BIOMAT Database Logo BIOMAT Database Logo

[Two cases of karyotype 46 XY "female" 17-alpha-hydroxylase deficiency]. 1985

L S Liu, and L L Wang

UI MeSH Term Description Entries
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D003907 Dexamethasone An anti-inflammatory 9-fluoro-glucocorticoid. Hexadecadrol,Decaject,Decaject-L.A.,Decameth,Decaspray,Dexasone,Dexpak,Hexadrol,Maxidex,Methylfluorprednisolone,Millicorten,Oradexon,Decaject L.A.
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000312 Adrenal Hyperplasia, Congenital A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. Congenital Adrenal Hyperplasia,Hyperplasia, Congenital Adrenal,Adrenal Hyperplasias, Congenital,Congenital Adrenal Hyperplasias,Hyperplasias, Congenital Adrenal
D012734 Disorders of Sex Development In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included. Disorders of Sexual Development,Sex Development Disorders,Sex Differentiation Disorders,Ambiguous Genitalia,Genital Ambiguity,Hermaphroditism,Intersex Conditions,Intersexuality,Pseudohermaphroditism,Sexual Development Disorders,Sexual Differentiation Disorders,Ambiguities, Genital,Ambiguity, Genital,Condition, Intersex,Conditions, Intersex,Differentiation Disorder, Sex,Differentiation Disorder, Sexual,Differentiation Disorders, Sex,Differentiation Disorders, Sexual,Disorder, Sex Differentiation,Disorder, Sexual Differentiation,Disorders, Sex Differentiation,Disorders, Sexual Differentiation,Genital Ambiguities,Genitalia, Ambiguous,Intersex Condition,Intersexualities,Sex Development Disorder,Sex Differentiation Disorder,Sexual Development Disorder,Sexual Differentiation Disorder

Related Publications

L S Liu, and L L Wang
A case of 17 alpha-hydroxylase deficiency with chromosomal karyotype 46,XY and high plasma aldosterone concentration.
January 1991, International urology and nephrology,
L S Liu, and L L Wang
Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype.
May 2023, Endocrinology, diabetes & metabolism case reports,
L S Liu, and L L Wang
Female with 46, XY karyotype.
July 2017, Obstetrics & gynecology science,
L S Liu, and L L Wang
[17 beta-hydroxysteroid dehydrogenase defect: female phenotype with 46,XY karyotype].
April 1996, Orvosi hetilap,
L S Liu, and L L Wang
A rare cause of delayed puberty in two cases with 46,XX and 46,XY karyotype: 17 α-hydroxylase deficiency due to a novel variant in CYP17A1 gene.
August 2020, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology,
L S Liu, and L L Wang
Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency.
August 2009, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology,
L S Liu, and L L Wang
A healthy, female chimera with 46,XX/46,XY karyotype.
January 2009, Journal of pediatric endocrinology & metabolism : JPEM,
L S Liu, and L L Wang
[The male 46,XY karyotype in a female phenotype].
June 1985, Bratislavske lekarske listy,
L S Liu, and L L Wang
[Analysis of two cases of Turner syndrome with 45,X/46,XY karyotype].
October 2012, Nan fang yi ke da xue xue bao = Journal of Southern Medical University,
L S Liu, and L L Wang
Two Cases with 17-alpha Hydroxylase Deficiency Misdiagnosed as Primary Aldosteronism.
January 2023, Endocrine, metabolic & immune disorders drug targets,
Copied contents to your clipboard!