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Sex Chromosome Disorders of Sex Development
Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM.
Year introduced: 2011
46, XX Testicular Disorders of Sex Development
Congenital conditions in individuals in which male GONADS develop in a genetic female (female to male sex reversal).
Disorder of Sex Development, 46,XY
Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical.
Year introduced: 2019(2011)
Ovotesticular Disorders of Sex Development
Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism.
Year introduced: 2011 (2006)
Sexual Development
The processes of anatomical and physiological changes related to sexual or reproductive functions during the life span of a human or an animal, from FERTILIZATION to DEATH. These include SEX DETERMINATION PROCESSES; SEX DIFFERENTIATION; SEXUAL MATURATION; and changes during AGING.
Year introduced: 2005
Urogenital Abnormalities
Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
Year introduced: 1998
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.
Year introduced: 2011(1966)
Hypospadias
A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
Gonadal Dysgenesis
A number of syndromes with defective gonadal developments such as streak GONADS and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (SEX CHROMOSOMES) constitution as shown by the karyotypes of 45,X monosomy (TURNER SYNDROME); 46,XX (GONADAL DYSGENESIS, 46XX); 46,XY (GONADAL DYSGENESIS, 46,XY); and sex chromosome MOSAICISM; (GONADAL DYSGENESIS, MIXED). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
Year introduced: 1980
Cloaca
A dilated cavity extended caudally from the hindgut. In adult birds, reptiles, amphibians, and many fishes but few mammals, cloaca is a common chamber into which the digestive, urinary and reproductive tracts discharge their contents. In most mammals, cloaca gives rise to LARGE INTESTINE; URINARY BLADDER; and GENITALIA.
Year introduced: 1968
Omphalocele exstrophy imperforate anus [Supplementary Concept]
A combination of congenital abnormalities that include umbilical hernia (omphalocele), exstrophy of the CLOACA, imperforate anus, and spinal defects. Most cases are sporadic. OMIM: 258040
Date introduced: August 25, 2010
Mullerian aplasia [Supplementary Concept]
Congenital abnormality characterized by mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia (MURCS) in female patients; males may exhibit renal and genital abnormalities, as well as AZOOSPERMIA. Patients may also present with MIDDLE-EAR abnormalities. Molecular basis is unknown. OMIM: 601076