[…] of 35 days, presented with adrenal insufficiency with salt loss. [yumpu.com]

One of our patient had classic presentation of CLAH while the other had atypical presentation marked by mild virilization of genitals and adrenal crisis at 6 months.The differential diagnoses considered in the first patient (with sex reversal) were, congenital [indianpediatrics.net]

The resultant adrenal deficiency of mineralocorticoid and glucocorticoid hormones usually presents during the first weeks of life with salt loss, shock, hyponatremia, hyperkalemia, and hypoglycemia. [cags.org.ae]

Individuals with the non-classic form may not present with symptoms until a few years after birth. Both XY males and XX females have external female genitalia. The treatment for LCAH is similar to that for CAH. [thinkgenetic.com]

The present study is the first one to identify the STAR c.562C T and c.577C T mutations in a patient of Italian ancestry. [ijponline.biomedcentral.com]

[…] genetic counseling and prenatal diagnosis of adrenal hyperplasia Newborn screening programs for 21-hydroxylase deficiency may be lifesaving in an affected male infant who would otherwise be undetected until presentation with a salt-wasting crisis [5] See Workup [emedicine.medscape.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

Versus Conventional Treatment of Children With Congenital Adrenal Hyperplasia Completed NCT00001521 Phase 2 Flutamide;Letrozole;Hydrocortisone 22 Dexamethasone Treatment of Congenital Adrenal Hyperplasia Completed NCT00621985 Phase 2 dexamethasone;Hydrocortisone [malacards.org]

The treatment for LCAH is similar to that for CAH. [thinkgenetic.com]

These patients responded to treatment with glucocorticoid and 9alpha-fludrocortisone. Spontaneous thelarche occurred in association with increased serum estradiol levels at the age of 10 and 11 yr, respectively. [wwww.unboundmedicine.com]

Prognosis With adequate medical and surgical therapy, the prognosis is good. However, problems with psychological adjustment are common and usually stem from the genital abnormality that accompanies some forms of congenital adrenal hyperplasia. [emedicine.medscape.com]

Prognosis CAH can be controlled and successfully treated in most patients as long as they remain on drug therapy. [medical-dictionary.thefreedictionary.com]

Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment. Acta Paediatr. 1998; 87 :159–64. [ PubMed : 9512201 ] White PC, Vitek A, Dupont B, New MI. [ncbi.nlm.nih.gov]

The prognosis is good for benign adenoma, whereas the prognosis is poor for carcinoma. 1 Adashi EY, Levin PA: Pathophysiology and evaluation of adrenal hyperandrogenism. [glowm.com]

Patients with aldosterone deficiency of any etiology may present with dehydration, hyponatremia, and hyperkalemia, especially with the stress of illness. [emedicine.medscape.com]

Treatment Treatment depends on the etiology of Cushing's syndrome. [glowm.com]

Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected. Horm Res Paediatr. 2016;85:35–42. View Article PubMed Google Scholar Bens S, Mohn A, Yüksel B, Kulle AE, Michalek M, Chiarelli F, et al. [ijponline.biomedcentral.com]

· Patients with aldosterone deficiency of any etiology may have dehydration, hyponatremia, and hyperkalemia, especially with the stress of illness. [fetalultrasound.com]

[…] syndrome, LH receptor defects, 5-alpha-reductase type 2 deficiency, mullerian agenesis, primary ovarian insufficiency, hypogonadotropic hypogonadism and turner syndrome. [4] [5] [6] [7] [8] [9] [10] [11] Differential diagnosis for primary amenorrhea : Epidemiology [wikidoc.org]

Genatlas disease for STAR Gene congenital lipoid adrenal hyperplasia,with neonatal onset of severe adrenal insufficiency and male pseudohermaphroditism Relevant External Links for STAR Genetic Association Database (GAD) STAR Human Genome Epidemiology [genecards.org]

Epidemiology Race Congenital adrenal hyperplasia occurs among people of all races. Congenital adrenal hyperplasia secondary to CYP21A1 mutations and deletions is particularly common among the Yupik Eskimos. [emedicine.medscape.com]

[…] androstenedione, and testosterone Every 3 months during infancy and every 3-6 months thereafter For assessment of mineralocorticoid replacement Blood pressure measurement Plasma renin/renin activity Aldosterone and potassium levels may also be helpful Background Epidemiology [arupconsult.com]

Epidemiology and Population Genetics Results of newborn screening in a number of localities around the world 23 – 27 yield a worldwide incidence of classic 21-hydroxylase deficiency of approximately 1 in 14,500 live births, ranging from 1 in 8586 28 to [clinicalgate.com]

"The pathophysiology and genetics of congenital lipoid adrenal hyperplasia". N. Engl. J. Med. 335 (25): 1870–8. doi : 10.1056/NEJM199612193352503. PMID 8948562. [wikidoc.org]

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med. 1996;335:1870-8. 2. Bhangoo A, Gu WX, Pavlakis S, Anhalt H, Heier L, Ten S, et al. [indianpediatrics.net]

This is explained by the two-hit model of the pathophysiology of lipoid CAH proposed by Bose et al 6. According to the two-hit model, the pathophysiology of lipoid CAH results from two different events taking place in the adrenal cell. [hormones.gr]

Congenital adrenal hyperplasia, which also dates to the first half of the century, has become the preferred term to reduce ambiguity and to emphasize the underlying pathophysiology of the disorders. [psychology.wikia.com]

Jun 2006 Travel Award in The Endocrine Society’s 88th annual meeting May 2016 Science Award, Japan Pediatric Society Sep 2014 Science Award, Japanese Society for Pediatric Endocrinology Published Papers Plain Text 1 2 3 4 In Vivo Verification of the Pathophysiology [researchmap.jp]

The fetal testis is stimulated and thus damaged by absence of functional StAR early in gestation, leading to lack of testosterone and preventing development of male external genitalia. [caresfoundation.org]

CYP11A1, StAR, CYPOR deficiencies (very rare) CAH due to CYP11B1 deficiency prevents ___, which leads to ... prevents cortisol synthesis 1. increased ACTH leads to elevated androgens (virilization) 2. aldosterone is often increased CAH due to CYP11B1 [quizlet.com]

This means that a number of fetuses are exposed to unnecessary steroid treatment in order to prevent the development of male-like genitals in female fetuses with CAH. [medical-dictionary.thefreedictionary.com]

High dose mineralocorticoid supplements or salt should be avoided to prevent high blood pressure. [rarediseases.org]