Active clinical trials for "Adrenocortical Hyperfunction"

The aim of this study is to compare the effects of tablet treatment, circadian and combined circadian and ultradian subcutaneous hydrocortisone infusion on steroid metabolism and tissue responses to therapy.

Subclinical hypercortisolism (SH) is a status of asymptomatic hypercortisolism, frequently found in patients with adrenal adenomas (estimated prevalence: 0.8-2% after 60 years of age). Although SH may lead to diabetes, hypertension and osteoporosis, the diagnostic SH criteria and those suggesting the need of adrenalectomy are debated. Indeed, beside the cortisol secretion, the individual cortisol sensitivity may play a role in determining the SH consequences. Subjects with possible SH due to adrenal adenoma will be randomized to surgery/conservative follow up. The effects of surgery on the cardiovascular, bone, metabolic complications of SH and on neuropsychological aspects and quality of life (QoL) and the possibility to predict them by using cortisol sensitivity and secretion markers will be studied. The study may clarify how to individuate patients who can benefit from surgery. These results will help reducing the costs of both useless surgical operations and SH consequences.

Background and Rationale: The vaginoplasty remains a challenge for the surgeon. The most commonly used techniques have been: the Y-V plasty described by fortunoff for low vagina, the pullthrough operation described by Hendren and Crawford for high vagina, and the passerini-Glazer technique . None of these procedures is entirely satisfactory; with the first two, the neovagina has a tendency to become stenotic in most cases. Moreover, in the third, in addition to the high rate of stenosis, which is encountered in a third of case , the high rate of urethro-vaginal fistulas is unacceptable Objectives : To describe and evaluate a surgical technique for vaginoplasty that is easy to realize with fewer complications especially vaginal stenosis. Study population & Sample size : 24 patients suffering from congenital adrenal hyperplasia (CAH) presenting to outpatient clinic of diabetis Endocrine And Metabolism Pediatric Unit (DEMPU) of Cairo University Specialized Pediatric Hospital will be considered. Study Design : non-controlled prospective clinical trial with all patients included in single group Methods: Cystoscopy will be done promptly before proceeding to surgery, Confluence depth more than 20 mm is considered high anomaly, feminizing genitoplasty will be done as a one-stage procedure, One month after operation, examination under anesthesia will be done with calibration of vagina. Possible Risk (s) to study population : The risk of this study is involving a vulnerable group of females which exposed to lengthy operation may complicate with bleeding and need for blood transfusion, infection early after surgery or vaginal stenosis. Outcome parameter (s): Vaginal calibration using hegars dilators Urodynamics for females older than 3 years and complaining from incontinence

Congenital adrenal hyperplasia (CAH) is a genetic rare disease, which alters the adrenal production of gluco and mineralo corticoids. The treatment consists in supplementing children using hydrocortisone. Despite care for these children has improve substantially across decades, short adult height still remains an important consequence of the disease. About 20 % of patients have an AH below 2 standard deviations compared to their expected height. In the OPALE model study, the investigators have collected data from a cohort of 496 French patients, born between 1970 and 1991 and with a known genotype. Using their age, sex, growth, disease, bone maturation and pubertal data, they have built a model which allows to predict their AH using data available at 8 years of age. This model has shown that the currently used formula to calculate the predicted AH (Bayley Pineau's method) is not applicable to children with CAH. In this project, the investigators plan to use the prediction model to compare the AH in patients who have received GH treatment to their predicted AH using the model. The hypothesis is that GH improves the AH in such patients. Existing cohorts have shown improved growth celerity, and growth expectation using the Bayley-Pineau formula), but this has not been shown on the actual AH. This study will allow to reinforce the investigators' hypothesis.

According to scientific revisions, salivary cortisol is a valid method for measuring adrenocortical activity in newborns because it is non-invasive in fact the measurement of salivary cortisol has been used as a stress marker in newborns since 1992. The mechanism by which cortisol induces stress, concerns the hypothalamic-pituitary-adrenal axis. The hypothalamus produces the corticotropin-releasing hormone, which stimulates the production of adrenocorticotropin by hypophysis. Adrenocorticotropin induces the secretion of glucocorticoids such as cortisol by stimulating the cortex of the adrenal gland. An appropriate release of cortisol due to stress factor is vital for surviving and the loss of this mechanism increase the risk of morbidity and mortality for newborns. However, prolonged exposure to a high level of cortisol may increase the risk of cognitive and behavioural disorders, hypertension, hyperlipidaemia, insulin resistance, immune deficiency and hippocampal impairment. The separation from the mother, the exposure to painful procedures but also routine interventions such as physical examination, diaper changes and bathing increase the salivary cortisol level of the newborn compared to the basal state. The measurement of salivary cortisol in the newborn therefore has the aim of understanding and preventing those stressful conditions that may have long-term side effects. For this reason, the lose weight in the first days and double weighing should be a stress practice for the newborn.

Treatment with glucocorticoids and mineralocorticoids has changed congenital adrenal hyperplasia (CAH) from a fatal to a chronic lifelong disease. Long-term treatment, in particular the chronic (over-)treatment with glucocorticoids, may have an adverse effect on the cardiovascular risk profile in adult CAH patients. The objective of this study was to evaluate the cardiovascular risk profile of adult CAH patients.

Benign enlargements of the adrenal glands (adrenal adenomas) are frequent in adults. In the general population these adenomas are rare in subjects below 40 years of age but at the age of 60 and 80 years the prevalence is 6 and 8-10 % respectively. Since these adenomas do not causes obvious symptoms they are almost exclusively found incidentally in patients examined radiologically for other reasons than suspected adrenal disease. These enlargements are thus termed adrenal incidentalomas (AI). AI may secrete cortisol and more than 25 percent of patients with an AI have increased cortisol levels called autonomous cortisol secretion (ACS). Such increased secretion of cortisol may cause metabolic complications such as hypertension, high cholesterol, diabetes and cardiovascular disease. Studies have shown that ACS may cause increased mortality. These studies are however small and have not adequately taking other conditions into account which most likely influences the result. The investigators hypothesis is that ACS is linked to increased mortality as the previous studies have shown. The aim is to perform a larger study on patients with adrenal incidentalomas, both with and without ACS, and compare the mortality rates with a control group matched for age and sex. This study may more precisely describe the cardiovascular risk for ACS and define the risk at different levels of ACS.

Congenital Adrenal Hyperplasia (CAH) is one of the commonest inherited diseases, affecting 1:14,200 live births. It is the result of a genetic defect in one of the enzymes (in most cases 21-hydroxylase) required for cortisol biosynthesis, leading to reduced levels of cortisol and aldosterone, increased ACTH concentrations and consequently increased adrenal androgen production. Patients suffer from problems with growth and development and as adults patients may have problems with fertility, virilisation in women, testicular masses in men and both men and women have an impaired quality of life. Patients have to take life-long therapy. Despite its frequency knowledge surrounding the management of adults with CAH remains fairly limited. There has been a lot of work describing the management of children with CAH but to date there is no consensus on how to manage adults. To address this issue a number of adult endocrinologists in the UK under the auspices of the Society for Endocrinology have established a country wide study (CaHASE) to undertake research in order to set standards of care for adult patients with CAH. In CAH the severity of the symptoms experienced by affected individuals varies depending on the mutation and the genetic background of the individual. The ability to tailor CAH therapy on an individual basis, as determined by the severity of the underlying defect and an understanding of the likely natural history of the disease, is a key goal in clinical management. Correlation of phenotype (clinical status) and genotype (the underlying 21 hydroxylase gene mutation) will facilitate stratification of severity and provide an important contribution to the debate on potential mechanisms of individualised therapy. For instance it may become clear that certain CAH genotypes are associated with specific long term outcomes. In time, this could lead to suggesting different treatment strategies in certain groups. Moreover, genotype data are important if we are to address the relative contribution of environment (e.g. treatment) vs. genetics on long term outcomes. This multi-centre study aims to: - Investigate the medical health of adults with congenital adrenal hyperplasia. - Investigate the relationship between the genotype of the patient and the phenotype. - Investigate the quality of life of adults with congenital adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) in its classic neonatal form with severe salt-wasting represents a challenge for pediatric endocrinologists in order to maintain sodium balance, especially as the physiopathology and optimal therapeutic management of this urinary salt loss remain poorly studied, particularly during the neonatal period. The human kidney presents the characteristic of being immature at birth with a functional tubulopathy associating sodium wasting and difficulty to concentrate urine, in connection with a transient renal resistance to aldosterone action, which is exacerbated in case of CAH by insufficiency of aldosterone production. The objective of project is therefore to study the secretion profiles of plasma and urinary steroids in neonates with classical salt-wasting form of CAH before treatment and under treatment with Fludrocortisone and Hydrocortisone during the first months of life, using an advanced technology: LC-MSMS (Liquid chromatography coupled with tandem mass spectrometry). The study of the existence of a correlation between plasma and urinary steroid profiles will also make it possible to subsequently consider simplified medical follow-up for these patients. This project will lead to a better understanding of sodium handling and steroid secretion and excretion profiles in CAH neonates, in order to improve the therapeutic management of mineralocorticoid replacement in these patients.

Background: - Polycystic ovarian syndrome (PCOS) is a group of disorders related to problems with the secretion of certain hormones, which can lead to reproductive and other issues in women. Frequent complications of PCOS include irregular menstruation, development of ovarian cysts, and insulin resistance. The adrenal glands, which sit on top of the kidney, are involved in the production of certain hormones and the regulation of steroid levels in the blood, and may be affected in women with PCOS. Researchers are interested in studying possible connections between the adrenal glands and PCOS in young women who have been diagnosed with PCOS and healthy volunteers with normal menstrual function. Objectives: - To investigate possible connections between adrenal gland steroid hormone secretion and polycystic ovarian syndrome. Eligibility: Women between 16 and 29 years of age who have been diagnosed with PCOS, or who are healthy volunteers with normal menstrual function. Participants must be willing to discontinue the use of oral contraceptives or any other medications that alter steroid hormone production for at least 1 month before the start of the study. Design: Participants will be screened with a physical examination, medical history, and blood and urine tests. All participants will also have a pelvic (ovarian) ultrasound. All participants will be admitted to the hospital for a 1-week testing period, which will involve the following tests: Regular blood draws for two 2-hour periods (late evening and early morning) to measure hormone levels Fasting blood draws with a dose of corticotropin to test the body's adrenal function Hormone level measurement following regular doses of dexamethasone (a drug that controls the function of the adrenal gland) Daily urine collection for 6 days. Other studies, such as imaging studies of the adrenal glands, may be conducted as required by the study researchers.