@article{3140303,
    title = "Sex-reversed phenotype in association with two novel mutations
c.2494delA and c.T3004C in the ligand-binding domain of the androgen
receptor gene",
    author = "Galani, Angeliki and Sofocleous, Christalena and Karahaliou, Feneli and and Papathanasiou, Asteroula and Kitsiou-Tzeli, Sofia and Kalpini-Mavrou, and Ariadni",
    journal = "International Journal of Fertility and Sterility",
    year = "2008",
    volume = "90",
    number = "5",
    publisher = "EXCERPTA MEDICA INC-ELSEVIER SCIENCE INC",
    doi = "10.1016/j.fertnstert.2008.01.030",
    keywords = "Androgen receptor; CAIS; novel mutation; Mullerian duct remnants;
c.2494delA; c.T3004C",
    abstract = "Objective: To establish the diagnosis of complete androgen insensitivity
syndrome (CAIS) in two patients with characteristic clinical and
hormonal findings, relative family history in one of them, and unusual
Mullerian remnants in the other.
Design: Case report.
Setting: Research laboratory in the Department of Medical Genetics at a
university children’s hospital.
Patient(s): Two patients with 46, XY sex reversal and two maternal aunts
of the first patient with the same clinical condition were tested.
Intervention(s): Bilateral gonadectomy was performed on both patients.
Main Outcome Measure(s): Genetic counseling, cancer prophylaxis, hormone
substitution therapy.
Result(s): Molecular analysis revealed two novel mutations, a frameshift
familial (c.2494delA) in patient 1 and a missense sporadic (c.T3004C) in
patient 2. The c.2494delA mutation was also detected in two of the three
affected maternal aunts of patient 1. Patient 2 presents an unusual
persistence of Mullerian structures.
Conclusion(s): Genetic counseling of potential women carriers of
androgen receptor (AR) mutations is crucial for the early diagnosis of
the affected offspring. The presence of Mullerian remnants, although
rare, should not exclude the diagnosis of CAIS. Both identified
mutations are novel and provide further evidence for the correlation
between specific AR mutations and phenotype. (Fertil Steril (R)
2008;90:2008.e1-e4. (C)2008 by American Society for Reproductive
Medicine.)"
}