The role of the sex-determining region Y gene in the etiology of 46,XX maleness

Journal Article · Sun Feb 28 23:00:00 EST 1993 · Journal of Clinical Endocrinology and Metabolism; (United States)

DOI:https://doi.org/10.1210/jcem.76.3.8383144· OSTI ID:6467482

Fechner, P Y; Marcantonio, S M; Jaswaney, V; Stetten, G; Migeon, C J; Smith, K D; Berkovitz, G D ^[1]; Goodfellow, P N ^[2]; Amrhein, J A ^[3]; Bard, P A ^[4]; Lee, P A ^[5]; Reid, C ^[6]; Tsalikian, E ^[7]; Urban, M D ^[8]

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1. Johns Hopkins Univ., Baltimore, MD (United States)
2. Imperial Cancer Research Fund, London (United Kingdom)
3. Forbes Regional Health Center, Monroeville, PA (United States)
4. Kaiser Permanente, Sacramento, CA (United States)
5. Univ. of Pittsburgh, PA (United States)
6. Robert Wood Johnson Medical School, Camden, NJ (United States)
7. Univ. of Iowa, Iowa City (United States)
8. Wright State Univ., Dayton, OH (United States)

The condition of 46,XX maleness is characterized by testicular development in subjects who have two X chromosomes but who lack a normal Y chromosome. Several etiologies have been proposed to explain 46,XX maleness: (1) translocation of the testis-determining factor from the Y to the X chromosome, (2) mutation in an autosomal or X chromosome gene which permits testicular determination in the absence of TDF, and (3) undetected mosaicism with a Y-bearing cell line. The authors evaluated 10 affected subjects who were ascertained for different reasons and who had several distinct phenotypes. Six subjects had inherited sequences from the short arm of the Y chromosome including the sex-determining region Y gene (SRY). Five of the subjects were pubertal at the time of evaluation and had a phenotype similar to that of Klinefelter syndrome with evidence of Sertoli cell and Leydig cell dysfunction. One subject had evidence from Southern blot analysis and in situ hybridization for the presence of an intact Y chromosome in approximately 1% of cells. Three subjects lacked Y sequences by Southern blot analysis and by polymerase chain reaction amplification of SRY. These subjects were ascertained in the newborn period because of congenital anomalies. One had multiple anomalies including cardiac abnormalities; one had cardiac anomalies alone; and one had ambiguous genitalia. The data confirm the genetic heterogeneity of 46,XX maleness, in which some subjects have SRY while other subjects lack it. In addition, there is phenotypic heterogeneity among subjects who lack SRY suggesting that there is also genetic heterogeneity within this subgroup. 43 refs., 3 figs., 4 tabs.

• OSTI ID: 6467482
• Journal Information: Journal of Clinical Endocrinology and Metabolism; (United States), Journal Name: Journal of Clinical Endocrinology and Metabolism; (United States) Vol. 76:3; ISSN JCEMAZ; ISSN 0021-972X
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMPLIFICATION
BIOLOGICAL VARIABILITY
CHROMOSOMES
DNA
DNA HYBRIDIZATION
ETIOLOGY
GENETIC VARIABILITY
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HUMAN X CHROMOSOME
HUMAN Y CHROMOSOME
HYBRIDIZATION
MALFORMATIONS
MOSAICISM
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
PATHOLOGICAL CHANGES
PHENOTYPE
SEX
TRANSLOCATION
X CHROMOSOME
Y CHROMOSOME