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© Research
Publication : American journal of medical genetics. Part A

46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in American journal of medical genetics. Part A - 01 Jan 2003

Le Caignec C, Baron S, McElreavey K, Joubert M, Rival JM, Mechinaud F, David A

Link to Pubmed [PMID] – 12476449

Am. J. Med. Genet. A 2003 Jan;116A(1):37-43

46,XY gonadal dysgenesis is characterized by abnormal testicular determination. We describe a large kindred in which various disorders of sexual development were observed, ranging from completely female phenotype without ambiguities of the external genitalia (five cases) to men with isolated penile or perineal hypospadias (four cases), including two cases with moderate virilization and one case with ambiguity of the external genitalia. Histologic examination of gonadal tissue was performed on seven subjects. These findings were suggestive of complete gonadal dysgenesis in one patient, partial gonadal dysgenesis in three patients, and mixed gonadal dysgenesis in three patients. Four patients developed gonadal tumors (two gonadoblastoma, two dysgerminoma, and one immature teratoma, i.e., one patient had a dysgerminoma with some areas of gonadoblastoma). All affected subjects had no other congenital anomalies or dysmorphic features. Analysis of families with several affected individuals with 46,XY gonadal dysgenesis implied an X-linked mode of inheritance because of the apparent absence of male-to-male transmission. However, a sex-limited autosomal dominant mode of inheritance affecting only XY individuals could not be ruled out. Analysis of the pedigree we report indicated an autosomal dominant mode of inheritance because of male-to-male transmission. This kindred supports the involvement of at least one autosomal gene in non-syndromic 46,XY gonadal dysgenesis.

http://www.ncbi.nlm.nih.gov/pubmed/12476449