Biomaterial Database

Absence of H-Y antigen in an XY female with campomelic dysplasia. 1981

S M Puck, and F P Haseltine, and U Francke

We have studied a stillborn infant who had the clinical and radiographic characteristics of campomelic dysplasia. External and internal genitalia were those of a normal female, except for slight enlargement of the clitoris. Microscopic examination of the ovaries revealed some areas resembling immature dysgenetic testicular tissue. Karyotypes from lymphocyte and fibroblast cultures were 46,XY with a structurally normal Y chromosome and no evidence of mosaicism. H-Y antigen was not detected on the fibroblasts in repeated assays using Raji cells as target cells after absorption. The "sex- reversal" (chromosomal male Leads to phenotypic female) previously noted in patients with autosomal recessive campomelic dysplasia thus may be mediated through lack of detectable H-Y antigen on the cell surface. It appears that the mutation leading to campomelic dysplasia interferes with normal H-Y antigen expression.

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
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
D010007	Osteochondritis	Inflammation of a bone and its overlaying CARTILAGE.	Meniscitis,Meniscitides,Osteochondritides
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D005187	Fallopian Tubes	A pair of highly specialized canals extending from the UTERUS to its corresponding OVARY. They provide the means for OVUM transport from the ovaries and they are the site of the ovum's final maturation and FERTILIZATION. The fallopian tube consists of an interstitium, an isthmus, an ampulla, an infundibulum, and fimbriae. Its wall consists of three layers: serous, muscular, and an internal mucosal layer lined with both ciliated and secretory cells.	Oviducts, Mammalian,Salpinges, Uterine,Salpinx, Uterine,Uterine Salpinges,Uterine Salpinx,Fallopian Tube,Uterine Tubes,Mammalian Oviduct,Mammalian Oviducts,Oviduct, Mammalian,Tube, Fallopian,Tube, Uterine,Tubes, Fallopian,Tubes, Uterine,Uterine Tube
D005260	Female		Females
D005313	Fetal Death	Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.	Fetal Mummification,Fetal Demise,Death, Fetal,Deaths, Fetal,Demise, Fetal,Fetal Deaths,Mummification, Fetal
D006059	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.	Gonadal Agenesis,Dysgenesis, Gonadal
D006061	Gonadal Dysgenesis, 46,XY	Defects in the SEX DETERMINATION PROCESS in 46, XY individuals that result in abnormal gonadal development and deficiencies in TESTOSTERONE and subsequently ANTIMULLERIAN HORMONE or other factors required for normal male sex development. This leads to the development of female phenotypes (male to female sex reversal), normal to tall stature, and bilateral streak or dysgenic gonads which are susceptible to GONADAL TISSUE NEOPLASMS. An XY gonadal dysgenesis is associated with structural abnormalities on the Y CHROMOSOME, a mutation in the GENE, SRY, or a mutation in other autosomal genes that are involved in sex determination.	Swyer Syndrome,46, XY Gonadal Dysgenesis,46, XY Gonadal Sex Reversal,46,XY Complete Gonadal Dysgenesis,Complete Gonadal Dysgenesis, 46, XY,Gonadal Dysgenesis, 46, XY,Pure Gonadal Dysgenesis 46,XY,Pure Gonadal Dysgenesis, 46, XY,Sex Reversal, Gonadal, 46, XY,XY Pure Gonadal Dysgenesis,Syndrome, Swyer