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  • Title: 46,XY male pseudohermaphroditism due to early foetal testicular dysgenesis.
    Author: Messinis IE, Nillius SJ.
    Journal: Acta Endocrinol (Copenh); 1981 Oct; 98(2):308-11. PubMed ID: 7293662.
    Abstract:
    A 17 year old patient with female phenotype and 46,XY karyotype presented because of primary amenorrhoea. Enlarged clitoris and pubic hair were observed and no breast development. Gonadotrophin values were greatly raised into the castrate range, while testosterone was at the upper limit of the normal range for females. No uterus, Fallopian tubes or remnants of Mullerian and Wolffian products were found at laparotomy. Bilateral inguinal masses were removed and proved to be testicular tissue. This case report shows that gonads can be present in patients with the clinical and endocrinological characteristics of the syndrome of 'true agonadism'.
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