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]

• Failure to Thrive in Infancy

  Past medical history was notable for failure to thrive in infancy. [genome.jp]

• 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]

• Anemia

  DHS patients typically exhibit mild to moderate compensated hemolytic anemia, with an increased erythrocyte mean corpuscular hemoglobin concentration and a decreased osmotic fragility, both of which reflect cellular dehydration (summary by Zarychanski [mendelian.co]

  The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as … Menkes Disease July 9, 2018 by Peter [checkrare.com]

• 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]

• Pneumonia

  Recurrent infections Hypopituitarism Pituitary dwarfism Panhypopituitarism Amniotic constriction ring Lactic acidosis Hemianopia Colpocephaly Cavum septum pellucidum Anterior pituitary hypoplasia Ectopic posterior pituitary Pneumonia Optic disc hypoplasia [mendelian.co]

• 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]

• Polydipsia

  Learn more Other less relevant matches: Medium match NEPHROGENIC DIABETES INSIPIDUS Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth [mendelian.co]

• Jaundice

  Chronic otitis media Abnormality of mitochondrial metabolism Hepatomegaly Splenomegaly Pallor Growth delay Hepatitis Hyperbilirubinemia Reticulocytosis Intermittent jaundice Stomatocytosis Increased intracellular sodium Cough Abdominal pain Hemolytic [mendelian.co]

• Hepatomegaly

  Dicarboxylic aciduria, hepatomegaly, and hyperammonemia may also be observed. [mendelian.co]

• 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]

• Skin Ulcer

  ulcer Lymphopenia Leukopenia Combined immunodeficiency Severe combined immunodeficiency Nephrotic syndrome Hypoplasia of the thymus Cellular immunodeficiency Abnormality of neutrophils Granulocytopenia Impaired T cell function Aplasia of the thymus Weight [mendelian.co]

• Tremor

  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]

  In some cases, people with TH-deficient DRD have additional movement problems such as shaking when holding a position (postural tremor) or involuntary upward-rolling movements of the eyes. [ghr.nlm.nih.gov]

• Apathy

  Like her sister, she suffered from adrenal crises with apathy, vomiting, and hypoglycemia, which were treated by her parents with immediate intramuscular injections of HC. [frontiersin.org]

• Somnolence

  Anorexia Splenomegaly Recurrent hypoglycemia Increased level of hippuric acid in urine 3-Methylglutaric aciduria Nonketotic hypoglycemia Glutaric aciduria Acute pancreatitis Ketotic hypoglycemia Organic aciduria Decreased plasma carnitine Excessive daytime somnolence [mendelian.co]

• Ketonuria

  INSIPIDUS, NEPHROGENIC, X-LINKED Medium match 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency is a rare autosomal recessive disorder with the cardinal manifestations of metabolic acidosis without ketonuria [mendelian.co]

• Aldosterone Decreased

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

• Howell-Jolly Bodies

  Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings. [mendelian.co]

• Hepatocellular Carcinoma

  Approximately one third of all cases of cirrhosis and half of all cases of hepatocellular carcinoma ( HCC ) can be attributed to chronic HBV infection. [mendelian.co]

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]