A patient with complete androgen insensitivity syndrome (CAIS) presenting as a case of indirect inguinal hernia: A case report
الملخص
The management of intersex patients is a challenge. Although in the majority of
patients the diagnosis may be made on the basis of cytogenetic and biochemical
tests, there is a selective group of patients with difficulties in the establishment of
final diagnosis and gender assignment1
.
Complete androgen insensitivity syndrome, commonly known as the testicular
feminization syndrome, is characterized by a 46, XY karyotype, bilateral testes,
absent or hypoplastic Wolffian ducts, and female-appearing external genitalia with
diminished axillary and pubic hair development. Although initial diagnosis in the
child is difficult, the syndrome must be suspected after puberty if primary
amenorrhea is present2
. Androgen insensitivity syndrome (AIS) is an X-linked
recessive disorder characterized by impairment of the androgen-dependant male
sexual differentiation3
.
المراجع
2.Tokgoz H, Turksoy O, Boyacigil S et al. Complete androgen insensitivity syndrome: report of a case with solitary pelvic kidney. Acta Radiol. 2006 Mar;47(2):222-5
3.Tokgoz H, Turksoy O, Boyacigil S et al. Complete androgen insensitivity syndromeActa Radiol. 2006 Mar;47(2):222-5
4.Mooney SD, Klein TE, Altman RB et al. A functional analysis of disease-associated mutations in the androgen receptor gene. Nucleic Acids Res. 2003; 31(8): 42.
5.Mooney SD, Klein TE, Altman RB et al. A functional analysis of disease-associated mutations in the androgen receptor gene. Nucleic Acids Res. 2003; 31(8): 42.
6.Muller J, Skakkebaek NK. Testicular carcinoma in situ in children with the androgen insensitivity (testicular feminization) syndrome. B M J 1984 (288): 1419-1420
7.Thyen U, Lanz K, Holterhus PM. et al. Epidemiology and initial management of ambiguous genitalia at birth in Germany. Horm Res. 2006;66(4):195-203
8.Natarajan A. Medical ethics and truth telling in the case of androgen insensitivity syndrome. Ca Med Assoc J. 1996; 154 (4): 568-70