47,XYY is a chromosomal abnormality syndrome that is typically observed in patients with a male phenotype. Few patients with XYY syndrome will have infertility. We here report a case of 46,XY/47,XYY syndrome diagnosed in a patient with a female phenotype. A 15-year-old patient with a female phenotype visited our hospital owing to a chief complaint of short stature as of the age of 6 years. She was diagnosed with dwarf syndrome at the age of 10, but no change was noted after 2 months of growth hormone treatment. The patient’s height was 136 cm and the weight was 29 kg, both of which were below the third percentile for her age/gender. In addition to short stature, the 4th and 5th metacarpals were short and there was no significant sex development. Karyotype analysis showed 47,XYY, and chromosomal microarray examination showed a chimera of 46,XY/47,XYY. This is an extremely rare case of 47,XYY abnormality in a patient with a female phenotype, with only one such known case reported previously. Since the cause is unknown, and symptoms of this syndrome are highly atypical and variable in childhood, clinicians should be aware of this possibility to avoid misdiagnosis and offer counseling and hormone therapy as needed to patients and their parents to improve their quality of life.

中文翻译：

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一例有46，XY / 47，XYY核型和女性表型的病例报告

47，XYY是一种染色体异常综合征，通常在男性表型患者中观察到。XYY综合征的患者中很少有不孕症。我们在这里报告一例女性表型诊断为46，XY / 47，XYY综合征的病例。一名15岁的女性表型患者因主诉6岁时身材矮小而来我院就诊。她在10岁时被诊断出患有矮人综合症，但是在接受生长激素治疗2个月后没有发现任何变化。该患者的身高为136厘米，体重为29千克，均低于其年龄/性别的三分之一。除了身材矮小外，第4和第5掌骨很短，没有明显的性别发育。核型分析显示47，XYY，染色体微阵列检查显示嵌合体为46，XY / 47，XYY。在女性表型患者中，这是极少见的47，XYY异常病例，以前仅报道过一种这样的已知病例。由于原因不明，并且该综合征的症状在儿童时期非常不典型且易变，因此临床医生应意识到这种可能性，避免误诊，并根据需要向患者及其父母提供咨询和激素治疗，以改善他们的生活质量。