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pregnenolone and Metabolism, Inborn Errors

pregnenolone has been researched along with Metabolism, Inborn Errors in 15 studies

Research

Studies (15)

TimeframeStudies, this research(%)All Research%
pre-199015 (100.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
BIRCHALL, K; CATHRO, DM; FORSYTH, CC; MITCHELL, FL1
EBERLEIN, WR1
Ballesta, F; Corretger, JM; Cruz, M; Hierro, FR; Orús, A1
Rappaport, R1
Emerson, K; Rose, LI; Villee, DB; Williams, GH1
Green, OC; Kenny, FM; Reynolds, JW1
Laatikainen, T; Makino, I; Perheentupa, J; Sjövall, J; Vihko, R1
Brough, AJ; Camacho, AM; Kowarski, A; Migeon, CJ1
Bardin, CW; Schneider, G1
Neuendorf, W1
Zurbrügg, RP1
Boon, H; Degenhart, HJ; O'Doherty, NJ; Visser, HK1
Jänne, O; Perheentupa, J; Vihko, R; Viinikka, L1
Cohen, RB; Kliman, B; Neeman, J; Weinstein, RL1
Oshima, H1

Reviews

2 review(s) available for pregnenolone and Metabolism, Inborn Errors

ArticleYear
Inborn errors in testosterone biosynthesis with special reference to 17-oxosteroid reductase deficiency (1-6).
    Helvetica paediatrica acta, 1974, Volume: Suppl 34

    Topics: Adolescent; Androgens; Androstenedione; Child; Child, Preschool; Diagnosis, Differential; Disorders of Sex Development; Female; Humans; Isomerases; Karyotyping; Lyases; Male; Metabolism, Inborn Errors; Oxidoreductases; Pedigree; Phenotype; Pregnenolone; Sex Chromosome Aberrations; Sex Differentiation; Testosterone

1974
[Congenital adrenal hyperplasia with special reference to salt-losing syndrome].
    Nihon rinsho. Japanese journal of clinical medicine, 1971, Volume: 29, Issue:3

    Topics: Adrenal Cortex Hormones; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocortical Hyperfunction; Cholesterol; Humans; Hydroxysteroid Dehydrogenases; Hyponatremia; Metabolism, Inborn Errors; Mixed Function Oxygenases; Natriuresis; Pregnenolone

1971

Other Studies

13 other study(ies) available for pregnenolone and Metabolism, Inborn Errors

ArticleYear
3BETA: 21-DIHYDROXYPREGN-5-ENE-20-ONE IN URINE OF NORMAL NEWBORN INFANTS AND IN THIRD DAY URINE OF CHILD WITH DEFICIENCY OF 3BETA-HYDROXYSTEROID-DEHYDROGENASE.
    Archives of disease in childhood, 1965, Volume: 40

    Topics: 17-alpha-Hydroxypregnenolone; 17-Hydroxysteroid Dehydrogenases; Adrenal Cortex Hormones; Female; Humans; Hydroxysteroid Dehydrogenases; Hydroxysteroids; Infant, Newborn; Infant, Premature; Metabolism; Metabolism, Inborn Errors; Pregnancy; Pregnancy in Diabetics; Pregnenolone; Urine

1965
STEROIDS AND STEROLS IN UMBILICAL CORD BLOOD.
    The Journal of clinical endocrinology and metabolism, 1965, Volume: 25

    Topics: Adrenal Glands; Blood; Cholesterol; Chromatography; Dehydroepiandrosterone; Endocrinology; Fetal Blood; Fetus; Humans; Hydrocortisone; Hydroxysteroid Dehydrogenases; Metabolism, Inborn Errors; Pregnenolone; Steroids; Sterols; Umbilical Cord

1965
[Male pseudohermaphroditism due to deficit in the conversion of cholesterol to delta5 pregnenolone (author's transl)].
    Anales espanoles de pediatria, 1979, Volume: 12, Issue:4

    Topics: 3-Hydroxysteroid Dehydrogenases; Adrenal Hyperplasia, Congenital; Cholesterol; Disorders of Sex Development; Humans; Infant; Male; Metabolism, Inborn Errors; Pregnenolone

1979
[Meaning of the foeto-placental unit in the steroid metabolism].
    Annales de pediatrie, 1969, Jan-02, Volume: 16, Issue:1

    Topics: Adrenal Insufficiency; Androgens; Anencephaly; Dehydroepiandrosterone; Disorders of Sex Development; Embryonic and Fetal Development; Enzyme Repression; Estradiol; Estriol; Estrogens; Female; Fetus; Humans; Lyases; Metabolism, Inborn Errors; Placenta; Pregnancy; Pregnanediol; Pregnenolone; Sex Determination Analysis; Steroids; Sulfatases

1969
Steroidal and gonadotropin evaluation of a patient with a feminizing tumor of the adrenal gland. In vivo and in vitro studies.
    The Journal of clinical endocrinology and metabolism, 1969, Volume: 29, Issue:12

    Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Gland Neoplasms; Adrenalectomy; Chromatography; Dehydroepiandrosterone; Desoxycorticosterone; Dexamethasone; Estradiol; Estriol; Estrogens; Feminization; Follicle Stimulating Hormone; Gonadotropins; Humans; Hydrocortisone; In Vitro Techniques; Luteinizing Hormone; Male; Metabolism, Inborn Errors; Middle Aged; Mixed Function Oxygenases; Nephrectomy; Prednisone; Pregnenolone; Radioimmunoassay; Sex Characteristics; Tritium

1969
Partial 3 -hydroxysteroid dehydrogenase (3 -HSD) deficiency in a family with congenital adrenal hyperplasia: evidence for increasing 3 -HSD activity with age.
    Pediatrics, 1971, Volume: 48, Issue:5

    Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Gland Diseases; Aging; Aldosterone; Androstanes; Androsterone; Child; Child, Preschool; Chlorides; Chromatography, Gas; Chromatography, Thin Layer; Dehydroepiandrosterone; Disorders of Sex Development; Etiocholanolone; Female; Glucuronates; Humans; Hydrocortisone; Hydroxysteroid Dehydrogenases; Hyperkalemia; Hyperplasia; Hyponatremia; Infant; Infant, Newborn; Male; Metabolism, Inborn Errors; Potassium; Pregnanetriol; Pregnenolone; Sodium; Sulfates; Testosterone

1971
Bile acids and hormonal steroids in bile of a boy with 3 -hyseoxysteroid dehydrogenase deficiency.
    Journal of steroid biochemistry, 1972, Volume: 3, Issue:4

    Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Androstanes; Androstenes; Androsterone; Animals; Bile; Bile Acids and Salts; Child; Chromatography, Gas; Chromatography, Thin Layer; Dehydroepiandrosterone; Glucuronates; Humans; Hydroxysteroid Dehydrogenases; Hydroxysteroids; Ketosteroids; Liver; Male; Mass Spectrometry; Metabolism, Inborn Errors; Pregnanes; Pregnenes; Pregnenolone; Sulfuric Acids

1972
Congenital adrenal hyperplasia due to a deficiency of one of the enzymes involved in the biosynthesis of pregnenolone.
    The Journal of clinical endocrinology and metabolism, 1968, Volume: 28, Issue:2

    Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Adrenal Glands; Adrenal Hyperplasia, Congenital; Adrenocorticotropic Hormone; Desoxycorticosterone; Disorders of Sex Development; Humans; Hydrocortisone; Hydroxysteroid Dehydrogenases; Hypokalemia; Hyponatremia; Infant; Male; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pregnanediol; Pregnanetriol; Pregnenolone; Secretory Rate; Urine; Water-Electrolyte Balance

1968
Defective testicular testosterone synthesis by the pseudohermaphrodite rat: an abnormality of 17 beta-hydroxysteroid dehydrogenase.
    Endocrinology, 1970, Volume: 87, Issue:5

    Topics: 17-Ketosteroids; Androstanes; Animals; Carbon Isotopes; Chromatography, Gas; Chromatography, Thin Layer; Cryptorchidism; Disorders of Sex Development; Estradiol; Estrone; Hydroxyprogesterones; Hydroxysteroid Dehydrogenases; Hyperplasia; In Vitro Techniques; Leydig Cells; Male; Metabolism, Inborn Errors; Pregnenolone; Radioisotope Dilution Technique; Rats; Rodent Diseases; Testis; Testosterone

1970
[Biosynthesis of steroid hormones and its disorders caused by enzymatic defects with special reference to the adrenogenital syndrome].
    Zeitschrift fur die gesamte innere Medizin und ihre Grenzgebiete, 1974, Mar-01, Volume: 29, Issue:5

    Topics: 17-Ketosteroids; Adrenal Hyperplasia, Congenital; Adult; Androgens; Biochemical Phenomena; Biochemistry; Female; Gonadal Steroid Hormones; Humans; Metabolism, Inborn Errors; Mixed Function Oxygenases; Prednisolone; Pregnenolone; Steroids

1974
Evidence for deficient 20 -cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia.
    Acta endocrinologica, 1972, Volume: 71, Issue:3

    Topics: Adrenal Cortex Hormones; Adrenal Gland Diseases; Adrenal Glands; Age Factors; Animals; Caproates; Cattle; Cholesterol; Culture Media; Culture Techniques; Humans; Hyperplasia; Infant; Infant, Newborn; Lipid Metabolism; Metabolism, Inborn Errors; Methods; Pregnenolone; Steroid Hydroxylases; Steroids; Time Factors

1972
Testicular endocrine function in a pubertal boy with 3beta-hydroxysteroid dehydrogenase deficiency.
    The Journal of clinical endocrinology and metabolism, 1974, Volume: 39, Issue:1

    Topics: Child; Dihydrotestosterone; Gonadotropins; Humans; Hydroxyprogesterones; Hydroxysteroid Dehydrogenases; Luteinizing Hormone; Male; Metabolism, Inborn Errors; Pregnenolone; Puberty; Testis; Testosterone

1974
Deficient 17-hydroxylation in a corticosterone producing adrenal tumor from an infant with hemihypertrophy and visceromegaly.
    The Journal of clinical endocrinology and metabolism, 1970, Volume: 30, Issue:4

    Topics: 17-Hydroxycorticosteroids; 17-Ketosteroids; Abnormalities, Multiple; Adrenal Gland Neoplasms; Adrenocortical Hyperfunction; Corticosterone; Desoxycorticosterone; Female; Growth Hormone; Humans; Hydrocortisone; Hydroxyprogesterones; Hyperplasia; Hypoglycemia; Infant; Islets of Langerhans; Kidney Diseases; Metabolism, Inborn Errors; Mixed Function Oxygenases; Pregnanediol; Pregnanetriol; Pregnenolone; Vanilmandelic Acid

1970