Report of a kindred with x-linked (or autosomal dominant sex-limited) 46, XY partial gonadal dysgenesis

Journal Article · Sat May 01 00:00:00 EDT 1993 · Journal of Clinical Endocrinology and Metabolism; (United States)

DOI:https://doi.org/10.1210/jc.76.5.1248· OSTI ID:6441101

Fechner, P Y; Marcantonio, S M; Ogata, T; Rosales, T O; Smith, K D; Goodfellow, P N; Migeon, C J; Berkovitz, G D ^[1]

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1. Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States)

The condition termed 46, XY complete gonadal dysgenesis is characterized by the lack of testicular determination with resulting streak gonads, normal Mullerian structures, and female external genitalia. In the partial form, there is incomplete testicular determination with a wide range in the degree of ambiguous genitalia and sexual duct development. The authors evaluated a kindred in which a partial form of 46, XY gonadal dysgenesis occurred in four subjects from two generations. Pedigree analysis indicated an X-linked or possibly an autosomal sex-limited mode of inheritance. All affected subjects were ascertained because of ambiguous genitalia with minimal virilization. At 10 days of age, the proband had a subnormal plasma level of testosterone, and at 4 months, there was no rise in plasma T after stimulation with hCG. At laparotomy, a dysgenetic gonad was found on the right side, but no gonad was found on the left side. A vas deferens was present on the right, indicating the presence of functional leydig cells early in fetal life. In the other affected subjects, gonadal tissue was also limited to one side of the abdomen and showed poorly developed seminiferous tubules. The sex-determining region Y gene, which encodes the testis-determining factor, was present and unaltered in the genomic DNA of all affected subjects. Duplication of the distal short arm of the X-chromosome has been associated with 46, XY complete gonadal dysgenesis in some patients. In the authors studies, Southern blot analysis revealed that sequences of the distal short arm of the X-chromosome were present in single copy, excluding a large duplication in this area of the X. Several kindreds with familial 46, XY complete gonadal dysgenesis have been reported; five of them had evidence of an X-linked mode of inheritance. The authors study of a kindred with 46, XY partial gonadal dysgenesis further supports the role of an X chromosome gene in testicular determination. 44 refs., 1 fig., 3 tabs.

• OSTI ID: 6441101
• Journal Information: Journal of Clinical Endocrinology and Metabolism; (United States), Vol. 76:5; ISSN 0021-972X
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
GONADS
CONGENITAL MALFORMATIONS
HUMAN X CHROMOSOME
GENE MUTATIONS
TESTES
DNA HYBRIDIZATION
FEMALE GENITALS
HUMAN Y CHROMOSOME
TESTOSTERONE
ANDROGENS
ANDROSTANES
BODY
CHROMOSOMES
HETEROCHROMOSOMES
HORMONES
HUMAN CHROMOSOMES
HYBRIDIZATION
HYDROXY COMPOUNDS
KETONES
MALE GENITALS
MALFORMATIONS
MUTATIONS
ORGANIC COMPOUNDS
ORGANS
PATHOLOGICAL CHANGES
STEROID HORMONES
STEROIDS
X CHROMOSOME
Y CHROMOSOME
550400* - Genetics
550800 - Morphology
550900 - Pathology