ESPE Abstracts (2014) 82 P-D-2-2-582

Down Syndrome and Disorders of Sex Development: Only Coincidence or More?

Joyce Pupo, Tiago Jeronimo dos Santos, Leandra Steinmetz, Louise Cominato, Thais Della Manna, Hamilton Menezes Filho, Hilton Kuperman, Vaê Dichtchekenian, Nuvarte Setian & Durval Damiani


Instituto da Criança, HCFMUSP, São Paulo, SP, Brazil


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.