Introduction: Down syndrome (DS) is a common condition and its association with disorders of sex development (DSD) is quite rare.
Case report: We report four DS patients with DSD. Patient 1: 22 days old, undefined sex. 2.5 cm phallus, non-palpable gonads, and perineal urethra. Testosterone=332 ng/dl (at 1 mo), uterus on ultrasound, 47,XY +21 karyotype. A gonadoblastoma on the left gonad and a streak on the right. Dx DSD Mixed Gonadal Dysgenesis. Patient 2: 7.1 year-old, male. 3 cm phallus, non-palpable gonads, proximal hypospadia. No response of testosterone under hCG. 46,XY+t(21q 21q) karyotype. Dx DSD dysgenetic. Patient 3: 1.1 year-old, male. 47,XX +21 karyotype. Testosterone=250.5 ng/dl under hCG, no müllerian remnants, SRY +. Histology bilateral testes. Dx DSD testicular. Patient 4: 5.1 year-old, male. 1 cm phallus, palpable gonads, topic urethra. No T response to hCG. 47,XY qh +21 karyotype. Dx DSD disgenetic.
Conclusion: Although uncommon, DS patients may present DSD and it is important not to miss these cases, since it will change the future approach with regard of rearing sex.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology