The rare variant of congenital adrenal hyperplasia (CAH) known as 17-hydroxylase deficiency was first described in the 1960s in patients with sexual infantilism and hypertension. It has also been described to present in the setting of male pseudohermaphroditism PubMed is a searchable database of medical literature and lists journal articles that discuss 17-alpha-hydroxylase deficiency. Click on the link to view a sample search on this topic. Selected Full-Text Journal Articles. Section on Endocrinology and Committee on Genetics.. The treatment of this disorder is centered on glucocorticoid and sex steroid replacement. In patients with 17α-hydroxylase deficiency who are being raised as females, estrogen should be supplemented, while genetically female patients with a uterus should also receive progesterone supplementation Like other forms of congenital adrenal hyperplasia, treatment of 17 alpha-hydroxylase deficiency consists of replacement doses of glucocorticoid hormones and supplemental estrogen therapy in the young adult patient
Morimoto I, Maeda R, Izumi M, et al. An autopsy case of 17 alpha-hydroxylase deficiency with malignant hypertension. J Clin Endocrinol Metab 1983; 56:915. Peter M, Sippell WG, Wernze H. Diagnosis and treatment of 17-hydroxylase deficiency. J Steroid Biochem Mol Biol 1993; 45:107. Tiosano D, Knopf C, Koren I, et al. Metabolic evidence for. Symptoms of 17 alpha-hydroxylase deficiency include delayed puberty and primary amenorrhea. Mutations in the CYP17 gene cause 17 alpha-hydroxylase deficiency. The most potent risk factor in the development of 17 alpha-hydroxylase deficiency is the presence of family history of 17 alpha-hydroxylase deficiency 17α-Hydroxylase deficiency is a recessively inherited autosomal disease caused by mutations in the CYP17A1 gene. It is a rare disease and accounts for approximately 1% of congenital adrenal cortex hyperplasias. Inhibition of 17α-hydroxylase causes low levels of cortisol and high levels of adrenocorticotropic hormone in the blood as well as excessive levels of mineralocorticoids that lead to.
21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones 17-alpha-Hydroxylase Deficiency (CYP17) Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). Most of these conditions involve excessive or. A 17 alpha-hydroxylase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH). In this article we discuss a case of 8-year-old girl presented with upper respiratory infection symptoms and a history of hospital admission of fatigue and dehydration. She was incidentally found to have hypertension and hypokalemia Like other forms of congenital adrenal hyperplasia, treatment of 17 alpha-hydroxylase deficiency consists of replacement doses of glucocorticoid hormones and supplemental estrogen therapy in the young adult patient. Heterozygotes may be detected by slightly exaggerated responses of some or all the ZF 17-deoxysteroids to ACTH stimulation, and by.
17-beta hydroxysteroid dehydrogenase 3 deficiency is a condition that affects male sexual development. People with this condition are genetically male, with one X and one Y chromosome in each cell, and they have male gonads ().Their bodies, however, do not produce enough of a male sex hormone (androgen) called testosterone . Small doses of dexamethasone or prednisolone decrease ACTH and subsequently the11-deoxycorticosterone level declines, which normalizes blood pressure and electrolyte imbalance
Congenital adrenal hyperplasia (CAH) resulting from 17-alpha hydroxylase deficiency (17OHD) is a rare autosomal recessive disorder with an estimated incidence of about 1:50.000- 1:100.00 in newborns (1). 17OHD accounts for approximately 1% of all forms of CAH. The classic syndrome caused by 17OHD is characterized by hypertension, hypokalemia. The most severe deficiency affects both steps (17α-hydroxylase and 17,20-lyase) of the enzyme's activity, whereas, in even the rarest cases of mild deficiency, 17α-hydroxylase activity can be preserved leading to isolated 17,20-lyase deficiency with only gonadal deficiency BACKGROUND: 17-alpha hydroxylase deficiency is the second most prevalent form of congenital adrenal hyperplasia in Brazil; its clinical hallmarks are mineralocorticoid hypertension (htn) and hypergonadotropic hypogonadism, usually diagnosed around puberty.AIM: 10y after reporting data from a Brazilian cohort of 24 patients (pts), we present follow-up (FU) data of 18 and add another 16 from 11. 17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone
Congenital Adrenal Hyperplasia, 17 alpha-hydroxylase is part of a larger group of disorders called Congenital Adrenal Hyperplasias. Congenital Adrenal Hyperplasias are disorders that are caused by a defect in the creation of steroid hormones in the adrenal cortex (part of the gland that sits on your kidneys) On the other hand, a 17-hydroxylase deficiency is a rare cause of CAH, accounting for approximately 1% of cases. This activity reviews the etiology, epidemiology, pathophysiology, evaluation, and treatment of 17-hydroxylase deficiency and explains the role of the interprofessional team in managing patients with this condition. Objectives Click to see full answer. In this regard, what is hydroxylase deficiency? 21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands.In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.There are three types of 21-hydroxylase deficiency.what is p450c17 enzyme deficiency A deficiency in both 17α-hydroxylase and 11β-hydroxylase tends to result in overproduction of mineralocorticoids like DOC and underproduction of aldosterone. 1 DOC: If the deficient enzyme starts with 1 (11β-, 17‑), there is increased DOC . Abdominal and pelvic ultrasound revealed no evidence of ureteral or ovarian tissues. Renal artery echo Doppler was within normal in both sides. Normal male karyotype (46,XY). Combination of hypokalemic hypertension, high aldosterone
Early detection and treatment can help children with CAH to have normal and healthy development. There are some other rare forms of CAH. These forms may go by other names, including: steroidogenic acute regulartory protein deficiency (STAR), 3-beta-hydroxysteroid dehydrogenase deficiency (3B-HSD), 17-alpha-hydroxylase deficiency, 11-beta. Cholesterol desmolase deficiency: Patients with this enzyme deficiency can barely produce any steroid hormone. They have enlarged lipid-filled adrenals, lack of ovarian function, and rarely survive to adulthood. 17-alpha-hydroxylase deficiency: This is a form of congenital adrenal hyperplasia This form of CAH results from deficiency of the enzyme 17α-hydroxylase (also called CYP17A1).It accounts for less than 5% of the cases of congenital adrenal hyperplasia and is inherited in an autosomal recessive manner with a reported incidence of about 1 in 1,000,000 births.. The most common abnormal alleles of this condition impair both the 17α-hydroxylase activity and the 17,20-lyase. VDDR I is caused by mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase ( CYP27B1; 609506) (12q13.1-q13.3), a renal proximal tubular enzyme that catalyses the hydroxylation and activation of 25-hydroxyvitamin D3 into the active hormone 1,25-dihydroxyvitamin D3. VDDR II is caused by mutation in the gene encoding the vitamin. Deficiency of testosterone due to a biosynthetic defect such as enzyme deficiencies like cholesterol desmolase (CYP11A1), 3 beta-hydroxysteroid dehydrogenase (HSD3B2), 17 alpha-hydroxylase (CYP17), P450 oxidoreductase (POR), among others can present with ambiguous genitalia or micropenis along with symptoms of adrenal insufficiency
Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene CYP17A1, which encodes for the enzyme 17α-hydroxylase. It causes decreased synthesis of cortisol and sex steroids, with resulting increase in mineralocorticoid production. Thus, common symptoms include mild hypocortisolism, ambiguous. Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency. Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. 1 More on Congenital adrenal hyperplasia due to 17-alpha.
17 alpha-hydroxylase/17,20-lyase deficiency - Genetics Home Reference 17 alpha-hydroxylase/17,20-lyase deficiency On this page: Descrip.. CYP17 15. The report provides comprehensive information on the Steroid 17 Alpha Hydroxylase/17,20 Lyase 17 Alpha Hydroxyprogesterone Aldolase or Cytochrome P450 17A1 or Cytochrome P450 C17 or Steroid 17 Alpha Monooxygenase or CYP17 or CYP17A1 or EC 22.214.171.124 or EC 126.96.36.199, targeted therapeutics, complete with analysis by indications, stage of development, mechanism of action MoA, route of. At least 14 cases of isolated 17,20 lyase deficiency have been reported in the presence of normal 17-alpha-hydroxylase activity. International A deficiency of 21-hydroxylase is by far the most common variant of CAH (95% of all cases), but the exact prevalence of 17-hydroxylase deficiency is unknown . An 8-month-old female presents with ambigous genitalia. Her urinary ketosteroids and 17-OH progesterone are twice the normal level. Additionally, testosterone levels are four times normal and urinary 17-hydroxycorticosteroids are decreased. Her brother had a similar disorder Undervirilization of newborn males can be seen in 3-beta-hydroxysteroid dehydrogenase deficiency and 17-alpha-hydroxylase deficiency. Epidemiology Screening studies indicate a worldwide incidence of classical 21-hydroxylase-deficient CAH as 1 in 13,000 to 1 in 54,000 live births. [ 2
With 3-beta-hydroxysteroid dehydrogenase deficiency, pregnenolone, 17-hydroxypregnenolone, and DHEA are typically elevated, and 17-OHP may be elevated. If they are measured, cortisol and aldosterone levels are likely to be low. With 17-alpha-hydroxylase deficiency, pregnenolone and progesterone may be elevated, along with 11-deoxycorticosterone. CAH is categorized as several closely related disorders, each caused by different enzyme abnormalities. In addition to 21-hydroxylase deficiency, which accounts for about 95% of cases, abnormalities in the following enzymes can also result in CAH: 11 beta- hydroxylase, 17 alpha- hydroxylase, 3 beta-hydroxysteroid dehydrogenase, and 20-22 demolase
17-Alpha hydroxylase deficiency: an unusual cause of secondary amenorrhoea. Aust N Z J Obstet Gynaecol. 2004; Steroid 17-alpha-Hydroxylase [blood] Treatment Outcome; 0 (Androgens) 9PHQ9Y1OLM (Prednisolone) EC 188.8.131.52 (Steroid 17-alpha-Hydroxylase). Steroid 21-monooxygenase deficiency, simple virilizing type; Undervirilized xy, 3-beta hydroxysteroid deficiency; Undervirilized xy, congenital adrenal hyperplasis, Clinical Information. A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells Congenital adrenal hyperplasia (CAH) is a group of inherited (genetic) conditions that can change the way your baby's body develops and responds to stress. Adrenal glands are small organs that produce hormones. These hormones help your body respond to illness, determine levels of salt and water in your body, and direct development of the genitals
Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency Is also known as adrenal hyperplasia v, 17-alpha-hydroxylase deficiency. Researches and researchers. Doctors, researchs, and experts related to Adrenal Hyperplasia, Congenital, Due To 17-alpha-hydroxylase Deficiency extracted from public data . Episodic and circadian ACTH secretion and the responses to ovine CRH and metyrapone were examined in a female with 17-OHDS under conditions of normal sodium (NSI) and low sodium (LSI) intake
17α-Hydroxylase deficiency (17OHD) is a rare autosomal recessive disorder caused by mutations in the CYP17A1 (cytochrome P450, family 17, subfamily A, polypeptide 1) gene with an estimated incidence of 1 in 50,000. 1 17OHD affects both adrenal and gonadal function, 2 resulting in disorders in the synthesis and secretion of corticosteroids, glucocorticoids, and sex hormones. 1,3 Genotypic boys. This subsequently leads to hypertension, hypokalemia, primary amenorrhea and sexual infantilism. Over 90 distinct genetic lesions have been identified in patients with this disorder. The prevalence of common mutation of CYP17A1 gene differs among ethnic groups. Treatment of this disorder involves replacement of glucocorticoids and sex steroids deficiency and 17α-hydroxylase deficiency are rare causes of CAH and the only forms leading to hypertension. Since the first description by Biglieri et al. 3, at least 124 cases of 17α-hydroxylase deficiency have been reported 1,4,5. Furthermore, 14 cases of 17,20-lyase deficiency with normal 17α-hydroxylase activity have been reported 1
Congenital Adrenal Hyperplasia, 17 alpha-hydroxylase is inherited in an autosomal recessive pattern. Autosomal means that both males and females can be affected with the condition. Recessive means that it takes two altered (non-working or mutated) genes for a child to be affected. Everyone has two Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency Disease definition A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension At the age of 23 years, she re-presented with tall stature and hypertension. She then had normal female habitus but absent pubic and axillary hair. Re-investigation showed that sex steroids and cortisol were absent and established the diagnosis as 17 alpha-hydroxylase deficiency. Treatment with hydrocortisone rapidly corrected the hypertension 17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adreno-corticotrophic hormone that stimulate the production of 11.
Abstract. Context: Vitamin D 1α-hydroxylase deficiency, also known as vitamin D-dependent rickets type 1, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia and is caused by mutations of the 25-hydroxyvitamin D 1α-hydroxylase (1α-hydroxylase, CYP27B1) gene.The human gene encoding the 1α-hydroxylase is 5 kb in length, located on chromosome 12. Adrenogenital Syndrome (Congenital Adrenal Hyperplasia) results in hyperplasia because there is an inability to produce the final adrenal end products (e.g. cortisol) so the pituitary stimulation is not shut off (e.g. ACTH) Please rate topic. (M1.EC.15.75) A 17-year-old girl is brought to the pediatrician by her father for evaluation Adrenal Cortex secretes mineralcorticoids (zona glomerulosa which lacks 17-alpha-Hydroxylase so cannot make costisol or testosterone but is the only layer with aldosterone synthase) , glucocorticoids & androgens (zona fasciculata and zona reticularis) Adrenal Medulla secretes epinephrine, NE, dopa & dopamine
Congenital adrenal hyperplasia (CAH) is the most frequently encountered genetic steroid disorder affecting fertility. Steroid hormones play a crucial role in sexual development and reproductive function; patients with either 21- hydroxylase or 11β-hydroxylase deficiency thus face immense challenges to their fertility. Given the relevance of CAH in reproductive medicine as well as the. A previous study in an untreated girl with 17 alpha-hydroxylase deficiency syndrome (17-OHDS) indicated that in the absence of cortisol production, ACTH and corticosterone (B) may interact to modulate the brain-pituitary-adrenocortical system. The ACTH-B interplay was further examined in this.. normal, but the response to ACTH stimulation was negligible (Table I). Her gonadotropin levels were high (LH, 3.1 mIU/ml; FSH, 43.5 mIU/ml). Pelvic ultrasonography and pelvi
Kater CE, Biglieri EG. Disorders of steroid 17 alpha-hydroxylase deficiency. Endocrinol Metab Clin North Am. 1994 Jun;23(2):341-57. PubMed I The existence of true isolated 17,20-lyase deficiency has been questioned because 17-alpha-hydroxylase and 17,20-lyase activities are catalyzed by a single enzyme, microsomal cytochrome P450c17, and because combined deficiencies of both activities were found in a patient thought to have had isolated 17,20-lyase deficiency.
The topic Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase you are seeking is a synonym, or alternative name, or is closely related to the medical condition Cytochrome P450 Oxidoreductase Deficiency Disorder. Quick Summary: Cytochrome P450 Oxidoreductase Deficiency Disorder is a rare genetic disorder 17 alpha hydroxylase deficiency generally presents in females with hypogonadism , hypotension and hypokalemia during puberty, however mild cases can present at a much later age. Aldosterone levels are not often elevated in patients with 17 alpha hydroxylase because of suppressed renin CAH due to 21-hydroxylase deficiency can be classified as either classical (simple virilising or salt-wasting types) or non-classical. Other rare enzyme deficiencies resulting in CAH include 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency, and 3-beta hydroxysteroid dehydrogenase deficiency Introduction: 17- α hydroxylase deficiency, an autosomal recessive disorder, is a rare cause of Congenital Adrenal Hyperplasia (CAH). The disease is usally diagnosed during infancy and childhood. We present here a rare case of an adult woman with 17-α hydroxylase deficiency diagnosed for first time in adulthood
If someone is diagnosed with 21-hydroxylase deficiency, treatment will involve replacement of the deficient cortisol with glucocorticoid treatment. A 17-OHP test may be used periodically to monitor the effectiveness of this treatment. A 17-OHP test may also sometimes be used, with other hormone tests, to help rule out CAH in people who have. The CAH by 17-alpha-hydroxylase deficiency is a very rare congenital form of Congenital adrenal hyperplasia as, congenital adrenal hyperplasia designated Type V. . Main features are glucocorticoid deficiency , hypergonadotropic hypogonadism, and pronounced hypokalemia with arterial hypertension.. Synonyms are: adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency; English. No Linkage between HLA and Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency Related Articles No extract is available for articles shorter than 400 words Steroid e.g. progesterone, 17alpha-methyltestosterone or testosterone was added as 100 mM stock solution in DMSO to cell By comparing the unknown product to in-house available hydroxyprogesterone standards 6-beta, 11-alpha, 16-alpha and 17-alpha...However, the hydroxylase specificity is shifted to the formation of an unknown hydroxy product. After roughly 4 hours, the. Treatment of CAH 1. PRESENTATION BY : DR MAHESH YADAV REFERENCE ( THE NEW ENGLAND JOURNAL OFMEDICINE 2. 21- HYDROXYLASE DEFECIENCY (>90%) • Classical - Salt Wasting Simple Virilizing • Non Classical OTHERS • 11 hydroxylase deficiency • 17 alpha hydroxylase deficiency • 3 hydroxysteroid dehydrogenase deficiency • Congenital lipoid adrenal hyperplasia • P450 oxidoreductase deficiency
In addition, treatment relies on estrogen and progesterone therapy to induce cyclic menstrual bleeding. Finally, a rare cause of primary amenorrhea with high FSH levels is 17 alpha hydroxylase deficiency - an adrenal enzyme P450 oxidoreductase and cytochrome b5. Mol Endocrinol 13(1): 167-175. 2. Kater CE, Biglieri EG (1994) Disorders of steroid 17 alpha-hydroxylase 16. Qiao J, Hu RM, Peng YD, Song HD, Peng YW, et al. (2003) A complex deficiency. Endocrinol Metab Clin North Am 23(2): 341-357 steroids and deficiency of downstream steroids1. 11-beta hydroxylase (CYP11B1) deficiency and 17-alpha hydroxylase (CYP17) deficiency are two forms of hypertensive CAH; the former causes virilization whereas the latter pubertal failure. 17-alpha hydroxylase deficiency (17-OHD) has an estimated incidence of about 1:50,00 Other suggested terms include '1-alpha-hydroxylase deficiency' (Wang et al., 1998) and 'selective 1-alpha, 25-hydroxyvitamin D3 deficiency' (Liberman and Marx, 2001). Animal Model Winkler et al. (1986) reported absence of renal 25-hydroxyvitamin D-1-hydroxylase activity in a pig strain with vitamin D-dependent rickets
CAH21 : The cause of congenital adrenal hyperplasia (CAH) is an inherited genetic defect that results in decreased formation of 1 of the many enzymes that are involved in the production of cortisol. The enzyme defect results in reduced glucocorticoids and mineralocorticoids, and elevated 17-hydroxyprogesterone (OHPG) and androgens. The resulting hormone imbalances can lead to life-threatening. It is a hydroxypregnenolone, a 3beta-hydroxy steroid, a 17alpha-hydroxy steroid, a 3beta-hydroxy-Delta (5)-steroid, a 17alpha-hydroxy-C21-steroid and a tertiary alpha-hydroxy ketone. A 21-carbon steroid that is converted from PREGNENOLONE by STEROID 17-ALPHA-HYDROXYLASE. It is an intermediate in the delta-5 pathway of biosynthesis of GONADAL. About 5% of CAH cases are not caused by 21-OH deficiency but other rare forms of CAH. Other causes of CAH may include Steroidogenic acute regulatory protein deficiency (STAR), 3-beta-hydroxysteroid dehydrogenase deficiency (3B-HSD), 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency, Cytochrome P450 oxidoreductase deficiency Congenital adrenal hyperplasia (CAH) resulting from steroid 11β-hydroxylase deficiency (11β-OHD) is caused by mutations in the CYP11B1 gene. It is the second major form of CAH associated with hypertension and hypopotassemia. The aim of this study was to provide a genetic analysis of 11β-OHD in a Chinese family. A 19-year-old Chinese man was clinically diagnosed with 11β-OHD
CAH Due to 21-Hydroxylase Deficiency Congenital adrenal hyperplasia, a common autosomal recessive disorder, is potentially life-threatening in its classic form and may be asymptomatic or cause. CAH due to 21-hydroxylase deficiency can be classified as either classical (simple virilizing or salt-wasting types) or nonclassical. Other rare enzyme deficiencies resulting in CAH include 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency, and 3-beta hydroxysteroid dehydrogenase deficiency The analysis of 17-hydroxyprogesterone (17-OHPG) is 1 of the 3 analytes along with cortisol and androstenedione, that constitutes the best screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency. Analysis for 17-OHPG is also useful as part of a battery of tests to evaluate females with. Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital adrenal hyperplasia resulting from a defect in the gene for the enzyme CYP17A1.. 17-alpha hydroxylase deficiency causes 1% of congenital adrenal hyperplasia. All patients have female external genitalia due to increased deoxycorticosterone and arterial hypertension
Deletions and mutations in the CYP21A2 gene account for all cases of the 21-hydroxylase deficiency form of CAH. Mutations in the CYP11B1, CYP17A1, HSD3B2, CYP11A1, STAR, and CYPOR genes are responsible, respectively, for 11-hydroxylase, 17-hydroxylase, 3-beta-hydroxysteroid dehydrogenase deficiencies, lipoid adrenal hyperplasia, and PORD, the other rarer forms of CAH Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by several distinct enzymatic defects that result in changes in steroidogenesis. These disruptions cause irregular genital and sexual characteristics, and interfere with electrolyte balance. Newborn screening detects elevations in 17-hydroxyprogesterone (17-OHP)
CYP17A1: A gene on chromosome 10q24.3 that encodes a member of the cytochrome P450 superfamily of enzymes, which catalyse reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP17A1 localises to the endoplasmic reticulum and has 17 alpha-hydroxylase and 17, 20-lyase activities; it is a key enzyme in. The quantitative ratios of various steroids in urine are measured to diagnose conditions such as 17-alpha-, 21-, and 11-beta hydroxylase deficiencies, pseudohypoaldosteronismus, 3-beta hydroxysteroid dehydrogenase deficiency, corticosterone methyl oxidase deficiency, 11-beta hydroxysteroid dehydrogenase types 1 and 2 deficiency, and 5-alpha. • * [[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency#17,20-Lyase deficiency|17,20 lyase deficiency]] Androgen insensitivity syndrome-Wikipedia Mutations in this gene are associated with rare forms of congenital adrenal hyperplasia, specifically 17α-hydroxylase deficiency/17,20-lyase deficiency and isolated 17,20-lyase. 21-hydroxylase deficiency is one of a group of disorders known as congenital adrenal hyperplasias that impair hormone production and disrupt sexual development. 21-hydroxylase deficiency is responsible for about 95 percent of all cases of congenital adrenal hyperplasia