteine protease known for its importance in bone remodelling. Inhibitors of cathepsin K are in clinical trials for osteoporosis treatment, but side effects included altered levels of related cathepsins in peripheral organs and in the central nervous system (CNS). Importantly, cathepsin K has been identified not only in osteoclasts but also in most epithelia and, recently, in brain parenchyma. Lately, we have also shown that cathepsin K deficiency in mice ind...

Background: Glucocorticoid (GC) substitution therapy in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is not able to perfectly mimic physiological circadian profiles. Unphysiologically high doses, as well as unphysiological variations in GC concentrations might cause adverSemetabolic, cardiovascular and immunological effects. Previous publications have demonstrated dysregulations in immune cell profiles of patients with primary adrenal ins...

Background: Hypogonadism is frequent in men with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). It has recently been demonstrated that testicular adrenal rest tumors (TART) are a source of 11-oxygenated androgens that might impair testicular function, in addition to their local compressive effects. Data on long-term course of testicular function in men with 21OHD and the role of potential influential factors such as presence of TART and 11-oxyge...

Background: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is associated with ACTH-driven adrenal androgen excess. In women with classic CAH, this regularly causes prenatal virilisation of the external genitalia, commonly corrected by genital surgery during the first years of life. This practice, however, has been questioned and is discussed highly controversial. The aim of this study was to retrospectively assess the perspective of affected patients and...