XY gonadal dysgenesis and the H-Y antigen. Report on 12 cases.

Human genetics ·Vol. 47 ·No. 3 ·1979-04-05 ·Pages 269-77

Wolf U

Abstract

H-Y antigen was determined in 12 patients affected by XY gonadal dysgenesis. Of these, three proved to be H-Y negative, and nine, including two sisters, were H-Y positive; two of the unrelated positive cases exhibited a reduced antigen titer. Therefore, this clinical condition must be genetically heterogeneous. It is assumed that in the negative cases and possibly in those with reduced antigen titer, the H-Y generating system is affected by mutation, while in the regular positive cases the target cells are unable to respond due to a defect of the gonad-specific H-Y antigen receptor.

MeSH Terms

Adolescent Adult Female Genes, MHC Class II Genes, Recessive H-Y Antigen/genetics Humans Mutation Phenotype Turner Syndrome/genetics,immunology X Chromosome

Chemicals

H-Y Antigen

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Wolf U

References (19)

19 references, click to expand

Fertile XX- and XY-type females in the wood lemming Myopus schisticolor.
Nature. 1976 May 20;261(5557):225-7 PMID: 1272393
Organization in vitro of ovarian cells into testicular structures.
Hum Genet. 1978 Nov 16;44(3):333-8 PMID: 730171
Recessive sex-determining genes in human XX male syndrome.
Cell. 1978 Nov;15(3):837-42 PMID: 569552
Studies on H-Y antigen in different cell fractions of the testis during pubescence: immature germ cells are H-Y antigen negative.
Hum Genet. 1978 Dec 29;45(3):297-303 PMID: 738729
Studies on the function of H-Y antigen: dissociation and reorganization experiments on rat gonadal tissue.
Cytogenet Cell Genet. 1978;20(1-6):365-72 PMID: 648187
Major regulatory genes for mammalian sexual development.
Cell. 1976 Mar;7(3):315-21 PMID: 181141
Absence of H-Y antigen in XY females with dysgenetic gonads.
Nature. 1978 Nov 9;276(5684):180-1 PMID: 740033
[The mechanism of gonadal differentiation].
Bull Schweiz Akad Med Wiss. 1978 Nov;34(4-6):357-68 PMID: 215259
Serologic detection of a y-linked gene in xx males and xx true hermaphrodites.
N Engl J Med. 1976 Sep 30;295(14):750-4 PMID: 986548
[Pure familial gonadal dysgenesis and gonadoblastoma].
Union Med Can. 1972 Mar;101(3):448-52 PMID: 5013462
Genetic basis of XX male syndrome and XX true hermaphroditism: evidence in the dog.
Science. 1978 Aug 18;201(4356):644-6 PMID: 675252
Binding studies of H-Y antigen in rat tissues: indications for a gonad-specific receptor.
Hum Genet. 1978 Aug 31;43(2):151-7 PMID: 308491
Possible role for H--Y antigen in the primary determination of sex.
Nature. 1975 Sep 18;257(5523):235-6 PMID: 1161026
Testicular cells lysostripped of H-Y antigen organize ovarian follicle-like aggregates.
Cytogenet Cell Genet. 1978;20(1-6):351-64 PMID: 77209
Clinical, pathologic, and genetic findings in a case of 46,XY pure gonadal dysgenesis (Swyer's syndrome). II. Presence of H-Y antigen.
Am J Obstet Gynecol. 1977 Apr 15;127(8):829-31 PMID: 851138
Familial XX true hermaphroditism and the H-Y antigen.
Hum Genet. 1979 Apr 17;48(1):45-52 PMID: 110671
Recessive male-determining genes.
Cell. 1978 Sep;15(1):279-81 PMID: 699047
H-Y antigen and the origin of XY female wood lemmings (Myopus schisticolor).
Nature. 1976 Dec 16;264(5587):638-9 PMID: 1004604
Genetically determined sex-reversal in 46,XY humans.
Science. 1978 Oct 6;202(4363):53-6 PMID: 567843

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00321019

Published

1979-04-05

Pages

269-77

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00321019 View journal details

Analysis Services

XY gonadal dysgenesis and the H-Y antigen. Report on 12 cases.

Contact

WeChat Official Account