XX male syndrome
| XX male syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | (Q98.3) |
| OMIM | 278850 |
XX male syndrome (also called de la Chapelle syndrome, for Albert de la Chapelle, who characterized it in 1972[1][2]) is a rare sex chromosomal disorder. Usually, it is caused by unequal crossing over between X and Y chromosomes during meiosis in the father, which results in the X chromosome containing the normally-male SRY gene. When this X combines with a normal X from the mother during fertilization, the result is an XX male.
This syndrome occurs in approximately four or five in 100,000 individuals, making it less common than Klinefelter syndrome.[3][4]
Presentation
Symptoms usually include small testes and subjects are invariably sterile. Individuals with this condition sometimes have feminine characteristics, with varying degrees of gynecomastia but with no intra-abdominal Müllerian tissue.[5] According to research at the University of Oklahoma health science centers, most XX males are not stereotypically feminine and are typical boys and men although other reports suggest that facial hair growth is usually poor and libido is diminished, with notable exceptions.[5][6]
Clinical diagnosis
- Standard XX karyotype in two tissues (with at least one, or both, containing the male SRY gene)
- Male external genitalia, sometimes showing hypospadias
- Two testes which may or may not have descended the inguinal canal. Most XX males have descended testes.
- Absence of Müllerian tissue
Pathophysiology
Males typically have one X chromosome and one Y chromosome in each diploid cell of their bodies. Females typically have two X chromosomes. XX males have two X chromosomes, with one of them containing genetic material from the Y chromosome, making them phenotypically male; they are genetically female but otherwise appear to be male.
See also
- Karyotype
- Swyer syndrome
- X chromosome, for other diseases related to the X chromosome.
- Androgen Insensitivity Syndrome
- XY female syndrome
External links
- GeneReviews/NCBI/NIH/UW entry on 46,XX Testicular Disorder of Sex Development
- GeneReviews/NCBI/NIH/UW entry on 46,XY Disorder of Sex Development and 46,XY Complete Gonadal Dysgenesis
References
- ↑ de la Chapelle A (1972). "Analytic review: nature and origin of males with XX sex chromosomes". Am J Hum Genet 24 (1): 71–105. PMC 1762158. PMID 4622299.
- ↑ de la Chapelle, Albert (1985). Cytogenetics of the mammalian X-chromsome, Part B: Progress and topics in cytogenetics. New York: Alan Liss. p. 75-85.
- ↑ Vorona E, Zitzmann M, Gromoll J, Schüring AN, Nieschlag E (September 2007). "Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients". J. Clin. Endocrinol. Metab. 92 (9): 3458–65. doi:10.1210/jc.2007-0447. PMID 17579198.
- ↑ http://www.healthline.com/galecontent/xx-male-syndrome Healthline.com: XX Male Syndrome
- ↑ 5.0 5.1 Lisker R, Flores F, Cobo A, Rojas FG (December 1970). "A case of XX male syndrome". J. Med. Genet. 7 (4): 394–398. doi:10.1136/jmg.7.4.394. PMC 1468937. PMID 5501706.
- ↑ Abusheikha N, Lass A, Brinsden P (2001). "Case Report: XX male without SRY gene and with infertility" (PDF). Human Reproduction 16 (4): 717–718. doi:10.1093/humrep/16.4.717. PMID 11278224.