Biomaterial Database

[Cytogenetics in differential diagnosis in gynecology]. 1971

R Tachezy, and E Kucera

UI	MeSH Term	Description	Entries
D003582	Cytogenetics	A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.	Cytogenetic
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260	Female		Females
D005831	Genital Diseases, Female	Pathological processes involving the female reproductive tract (GENITALIA, FEMALE).	Gynecologic Diseases,Female Genital Diseases,Diseases, Female Genital,Diseases, Gynecologic,Female Genital Disease,Genital Disease, Female,Gynecologic Disease
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000568	Amenorrhea	Absence of menstruation.	Postpartum Amenorrhea,Amenorrhea, Postpartum,Postpartum Amenorrheas
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
D013734	Androgen-Insensitivity Syndrome	A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.	Testicular Feminization,AR Deficiency,Androgen Insensitivity Syndrome,Androgen Insensitivity, Partial,Androgen Receptor Deficiency,Androgen Resistance Syndrome,Androgen-Insensitivity Syndrome, Complete,Androgen-Insensitivity Syndrome, Partial,DHTR Deficiency,Dihydrotestosterone Receptor Deficiency,Male Pseudohermaphroditism Due to Androgen Insensitivity,Reifenstein Syndrome,Reifenstein's Syndrome,Testicular Feminization Syndrome,AR Deficiencies,Androgen Insensitivities, Partial,Androgen Insensitivity Syndrome, Complete,Androgen Insensitivity Syndrome, Partial,Androgen Insensitivity Syndromes,Androgen Receptor Deficiencies,Androgen Resistance Syndromes,Androgen-Insensitivity Syndromes,Androgen-Insensitivity Syndromes, Complete,Androgen-Insensitivity Syndromes, Partial,Complete Androgen-Insensitivity Syndrome,Complete Androgen-Insensitivity Syndromes,DHTR Deficiencies,Deficiencies, AR,Deficiencies, Androgen Receptor,Deficiencies, DHTR,Deficiencies, Dihydrotestosterone Receptor,Deficiency, AR,Deficiency, Androgen Receptor,Deficiency, DHTR,Deficiency, Dihydrotestosterone Receptor,Dihydrotestosterone Receptor Deficiencies,Feminization Syndrome, Testicular,Feminization Syndromes, Testicular,Feminization, Testicular,Feminizations, Testicular,Insensitivities, Partial Androgen,Insensitivity Syndrome, Androgen,Insensitivity Syndromes, Androgen,Insensitivity, Partial Androgen,Partial Androgen Insensitivities,Partial Androgen Insensitivity,Partial Androgen-Insensitivity Syndrome,Partial Androgen-Insensitivity Syndromes,Receptor Deficiencies, Androgen,Receptor Deficiencies, Dihydrotestosterone,Receptor Deficiency, Androgen,Receptor Deficiency, Dihydrotestosterone,Reifensteins Syndrome,Resistance Syndrome, Androgen,Resistance Syndromes, Androgen,Testicular Feminization Syndromes,Testicular Feminizations
D014424	Turner Syndrome	A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.	Bonnevie-Ullrich Syndrome,Gonadal Dysgenesis, 45,X,Gonadal Dysgenesis, XO,Monosomy X,Status Bonnevie-Ullrich,Turner's Syndrome,Ullrich-Turner Syndrome,Bonnevie Ullrich Syndrome,Status Bonnevie Ullrich,Syndrome, Ullrich-Turner,Turners Syndrome,Ullrich Turner Syndrome,XO Gonadal Dysgenesis