Abstract

Dual genetic diagnoses requiring endocrine surveillance represents an unusual clinical scenario. We present an interesting case of a 4 year 3-month-old male who was diagnosed with 21-hydroxylase insufficiency and a sex chromosome trisomy of 47, XYY. The child was born at 37 weeks gestation to a 29-year-old mother who conceived using in virto fertilization. Pregnancy was uncomplicated until the third trimester when oligohydramnios was diagnosed and the birth was induced. Mother underwent noninvasive prenatal screening that suggested sex chromosome aneuploidy.

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