• It is used primarily to replace the missing hormone aldosterone in various forms of adrenal insufficiency such as Addison's disease and the classic salt-wasting (21-hydroxylase deficiency) form of congenital adrenal hyperplasia. (wikipedia.org)
  • Congenital adrenal hyperplasia, or CAH, is a group of autosomal recessive disorders resulting in the deficiency of one of the enzymes required to synthesize cortisol (1). (bjuinternational.com)
  • Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency 21-Hydroxylase (CYP21A2) deficiency causes defective conversion of adrenal precursors to cortisol and, in some cases, to aldosterone, sometimes resulting in severe hyponatremia and hyperkalemia. (msdmanuals.com)
  • Congenital Adrenal Hyperplasia Caused by 11Beta-Hydroxylase Deficiency 11Beta-hydroxylase (CYP11B1) deficiency involves defective production of cortisol, with accumulation of mineralocorticoid precursors, resulting in hypernatremia, hypokalemia, and hypertension. (msdmanuals.com)
  • Fludrocortisone is also a confirmation test for diagnosing Conn's syndrome (aldosterone-producing adrenal adenoma), the fludrocortisone suppression test. (wikipedia.org)
  • Corticosteroids can produce reversible HPA axis suppression with the potential for glucocorticosteroid insufficiency after withdrawal of treatment. (recallguide.org)
  • Fludrocortisone, sold under the brand name Florinef, among others, is a corticosteroid used to treat adrenogenital syndrome, postural hypotension, and adrenal insufficiency. (wikipedia.org)
  • Results from one multicenter, randomized, placebo-controlled study with methylprednisolone hemisuccinate, an IV corticosteroid, showed an increase in early (at 2 weeks) and late (at 6 months) mortality in patients with cranial trauma who were determined not to have other clear indications for corticosteroid treatment. (recallguide.org)
  • Relative to cortisol, it is said to have 10 times the glucocorticoid potency but 250 to 800 times the mineralocorticoid potency. (wikipedia.org)
  • Overview of Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia is a group of genetic disorders, each characterized by inadequate synthesis of cortisol, aldosterone, or both. (msdmanuals.com)
  • Endocrine Meeting 2018 welcomes all the Endocrinologists , Diabetologists, and other medical & clinical experts working the arena of Endocrinology , Metabolic Syndrome and related field to this upcoming Euro Endocrinology Meeting at Paris, France. (endocrineconferences.com)
  • Among the new compounds, 1 (IC50 = 7.6 µM) and 5 (9.1 µM) possessed relatively strong inhibitory activity against aromatase, which is a target of drugs already used in clinical practice for the treatment and prevention of estrogen-dependent breast cancer. (bvsalud.org)
  • Due to its effects on increasing Na+ levels, and therefore blood volume, fludrocortisone is the first-line of treatment for orthostatic intolerance and postural orthostatic tachycardia syndrome (POTS). (wikipedia.org)
  • To date, only eleven cases of OART have been described in the English-speaking literature(6) making it difficult to choose an optimal treatment approach for affected patients. (bjuinternational.com)
  • Women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency, especially those patients with the salt-losing form, have decreased fertility rates. (nih.gov)
  • These glucocorticoid-treated women gave birth to four healthy female newborns with normal female external genitalia, none of whom were affected with 21-hydroxylase deficiency. (nih.gov)
  • It is used primarily to replace the missing hormone aldosterone in various forms of adrenal insufficiency such as Addison's disease and the classic salt-wasting (21-hydroxylase deficiency) form of congenital adrenal hyperplasia. (wikipedia.org)
  • Congenital Adrenal Hyperplasia Caused by 21-Hydroxylase Deficiency 21-Hydroxylase (CYP21A2) deficiency causes defective conversion of adrenal precursors to cortisol and, in some cases, to aldosterone, sometimes resulting in severe hyponatremia and hyperkalemia. (msdmanuals.com)
  • Congenital Adrenal Hyperplasia Caused by 11Beta-Hydroxylase Deficiency 11Beta-hydroxylase (CYP11B1) deficiency involves defective production of cortisol, with accumulation of mineralocorticoid precursors, resulting in hypernatremia, hypokalemia, and hypertension. (msdmanuals.com)
  • 21-hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia (CAH), a family of autosomal recessive disorders involving impaired synthesis of cortisol from cholesterol by the adrenal cortex. (nih.gov)
  • C28193 Syndrome C118467 Pediatric Endocrine Terminology C131083 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency 11 Beta-Hydroxysteroid Dehydrogenase Type 2 Deficiency Apparent Mineralocorticoid Excess Decreased activity of 11-beta-hydroxysteroid dehydrogenase type 2, which catalyzes the conversion of cortisol to cortisone due to autosomal recessive deactivating mutation(s) in the HSD11B2 gene. (nih.gov)
  • C3492 Enzyme Deficiency C118467 Pediatric Endocrine Terminology C131085 11-Beta-Hydroxylase Deficiency 11-Beta-Hydroxylase Deficiency Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. (nih.gov)
  • acquired immune deficiency syndrome , acquired immunodeficiency syndrome an epidemic, transmissible retroviral disease caused by infection with the human immunodeficiency virus, manifested in severe cases as profound depression of cell-mediated immunity, and affecting certain recognized risk groups. (topgrowupclinic.eu)
  • Fludrocortisone, sold under the brand name Florinef, among others, is a corticosteroid used to treat adrenogenital syndrome, postural hypotension, and adrenal insufficiency. (wikipedia.org)
  • Fludrocortisone is mostly a mineralocorticoid, but it also has glucocorticoid effects. (wikipedia.org)
  • Relative to cortisol, it is said to have 10 times the glucocorticoid potency but 250 to 800 times the mineralocorticoid potency. (wikipedia.org)
  • Newborn screening programs aim to identify infants with classic 21-OHD CAH in order to initiate glucocorticoid and mineralocorticoid treatment prior to a potentially life-threatening salt-wasting crisis. (nih.gov)
  • The condition is characterized by immunodeficiency, unusual facies, congenital heart anomalies (tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect), hypoparathyroidism, and increased susceptibility to infections. (nih.gov)
  • individuals with non-classic CAH typically require glucocorticoid replacement only when symptomatic ( 3 ). (frontiersin.org)
  • Symptomatic individuals with non-classic 21-OHD CAH may require treatment. (nih.gov)
  • Budd-Chiari syndrome symptomatic obstruction or occlusion of the hepatic veins, causing hepatomegaly, abdominal pain and tenderness, intractable ascites, mild jaundice, and eventually portal hypertension and liver failure. (topgrowupclinic.eu)
  • Barrett's syndrome peptic ulcer of the lower esophagus, often with stricture, due to the presence of columnar-lined epithelium, which may contain functional mucous cells, parietal cells, or chief cells, in the esophagus instead of normal squamous cell epithelium. (topgrowupclinic.eu)
  • battered-child syndrome multiple traumatic lesions of the bones and soft tissues of children, often accompanied by subdural hematomas, willfully inflicted by an adult. (topgrowupclinic.eu)
  • PMID- 5428683 TI - The lesions of congenital syphilis. (nih.gov)
  • In three women, circulating androgen levels increased during gestation, but remained within the normal range for pregnancy during glucocorticoid therapy. (nih.gov)
  • Overview of Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia is a group of genetic disorders, each characterized by inadequate synthesis of cortisol, aldosterone, or both. (msdmanuals.com)
  • Brown-Vialetto-van Laere syndrome an inherited syndrome of progressive bulbar palsy with any of several cranial nerve disorders. (topgrowupclinic.eu)
  • basal cell nevus syndrome an autosomal dominant syndrome characterized by the development in early life of numerous basal cell carcinomas, in association with abnormalities of the skin, bone, nervous system, eyes, and reproductive tract. (topgrowupclinic.eu)
  • PMID- 5428628 TI - The lysosomal nature of the anomalous granules and chromosome aberrations in cultures of peripheral blood in Chediak-Higashi syndrome. (nih.gov)
  • Diagnosis and Therapy Before Assisted Reproductive Treatments. (thieme-connect.de)
  • The first German/Austrian/Swiss interdisciplinary S2k guideline on "Diagnosis and Therapy Before Assisted Reproductive Treatments (ART)" was published in February 2019. (thieme-connect.de)
  • It is appropriate to measure 17-hydroxyprogesterone (17-OHP) of at-risk sibs to facilitate early diagnosis and treatment. (nih.gov)
  • During childhood, hydrocortisone, a short-acting glucocorticoid, is used for replacement therapy to minimize the adverse impact on growth from long‐acting glucocorticoids. (frontiersin.org)
  • Classic 21-OHD CAH: glucocorticoid replacement therapy, which needs to be increased during periods of stress. (nih.gov)
  • Classic CAH requires life-long glucocorticoid replacement ( 2 ). (frontiersin.org)
  • Fludrocortisone is also a confirmation test for diagnosing Conn's syndrome (aldosterone-producing adrenal adenoma), the fludrocortisone suppression test. (wikipedia.org)
  • DiGeorge Syndrome Type 2 A congenital condition caused by a deletion on the short arm of chromosome 10p13-p14. (nih.gov)
  • Due to its short half-life, treatment with hydrocortisone can lead to alternating states of hypercortisolemia and hypocortisolemia with resultant hyperandrogenemia ( 7 , 8 ). (frontiersin.org)
  • Aarskog syndrome , Aarskog-Scott syndrome a hereditary X-linked condition characterized by ocular hypertelorism,anteverted nostrils, broad upper lip, peculiar scrotal "shawl" above the penis, and small hands. (topgrowupclinic.eu)