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.
18 Sep 2014 - 20 Sep 2014