Endocrine Abstracts

Infertility is a serious problem in female as well in male CAH patients. The most important cause of male infertility in CAH patients is the presence of testicular adrenal rest tumors (TART). The reported prevalence in adult CAH patients is up to 96%. TART have no malignant features but because of their typical localization near the mediastinum testis, longstanding compression of the seminiferous tubules may lead to obstructive azoospermia and irreversible damage of testicular...

Context: Congenital adrenal hyperplasia (CAH) is caused by 21-hydroxylase deficiency in 95% of the cases. This leads to accumulation of steroid precursors prior to the enzymatic block and increased adrenal androgen production; accordingly serum concentrations of 17-hydroxyprogesterone (17OHP), androstenedione and testosterone are elevated in affected patients.Objective: To analyse the effect of 17OHP, androstenedione and testosterone on aldosterone-media...

Aim of the current glucocorticoid treatment strategies in patients with classic types of CAH due to 21 hydroxylase deficiency is to replace the lack of cortisol (substitution) and, secondly, to suppress excess adrenal androgen production by restoring the negative feedback on ACTH release (suppression).In adolescence, besides adequate substitution, achieving normal puberty and menstrual cycle, preventing hyperandrogenism (hirsutism) and prevention of the ...

Background: There is wide variation in the reported rate of acute adrenal insufficiency (AI) related adverse events (sick day episodes and adrenal crises) between centres.Objective: Evaluate the level of consensus on the criteria that should be considered ‘essential’ for defining and managing adverse events associated with acute AI in children.Methods: Active users of the International Congenital Adrenal Hyperplasia &...

Background: Women with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency have a poor Quality of Life (QoL) compared to the general population and are less satisfied with their body appearance. Data indicates that psychosocial determinants such as good professional and general support could be associated with an improved QoL. Since there is only little data available that has been deduced from samples of small size this effect should be further examined....

Background: Measurement of steroid metabolite excretion in urine by gas chromatography-mass spectrometry (GC-MS) provides a comprehensive profile of an individual’s adrenal and gonadal steroid production. It has long been acknowledged as a useful tool for diagnosis of inborn disorders of steroidogenesis leading to congenital adrenal hyperplasia and disorders of sex development. Ratios of steroid metabolites can be employed as surrogates for enzymatic activities of distinc...

In pregnant women with thyroid diseases an increased amount of LT4 may be required for the correction of hypothyroidism or treatment of nodular goiter. Aim of this study was to assess the amount of the variations of LT4 requirement in pregnant women with thyroid diseases. To address this issue, we retrospectively evaluated a cohort of 107 women treated with LT4 divided in two groups: 42 euthyroid (E) (affected by nodular goiter (NG) treated with LT4 suppressive therapy) and 65...

Background: Recently, GATA transcription factors have been linked to the development of Testicular Adrenal Rest Tumours (TART), benign adrenal-like testicular tumours that frequently occur in male patients with congenital adrenal hyperplasia (CAH). The objective of this study is to determine GATA expression in TART and other steroidogenic tissues, examining their discriminative potential and their possible role in the aetiology of TART.Methods: GATA1-6 e...

Disorders of sex development (DSD) include a conglomerate of rare conditions with discrepancy of the chromosomal, gonadal or phenotypic sex. Since the last 2 decades the genetic causes and the pathogenesis have been identified in many patients with DSD. Multidisciplinary clinical care as decision on the sex of rearing, genital surgery, hormone therapies and psychological support has a life-long impact on the affected persons. However, previous clinical outcome studies of DSD w...

BackgroundPrenatal dexamethasone treatment (Pdex) has been used since the 1980s to prevent virilization in female offspring suspected to have congenital adrenal hyperplasia (CAH). However, due to lack of strong evidence for its best practice as well as limited data regarding longterm adverse effects, use of dex is highly controversial. This study reveals the current medical practice regarding Pdex in female fetuses at risk of CAH due to 21hydroxylase def...