The XY female child.

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The XY female child.

It has been known for some years that apparently female patients are sometimes found to have an XY sex chromosome complement. Morris (1953) focused attention upon the syndrome of testicular feminization in which, despite the presence of XY sex chromosomes and testes, the phenotype and secondary sexual development are female. Harnden and Stewart (1959) applied the term pure gonadal dysgenesis to...

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Female with 46, XY karyotype

Disorders of sex development (DSD) are congenital conditions characterized by atypical development of chromosomal, gonadal, and phenotypic sex. 46, XY DSD can result from disorders of testicular development or disorders of androgen synthesis/action. Prophylactic gonadectomy should be considered in patients with 46, XY DSD because of the increased risk of gonadal malignancy. We report two rare c...

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46, XY female--a case report.

INTRODUCTION We examine a presumptive case of complete androgen insensitivity syndrome (CAIS) with certain unusual features. CLINICAL PICTURE A woman with early onset osteoporosis gave a history of primary amenorrhoea and surgery for intraabdominal gonads. She subsequently defaulted follow-up and hormone replacement therapy. Endocrinological evaluation revealed hypergonadotrophic hypogonadism...

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The XY female in sport: the controversy continues.

The summer and winter Olympic Games have been accompanied by much press coverage of the controversy and confusion over sex tests for sportswomen. Much of this has centred on the eligibility of subjects with androgen insensitivity to compete in women's events. The purpose of this paper is to review the process of sex differentiation and its abnormalities, highlighting those conditions in which b...

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The XY Female (Androgen Insensitivity Syndrome)-Runs in the Family.

Androgen insensitivity syndrome (AIS) was first described in details by Morris [1], who provided the descriptive terms—testicular feminization syndrome for this disorder, which is inherited as X-linked recessive disorder. The underlying pathology is the inability of the end organs to respond to androgens, either due to lack of androgen cytosol receptor or defect in the receptor. Genotypically t...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1970

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.45.242.595