hrp0095p2-187 | Growth and Syndromes | ESPE2022

Combination Down / Klinefelter syndrome - a Clinical Case

Koleva Reni , Popov Borislav , Nadegda Dimitrova , Ana Grigorova , Valeria Petrova

Introduction: The combination Down/Klinefelter syndrome was first described in 1959 by Ford. Its frequency is 0.4-0.9 / 10,000 newborn boys.Case presentation: A boy aged 5 y 4 m, born from a 2nd high-risk pregnancy (mother aged 44 with 1st pregnancy resulting in spontaneous abortion at 12 gestational weeks and with twice-established anemic syndrome) with (+) biochemical screening for Down syndrome. Birth was given via pl...