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 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]

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]

They may present with hypertension. Clinical presentation in males 21-hydroxylase deficiency in males is generally not identified in the neonatal period because the genitalia are normal. [emedicine.medscape.com]

An unusual presentation of tyrosine hydroxylase deficiency [abstract]. Mov Disord. 2017; 32 (suppl 2). http://www.mdsabstracts.org/abstract/an-unusual-presentation-of-tyrosine-hydroxylase-deficiency/. [mdsabstracts.org]

• Infertility

  Also useful as part of a battery of tests to evaluate females with hirsutism or infertility, which can result from adult-onset CAH. [mayomedicallaboratories.com]

  In women it results primarily in excess growth of facial hair, decreased frequency or cessation of menstrual periods, and infertility. [britannica.com]

  Still milder deficiencies of 21-hydroxylase or 3-beta-hydroxysteroid dehydrogenase activity may present in adolescence or adulthood with oligomenorrhea, hirsutism, and/or infertility. [emedicine.medscape.com]

  INTRODUCTION Polycystic ovary syndrome (PCOS) is a common and complex endocrine disorder that affects 5 to 20% of reproductive age women, and it is a major cause of hirsutism and anovulatory infertility (1). [scielo.br]

  Men with CAH may present hypogonadism either through the effect of adrenal rests or from suppression of gonadotropins resulting in infertility. [em-consulte.com]

• Poor Feeding

  Infants with StAR deficiency (lipoid adrenal hyperplasia) usually have signs of adrenal insufficiency (eg, poor feeding, vomiting, dehydration, hypotension, hyponatremia, hyperkalemia). [emedicine.medscape.com]

  He had repeated vomiting with poor feeding and failure to thrive at 5 weeks of age. [bmcendocrdisord.biomedcentral.com]

• Inflammation

  View Article : Google Scholar : PubMed/NCBI 11 Brown NJ: Contribution of aldosterone to cardiovascular and renal inflammation and fibrosis. Nat Rev Nephrol. 9:459–469. 2013. [spandidos-publications.com]

  Studies involving more than 100 candidate genes, especially those related to reproductive axis, insulin resistance and chronic inflammation have not shown reproducible results (38,39). [scielo.br]

• Intermittent Fever

  Episodic fever Increased body temperature, episodic Intermittent fever [ more ] 0001954 Renal salt wasting Loss of salt in urine 0000127 Vomiting Throwing up 0002013 Showing of 14 | Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease [rarediseases.info.nih.gov]

• Failure to Thrive

  Failure to thrive MedGen UID: 115900 • Concept ID: C0231246 • Finding Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. [ncbi.nlm.nih.gov]

  DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED Is also known as ndi, diabetes insipidus, nephrogenic, type i Related symptoms: Intellectual disability Seizures Short stature Pica Failure to thrive SOURCES: MONDO UMLS OMIM More info about DIABETES INSIPIDUS [mendelian.co]

  […] to thrive ; Feeding difficulties in infancy ; Growth delay ; Hyperkalemia ; Hyponatremia ; Hypotension ; Increased circulating renin level ; Neonatal onset ; Renal salt wasting ; Vomiting Associated Genes CYP11B2 (Withdrawn symbols: ALDOS, CPN2, CYP11B [mousephenotype.org]

• Diarrhea

  It is usually caused by severe diarrhea, vomiting or diaphoresis. Hyperkalemia MedGen UID: 5691 • Concept ID: C0020461 • Finding Abnormally high potassium concentration in the blood, most often due to defective renal excretion. [ncbi.nlm.nih.gov]

  If undiagnosed and untreated, this form can lead to life-threatening adrenal crisis, with vomiting, diarrhea, hypoglycemia, hypovolemia, and shock. [msdmanuals.com]

  […] stature Growth delay Heterogeneous Constipation Polyuria Nephrogenic diabetes insipidus Milia Megacystis Unexplained fevers Hypertonic dehydration Pain Abdominal pain Infantile onset Hypernatremia Feeding difficulties Episodic fever Diabetes insipidus Diarrhea [mendelian.co]

  During one of these crises at 18 months of age, after a short history of diarrhea and vomiting starting 2 days earlier, she was hospitalized in a soporific but only slightly dehydrated state. [frontiersin.org]

• Abdominal Pain

  Abdominal pain Infantile onset Hypernatremia Feeding difficulties Episodic fever Diabetes insipidus Diarrhea Membranous nephropathy Hydronephrosis X-linked recessive inheritance Pica Fulminant hepatitis Acute hepatitis Epigastric pain Dark urine Nephrotic [mendelian.co]

  This condition may present with chronic fatigue, muscle weakness, loss of appetite, weight loss or abdominal pain. [medicbind.com]

• Hypertension

  An aetiological role for deoxycorticosterone in certain forms of human hypertension appears likely. 11-deoxycorticosterone hypertension © 1976 The Biochemical Society and the Medical Research Society [clinsci.org]

  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]

  However, these patients develop hypertension, hypokalemic alkalosis, or both later in life. [emedicine.medscape.com]

  It is not yet known if abnormal regulation of CYP11B2 is responsible for any cases of essential hypertension. [nature.com]

• Hypotension

  Hypotension -Loss of Sodium + Increased Plasma Potassium -Fall in glucose due to glucocorticoid deficiency -High ACTH (From POMC), resulting in increased pigmentation -Eventual death due to severe hypotension What are the tests used to confirm Addison's [quizlet.com]

  Hypotension MedGen UID: 5715 • Concept ID: C0020649 • Finding Abnormally low BLOOD PRESSURE that can result in inadequate blood flow to the brain and other vital organs. [ncbi.nlm.nih.gov]

  Hypoglycemia and hypotension may, in part, be due to associated epinephrine synthesis in the adrenal medulla due to cortisol deficiency. [emedicine.medscape.com]

  Classification endocrine, genetic Phenotypes Autosomal recessive inheritance ; Decreased circulating aldosterone level ; Dehydration ; Episodic fever ; Failure to thrive ; Feeding difficulties in infancy ; Growth delay ; Hyperkalemia ; Hyponatremia ; Hypotension [mousephenotype.org]

  […] difficulties in infancy 0008872 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Hyperkalemia Elevated serum potassium levels 0002153 Hyponatremia Low blood sodium levels 0002902 Hypotension [rarediseases.info.nih.gov]

• Alopecia

  […] two donors, with incorporation of oxygen into one of them. 21-hydroxylase a partial deficiency of the enzyme, in Pomeranian dogs, is thought to cause a dermatosis; histopathological lesions are of cutaneous atrophy; clinical signs include bilateral alopecia [medical-dictionary.thefreedictionary.com]

• Visual Impairment

  Hydrops fetalis Brittle hair Pulmonary fibrosis Increased antibody level in blood Poikilocytosis Spherocytosis Agenesis of corpus callosum Sideroblastic anemia Congenital hemolytic anemia Increased red cell osmotic fragility Motor delay Cryptorchidism Visual [mendelian.co]

• Osteoporosis

  Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus. [books.google.de]

  Vitamin D deficiency syndrome is a condition in which a person is found to have less than 25 ng/mL of 25 (OH)D in their blood and also have two or more of the following health conditions: osteoporosis, heart disease, hypertension, autoimmune diseases, [mscrossroads.org]

  Bone mineral density Osteoporosis has been an understandable concern for adults with CAH who may receive or have received supraphysiological doses of glucocorticoids. [em-consulte.com]

  Vitamin D and osteoporosis. In: Vitamin D. Feldman D, Pike JW, Glorieux FH, ed. New York, Elsevier Press Inc. 2005:1101-1120. 30. Epstein S, Schneider AE. Drug and hormone effects on vitamin D metabolism. In: Vitamin D. [dr-gahlen.de]

• Severe Short Stature

  […] global developmental delay Hypoglycemia Cerebral palsy Polydactyly Abnormality of the genital system Short finger Precocious puberty Severe short stature Enuresis nocturna Talipes equinovarus Micropenis Anisocytosis Hepatic steatosis Nephropathy Hydrops [mendelian.co]

• Phenylketonuria

  Neurological deterioration in adult phenylketonuria. [ncbi.nlm.nih.gov]

  […] incidence increased individuals infants inheritance laboratory liver male mass screening Massachusetts mating mental retardation method migration MSUD neonatal newborn normal obtained offspring paper chromatography patients Pediatrics phenylalanine phenylketonuria [books.google.com]

  In the related enzyme phenylalanine hydroxylase, mutation of the corresponding amino acid (R270) is also associated with complete loss of enzyme activity and classical phenylketonuria.9 Although the family structure does not allow us to formally prove [nature.com]

  Phenylketonuria, the most common of the inherited diseases for which neonatal screening is mandated, occurs in approximately 1 in 15,000 births in white populations. [glowm.com]

• Hyponatremia

  Other findings Hyponatremia, hyperkalemia, and/or hypoglycemia suggests the possibility of adrenal insufficiency. [emedicine.medscape.com]

  Aldosterone deficiency can lead to salt wasting, hyponatremia, and hyperkalemia. Adrenal hormone synthesis. [msdmanuals.com]

  This imbalance leads to low levels of sodium and high levels of potassium in the blood (hyponatremia and hyperkalemia, respectively). [ghr.nlm.nih.gov]

  HYDROXYLASE DEFICIENCY Classification endocrine, genetic Phenotypes Autosomal recessive inheritance ; Decreased circulating aldosterone level ; Dehydration ; Episodic fever ; Failure to thrive ; Feeding difficulties in infancy ; Growth delay ; Hyperkalemia ; Hyponatremia [mousephenotype.org]

  Hyponatremia MedGen UID: 6984 • Concept ID: C0020625 • Finding An abnormally decreased sodium concentration in the blood. [ncbi.nlm.nih.gov]

• Aldosterone Decreased

  Biochemical studies showed decreased aldosterone, decreased 18-OHB, and increased plasma renin, consistent with 18-hydroxylase deficiency. [genome.jp]

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]

Some of these opinions may contain information about treatment or uses of drug products that have not been approved by the U.S. Food and Drug Administration. WebMD does not endorse any specific product, service, or treatment. [webmd.com]

Treatment, which is experimental, must begin in the first several weeks of gestation. Treatment of nonclassic 21-hydroxylase deficiency depends on symptoms. If asymptomatic, no treatment is required. [msdmanuals.com]

Thrice daily oral hydrocortisone is the preferred treatment for CAH world over. [1], [2] In the absence of clear supporting evidence or guidelines most institutions follow their own treatment regimens. [ijem.in]

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]