46, XY Female Karyotype Containing SRY
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概要
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We report the case of a girl with a 46, XY karyotype containing the sex determining region Y gene (SRY). She was 14 years old, with the height of 131.2 cm (-4.5 SD). She had a low hair line, shield-shaped chest and multiple pigmented naevi on her face. The external genitalia were normal female. No inguinal or labial masses were found. Chromosomal analysis from blood lymphocytes and skin fibroblasts revealed a 46, XY karyotype. The basal levels of serum luteinizing hormone (LH) and follicle stimulating hormone (FSH) and their responses to LH-releasing hormone (RH) stimulation were elevated; the insulin-like growth factor-I (IGF-I), thyroid function and growth hormone (GH) secretory responses to insulin and glucagon were normal. SRY was identified on the short arm of the Y chromosome using Y-specific deoxyribonucleic acid (DNA) probes. There were no mutations in the SRY by direct sequencing analysis. Pelvic ultrasound and magnetic resonance imaging (MRI) did not reveal internal genitalia. Gonadectomy may be necessary because she has a substantial risk of developing malignant germ cell neoplasia. Two questions arise: 1) why was male sexual differentiation inhibited although she had a normal SRY, and 2) why did she have the appearance of Turner syndrome?
- 日本小児内分泌学会の論文
日本小児内分泌学会 | 論文
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