Case presentation We describe a 33-year old Chinese man who presented in infancy with life-threatening hyponatraemia and failure to thrive, but remained asymptomatic on fludrocortisone since. [bmcendocrdisord.biomedcentral.com]

HISTORY Similarly, most patients with a gastro-enterological and neurological problem will present with a specific Present history symptom - diarrhoea, or tremor - which will direct attention to that organ system. [books.google.de]

A 15-year-old phenotypic female with XY genotype presented with male pseudohermaphroditism, gynecomastia, hypokalemic alkalosis, and hypertension. Being raised as a girl, the patient failed to menstruate and developed no sexual hair. [ncbi.nlm.nih.gov]

A study of the regulation of normal steroidogenesis by adrenocortical structure is well presented. A chapter is devoted to possible role of vascular system in neural stimulations. [books.google.com]

[…] deficiency type I FHHA1 Prevalence: - Inheritance: - Age of onset: - ICD-10: E27.4 OMIM: 203400 610600 UMLS: C0268293 MeSH: - GARD: 5660 MedDRA: - Summary This disease is described under Familial hypoaldosteronism The documents contained in this web site are presented [orpha.net]

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.de]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

[…] chromatography patients Pediatrics phenylalanine phenylketonuria plasma population prenatal recessive reported result screening programs Scriver sensorineural sickle cell significant specific studies syndrome Table techniques testosterone therapy tion trait treatment [books.google.com]

It is known that the precondition of effective treatment is a definitive clinical diagnosis ( 20 ). [spandidos-publications.com]

Our case illustrates the clinical significance to recognize this condition as it has a good long-term prognosis when adequate fludrocortisone replacement is instituted. [bmcendocrdisord.biomedcentral.com]

Life-long hormone replacement therapy (gluco- and mineralocorticoids for the classical forms with salt wasting, and glucocorticoids for the simple virilizing forms) requires close follow-up (pediatric through to adulthood) and has improved the prognosis [medicbind.com]

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

[…] a role of serotonin in human disorders related to altered motor activity and cognitive processes, not necessarily limited to a specific diagnostic category.10 It also illustrates that rare genetic variants with strong effects may be involved in the etiology [nature.com]

Role of 1,25 dihydroxyvitamin D3 (soltriol) in etiology and therapy of seasonal affective disorder and other mental processes. Psychopharmacology 1989; 97:285-294. 102. Sun X, Zemel MB. [dr-gahlen.de]

PCOS GENETIC HERITABILITY Since 1968, studies have suggested an important genetic role contributing to the etiology of PCOS (35). [scielo.br]

Relevant External Links for CYP11B2 Genetic Association Database (GAD) CYP11B2 Human Genome Epidemiology (HuGE) Navigator CYP11B2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CYP11B2 No data available for Genatlas for CYP11B2 Gene Polymorphisms [genecards.org]

Epidemiology of cancer risk. Vitamin D and calcium. In: Vitamin D. Feldman D, Pike JW, Glorieux FH, ed. New York, Elsevier Press Inc. 2005:1617-1634. 7/9 39. Glerup H, Eriksen EF. Muscles and falls. In: Vitamin D. Feldman D, eds. [dr-gahlen.de]

Other epidemiological studies in unselected populations reported the prevalence of 40–45% for classic phenotype, 35% for ovulatory phenotype and 20% for normoandrogenic phenotype (8). [scielo.br]

[…] been described in which the ability to conserve sodium was intact. 108, 110, 111, 113, 115, 116, 117, 118, 119, 120, 121, 122, 123 It is claimed that 3 β -HSD deficiency is the second most common steroidogenic defect, 124 but as yet there have been no epidemiologic [glowm.com]

Covers the full spectrum of reproductive pathophysiology and disorders, from pregnancy and birth to reproductive aging. Includes the work of leaders in the field of reproductive endocrinology for guidance you can trust. [books.google.de]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test The cause of congenital adrenal hyperplasia (CAH) is an inherited genetic defect that results in decreased formation of 1 of [mayomedicallaboratories.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Corticosterone is a steroid hormone and a precursor molecule for aldosterone. [mayocliniclabs.com]

Rare variants with large effects in a specific gene may be found in extreme phenotypes, which can provide insights into the underlying pathophysiology of the common disorder (61). [scielo.br]

In New MI, Levine LS (eds): Adrenal Diseases in Childhood: Pathophysiologic and Clinical Aspects, Vol. 13, pp 47–71. [glowm.com]

With illness, corticosteroid dosages are increased (typically doubled or tripled) to prevent adrenal crisis. Mineralocorticoid replacement is not adjusted. [msdmanuals.com]

In the second sibling, masculinization could be completely prevented by early prenatal dexamethasone treatment of the mother. [frontiersin.org]

This adrenal progesterone can prevent thickening of the endometrium in the follicular phase. [em-consulte.com]

Prenatal diagnosis is possible through molecular analysis of fetal DNA and allows treatment to be established for preventing virilization in affected females. [medicbind.com]

We speculate that p.364–372 del could decrease or abolish CYP11B1 activity by preventing the formation of the K-helix, which in turn would affect the tertiary structure of the protein. [bmcendocrdisord.biomedcentral.com]