ABSTRACT
A phenotypical girl aged 16 years with primary amenorrhoea had an XY-karyotype and reacted positively to serologically demonstrable H-Y antigen. The left gonad was an immature testis while the right was a streak gonad with a gonadoblastoma. The value of H-Y antigen determinations in the diagnosis and choice of treatment is discussed.
Subject(s)
Gonadal Dysgenesis, 46,XY/diagnosis , Gonadal Dysgenesis/diagnosis , Adolescent , Female , Gonadal Dysgenesis, 46,XY/immunology , H-Y Antigen/analysis , HumansABSTRACT
Six cases of Swyer's syndrome (46,XY pure gonadal dysgenesis) are reported. Three patients, without gonadal tumor, had female H-Y antigen. Three patients, after gonadal tumor ablation, had intermediate H-Y antigen levels. Repeated blood samples were obtained from two siblings. H-Y antigen level in the first sibling, who presented with a gonadoblastoma and underwent a gonadectomy before the H-Y assays, was intermediate, and did not show any significant variation for 21 months. H-Y antigen level in the second sibling showed an increase in the male range, presumably due to the presence of gonadoblastomas. After resection of the tumors, H-Y antigen level became intermediate. These findings suggest a relation between the tumorization potentiality of the gonadal remnants and the H-Y antigen levels in 46,XY pure gonadal dysgenesis.
Subject(s)
Dysgerminoma/immunology , Genital Neoplasms, Female/immunology , Gonadal Dysgenesis, 46,XY/immunology , Gonadal Dysgenesis/immunology , H-Y Antigen/analysis , Adolescent , Adult , Child , Child, Preschool , Dysgerminoma/complications , Female , Genital Neoplasms, Female/complications , Gonadal Dysgenesis, 46,XY/complications , Humans , Karyotyping , Leukocytes/immunology , Male , Virilism/complicationsABSTRACT
H-Y activity, endocrine function and gonadal histology were studied in a phenotypic female presenting with features of sporadic 46,XY pure gonadal dysgenesis. H-Y activity was absent, hormonal data revealed a primary ovarian failure with a blunted response of FSH to LHRH; there was no testicular tissue nor microscopic evidence of gonadal tumor in the gonads. The current view on the role of H-Y antigen in the differentiation of the gonads and in the occurrence of gonocytoma is discussed.
Subject(s)
Gonadal Dysgenesis, 46,XY/immunology , Gonadal Dysgenesis/immunology , H-Y Antigen/analysis , Adult , Female , Follicle Stimulating Hormone/blood , Gonadal Dysgenesis, 46,XY/pathology , Humans , Luteinizing Hormone/blood , Ovary/pathology , PedigreeSubject(s)
Gonads/immunology , H-Y Antigen/genetics , Receptors, Antigen/genetics , Animals , Arvicolinae/immunology , Chromosome Aberrations , Disorders of Sex Development , Female , Gonadal Dysgenesis, 46,XY/genetics , Gonadal Dysgenesis, 46,XY/immunology , Humans , Male , Sex Differentiation , Y ChromosomeSubject(s)
Gonadal Dysgenesis, 46,XY/immunology , Gonadal Dysgenesis/immunology , H-Y Antigen/immunology , Adult , Amenorrhea/etiology , Amenorrhea/immunology , Antigens/immunology , Female , Gonadal Dysgenesis, 46,XY/genetics , Gonadal Dysgenesis, 46,XY/surgery , Gonads/pathology , Humans , LaparotomyABSTRACT
The gonads of 4 phenotypically female individuals with XY chromosomal constitution and signs of virilisation were examined by light microscopy. Electron microscopic examination was also performed in two cases. Serological analysis of H-Y antigen titer yielded positive results. The matrix of the gonads is shown to be ovarian stroma, in which tubular and follicular structures are embedded. The epithelia of the follicles resemble granulosa cells of the ovary, the tubular epithelia are resemble Sertoli cells. Tubules and follicles both show extensive regressive changes. A varying number of Leyding cells/stroma lutein cells were found in each gonad. The different degree of development of testicular and ovarian structures in the dysgenetic gonads might be explained by a defect of the gonadal specific receptor for the H-Y antigen, this defect varying in time of occurrence, duration and severity.
Subject(s)
Gonadal Dysgenesis, 46,XY/pathology , Gonadal Dysgenesis/pathology , H-Y Antigen/analysis , Adult , Female , Gonadal Dysgenesis, 46,XY/immunology , Gonads/ultrastructure , Histocompatibility Antigens/analysis , Humans , Leydig Cells/ultrastructure , Male , Microscopy, ElectronABSTRACT
H-Y antigen testing was positive in a case of pseudohermaphroditism due to XY gonadal absence syyndrome. In conclusion, H-Y antigen may be present even in the absence of testes. Also, the syndrome could not have originated from a defect in the H-Y antigen system.
Subject(s)
Disorders of Sex Development/immunology , Gonadal Dysgenesis, 46,XY/immunology , Gonadal Dysgenesis/immunology , H-Y Antigen/isolation & purification , Chromosome Banding , Humans , MaleSubject(s)
H-Y Antigen/genetics , Sex Differentiation , Testis/embryology , Animals , Disorders of Sex Development/genetics , Dogs , Female , Goats , Gonadal Dysgenesis, 46,XY/genetics , Gonadal Dysgenesis, 46,XY/immunology , Humans , Male , Mice , Rodentia , Sex Chromosome Aberrations/genetics , X Chromosome/ultrastructure , Y Chromosome/ultrastructureABSTRACT
The H-Y antigen is a plasma membrane antigen involved in the organogenesis of the mammalian testis. Its expression on human cells is determined by a Y-linked gene. Phenotypic females affected by 46,XY gonadal dysgenesis (Swyer's syndrome) can be either H-Y-positive or H-Y-negative. In this paper we report H-Y antigen and endocrine studies in a sibship with three affected sisters. Immunological studies were performed on two of the patients, and a clearly positive expression was detected in both cases. Endocrine studies consisted in the investigation of the hypothalamic-pituitary-gonadal axis, which revealed that gonadal hormone insufficiency is the only endocrine abnormality associated with the syndrome. A new genetic interpretation and calssification of XY gonadal dysgenesis is proposed.
