Inborn errors of steroid metabolism
An inborn error of steroid metabolism is an inborn error of metabolism due to defects in steroid metabolism.[citation needed] A ... Inborn error of metabolism Disorders of sex development Congenital adrenal hyperplasia Adrenal insufficiency Hypogonadism ( ... Cholesterol and steroid metabolism disorders, Endocrine gonad disorders, Genetic diseases and disorders, Rare diseases, ... Sex steroid (androgen, estrogen, and progestogen) Neuroactive steroid Hypothalamus and pituitary gland Adrenal cortex and gonad ...
Hirsutism
Inborn errors of steroid metabolism such as in congenital adrenal hyperplasia, most commonly caused by 21-hydroxylase ... 86-. ISBN 978-0-7817-2761-7. Kenneth L. Becker (2001). Principles and Practice of Endocrinology and Metabolism. Lippincott ... Minoxidil Androgens like testosterone, anabolic steroids, and androgenic progestins Valproic acid and methyldopa Pregnancy: Due ... "Sex steroids in androgen-secreting adrenocortical tumors: clinical and hormonal features in comparison with non-tumoral causes ...
Glucocorticoid remediable aldosteronism
Inborn errors of steroid metabolism Hyperaldosteronism Pseudohyperaldosteronism Apparent mineralocorticoid excess syndrome ... The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and other steroids. Aldosterone synthase is found ... This increases the volume of fluid in the body and drives up blood pressure.[citation needed] Steroid hormones are synthesized ... Metabolism. 84 (12): 4341-4344. doi:10.1210/jcem.84.12.6256. PMID 10599685. Dluhy RG, Lifton RP (1 December 1999). " ...
Aromatase excess syndrome
... deficiency Disorders of sex development Estrogen insensitivity syndrome Hyperestrogenism Inborn errors of steroid metabolism ... Cholesterol and steroid metabolism disorders, Endocrine gonad disorders, Estrogens, Rare genetic syndromes, Syndromes affecting ... Metabolism. 88 (7): 3027-3034. doi:10.1210/jc.2002-021780. ISSN 0021-972X. PMID 12843139. Stratakis CA, Vottero A, Brodie A, et ... Metabolism. 9 (4): 397-409. doi:10.1586/17446651.2014.926810. ISSN 1744-6651. PMC 4162655. PMID 25264451. Martin, Regina M.; ...
Apparent mineralocorticoid excess syndrome
Cessation of licorice consumption will reverse this form of AME.[citation needed] Inborn errors of steroid metabolism 11β- ... Cholesterol and steroid metabolism disorders, Genetic syndromes, Rare syndromes). ... Metabolism Case Reports. 2019. doi:10.1530/EDM-18-0164. PMC 6499913. PMID 31051469. Gupta, Saurabh; Melendez, Jose; Khanna, ... which is involved in the peripheral metabolism of cortisol. In 1999, B. Scott Nunez; another US professor, summarized the AME ...
Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
Inborn errors of steroid metabolism Adrenal insufficiency Disorders of sexual development Intersexuality, pseudohermaphroditism ... Measurement of the other affected steroids distinguishes the two. Second, 3β-HSD I can convert enough DHEA to testosterone to ... 3β-HSD II mediates three parallel dehydrogenase/isomerase reactions in the adrenals that convert Δ4 to Δ5 steroids: ... The diagnosis is usually confirmed by the distinctive pattern of adrenal steroids: elevated pregnenolone, 17α- ...
Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency
Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... All of the forms of CAH involve excessive or defective production of sex steroids and can prevent or impair development of ... Because the enzyme defect does not affect sex steroid synthesis, gonadal function at puberty and long-term fertility should be ... Although "nonclassic" forms causing hirsutism and menstrual irregularities and appropriate steroid elevations have been ...
17β-Hydroxysteroid dehydrogenase III deficiency
Inborn errors of steroid metabolism Disorders of sexual development Intersex 17β-Hydroxysteroid dehydrogenase 17β- ... Cholesterol and steroid metabolism disorders, Endocrine gonad disorders, Intersex variations). ... The Journal of Steroid Biochemistry and Molecular Biology. 165 (Pt A): 79-85. doi:10.1016/j.jsbmb.2016.05.002. PMID 27163392. ...
5α-Reductase 2 deficiency
... and ambiguous genitalia Inborn errors of steroid metabolism 5α-Reductase (I, II) Androgen (testosterone and dihydrotestosterone ... Cholesterol and steroid metabolism disorders, Endocrine gonad disorders, Intersex variations). ... "Steroid 5α-reductase 2 deficiency". The Journal of Steroid Biochemistry and Molecular Biology. 163: 206-211. doi:10.1016/j. ... 5αR2D can also be indicated by low ratios of 5α- to 5ß- reduced steroids, as measured in urine measured via gas chromatography- ...
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... Steroids. 77 (4): 342-6. doi:10.1016/j.steroids.2011.12.009. PMC 3638754. PMID 22186144. Feingold, K. R.; et al. (2000). ... 17α-OHP steroid precursors and their sulphated conjugates which are present in the first two days after birth in healthy ... This marker did not gain acceptance as of 2020 due to the fact that the test for the levels of this steroid is not routinely ...
Follicle-stimulating hormone insensitivity
Gonadotropin-releasing hormone insensitivity Inborn errors of steroid metabolism Isolated 17,20-lyase deficiency Combined 17α- ... The condition manifests itself as hypergonadotropic hypogonadism (decreased or lack of production of sex steroids by the gonads ... The Journal of Clinical Endocrinology and Metabolism. 93 (5): 1827-33. doi:10.1210/jc.2007-2664. PMC 2386684. PMID 18285408. ...
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency
Cytochrome b5 deficiency Inborn errors of steroid metabolism Congenital adrenal hyperplasia Isolated 17,20-lyase deficiency ... Cholesterol and steroid metabolism disorders, Congenital disorders of endocrine system, Endocrine-related cutaneous conditions ... In these people the defect had the effect of an isolated impairment of sex steroid (e.g., DHEA in the adrenal, but also gonadal ... The sex steroid deficiency produces effects similar to 17α-hydroxylase deficiency. Severely affected genetic females (XX) are ...
Familial male-limited precocious puberty
... and precocious puberty Inborn errors of steroid metabolism Leydig cell hypoplasia (or LH insensitivity) Online Mendelian ...
Gonadotropin-releasing hormone insensitivity
... replacement therapy GnRH and gonadotropins Hypogonadotropic hypogonadism Hypopituitarism Inborn errors of steroid metabolism ... CS1 errors: periodical ignored, Articles with short description, Short description matches Wikidata, All articles with ... anabolic steroids The genetic mechanisms of gonadotropin-releasing hormone (GnRH) insensitivity involve mutations in at least ... The demonstration of prepubertal serum concentrations of sex steroid hormones (serum testosterone less than 100 ng/dL [3.5 nmol ...
List of MeSH codes (C18)
... steroid metabolism, inborn errors MeSH C18.452.648.925.249 - adrenal hyperplasia, congenital MeSH C18.452.648.925.500 - ... amino acid metabolism, inborn errors MeSH C18.452.648.066.102 - albinism MeSH C18.452.648.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C18.452.648.798.368 - gout MeSH C18.452.648.798.368.410 - arthritis, gouty ... fructose metabolism, inborn errors MeSH C18.452.648.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C18.452.648.202. ...
List of MeSH codes (C16)
... steroid metabolism, inborn errors MeSH C16.320.565.925.249 - adrenal hyperplasia, congenital MeSH C16.320.565.925.500 - ... amino acid metabolism, inborn errors MeSH C16.320.565.066.102 - albinism MeSH C16.320.565.066.102.090 - albinism, ocular MeSH ... purine-pyrimidine metabolism, inborn errors MeSH C16.320.565.798.368 - gout MeSH C16.320.565.798.368.410 - arthritis, gouty ... fructose metabolism, inborn errors MeSH C16.320.565.202.251.221 - fructose-1,6-diphosphatase deficiency MeSH C16.320.565.202. ...
Leydig cell hypoplasia
Follicle-stimulating hormone insensitivity Gonadotropin-releasing hormone insensitivity Inborn errors of steroid metabolism ... Inborn Errors of Metabolism and Newborn Screening: An Update. Elsevier Health Sciences. p. 407. ISBN 978-0-323-35685-5. ( ... Clinical Endocrinology & Metabolism. 24 (2): 243-62. doi:10.1016/j.beem.2009.11.003. PMID 20541150. Latronico AC, Arnhold IJ ( ... decreased or lack of production of sex steroids by the gonads despite high circulating levels of gonadotropins), reduced or ...
Isolated 17,20-lyase deficiency
Cytochrome b5 deficiency Inborn errors of steroid metabolism Disorders of sexual development Intersexuality, ... J. I. Mason (23 May 2002). Genetics of Steroid Biosynthesis and Function. CRC Press. p. 278. ISBN 978-0-415-27878-2. Retrieved ... The Journal of Clinical Endocrinology and Metabolism. 87 (12): 5714-5721. doi:10.1210/jc.2001-011880. ISSN 0021-972X. PMID ... The Journal of Clinical Endocrinology and Metabolism. 97 (1): 59-67. doi:10.1210/jc.2011-2161. PMC 3251937. PMID 22072737. ...
Lipoid congenital adrenal hyperplasia
Inborn errors of steroid metabolism Congenital adrenal hyperplasia Adrenal insufficiency Disorders of sexual development ... "Incidence of Inborn Errors of Metabolism by Expanded Newborn Screening in a Mexican Hospital". Journal of Inborn Errors of ... The placenta also makes steroid to help maintain pregnancy. However, since StAR is not required for placental steroid ... Cholesterol and steroid metabolism disorders, Endocrine gonad disorders, Estrogens, Rare diseases, Intersex variations). ...
Hypoestrogenism
Other causes include certain medications, gonadotropin insensitivity, inborn errors of steroid metabolism (for example, ... June 2015). "Measuring Estrogen Exposure and Metabolism: Workshop Recommendations on Clinical Issues". The Journal of Clinical ... "Sexual steroids in urogynecology". Climacteric. 14 (1): 5-14. doi:10.3109/13697137.2010.508542. PMID 20839956. S2CID 32209654. ... Endocrinology and Metabolism. 100 (6): 2165-70. doi:10.1210/jc.2015-1040. PMC 5393513. PMID 25850026. Shufelt CL, Torbati T, ...
Inborn errors of metabolism
Disorders of steroid metabolism lipoid congenital adrenal hyperplasia congenital adrenal hyperplasia Disorders of mitochondrial ... Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The ... Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic disorders. To ... Finally, inborn errors of metabolism were studied for the first time by British physician Archibald Garrod (1857-1936), in 1908 ...
Lipid metabolism
... including inborn errors of lipid metabolism) are illnesses where trouble occurs in breaking down or synthesizing fats (or fat- ... Steroid - see also steroidogenesis: Steroids are one of the important cell signaling molecules. Triacylglycerols (fats) - see ... Since lipids are hydrophobic molecules, they need to be solubilized before their metabolism can begin. Lipid metabolism often ... Lipid metabolism is the synthesis and degradation of lipids in cells, involving the breakdown and storage of fats for energy ...
Steroidogenic enzyme
... steroid synthesis, neurosteroid metabolism Others Aromatase (estrogen synthetase) - estrogen synthesis Inborn errors of steroid ... steroid synthesis Steroid sulfotransferase (SULT1A1, 1E1, 2A1, 2B1a, 2B1b) - steroid metabolism, neurosteroid synthesis Steroid ... progestogen synthesis and metabolism 20β-Hydroxysteroid dehydrogenase - progestogen synthesis and metabolism Steroid reductases ... cite book}}: ,journal= ignored (help) Honour JW (2009). "Diagnosis of diseases of steroid hormone production, metabolism and ...
Lathosterolosis
... is an inborn error of cholesterol biosynthesis caused by a deficiency of the enzyme 3-beta-hydroxysteroid-delta ... Cholesterol and steroid metabolism disorders, All stub articles, Endocrine, nutritional and metabolic disease stubs). ... July 2003). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase ...
Gout
Inborn errors of purine-pyrimidine metabolism, Inflammatory polyarthropathies, Rheumatology, Wikipedia medicine articles ready ... Skin conditions resulting from errors in metabolism, Steroid-responsive inflammatory conditions, Uric acid, Crystal deposition ... Steroids or NSAIDs? Let this overview from the Cochrane Group help you decide what's best for your patient". J Fam Pract. 58 (7 ... Halabe A, Sperling O (1994). "Uric acid nephrolithiasis". Mineral and Electrolyte Metabolism. 20 (6): 424-431. PMID 7783706. " ...
CYP7B1
"Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe ... Kim SB, Chalbot S, Pompon D, Jo DH, Morfin R (2005). "The human cytochrome P4507B1: catalytic activity studies". J. Steroid ... The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of ... 25-hydroxycholesterol 7-alpha-hydroxylase also known as oxysterol and steroid 7-alpha-hydroxylase is an enzyme that in humans ...
C-5 sterol desaturase
2003). "Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency ... Steroids. 77 (13): 1313-1320. doi:10.1016/j.steroids.2012.08.015. PMC 3501532. PMID 22982564. Silvestro Daniele; Andersen Tonni ... Grube; Schaller Hubert; Jensen Poul Erik (2013). "Plant sterol metabolism. Delta 7-Sterol-C5-desaturase (STE1/DWARF7), Delta 5 ... Cholesterol serves multiple roles in the cell including modulating membrane fluidity serving as a precursor to steroid hormones ...
Kidney transplantation
... and a number of inborn errors of metabolism. The commonest 'cause' is idiopathic (i.e. unknown). Diabetes is the most common ... Thus, other, non-steroid immunosuppressive agents are needed, which also allow lower doses of prednisolone. These include: ... Haller, Maria C.; Royuela, Ana; Nagler, Evi V.; Pascual, Julio; Webster, Angela C. (22 August 2016). "Steroid avoidance or ...
Aldosterone synthase
"Inborn errors of aldosterone biosynthesis in humans". Steroids. 60 (1): 15-21. doi:10.1016/0039-128X(94)00023-6. PMID 7792802. ... van Rooyen D, Gent R, Barnard L, Swart AC (April 2018). "The in vitro metabolism of 11β-hydroxyprogesterone and 11- ... steroids, and other lipids. Aldosterone synthase is the enzyme that has steroid 18-hydroxylase activity as well as steroid 11 ... February 1992). "Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and ...
Thiolase
... is an inborn error of metabolism involving isoleucine catabolism and ketone body metabolism. The major clinical manifestations ... Thiolase is of central importance in key enzymatic pathways such as fatty-acid, steroid and polyketide synthesis. The detailed ... Mitchell GA, Fukao T (2001). "Inborn errors of ketone body metabolism". In Scriver CR, Beaudet AL, Sly WS, Valle D (eds.). The ... Hovik R, Brodal B, Bartlett K, Osmundsen H (June 1991). "Metabolism of acetyl-CoA by isolated peroxisomal fractions: formation ...
Mevalonate kinase deficiency
Classified as an inborn error of metabolism, mevalonate kinase deficiency usually results in developmental delay, hypotonia, ... Cholesterol and steroid metabolism disorders, Neurological disorders, Autosomal recessive disorders). ... an inborn error of metabolism now seen as a severe form of HIDS. It is not known how mevalonate kinase mutations cause the ... Berger R, Smit GP, Schierbeek H, Bijsterveld K, le Coultre R (Oct 1985). "Mevalonic aciduria: an inborn error of cholesterol ...