Background: Klinefelter Syndrome (KS) is the most common sex chromosome disorder in males caused by additional X chromosome. It is characterized by progressive testicular failure. KS patient usually have complete male sexual differentiation without genital ambiguity. The prevalence of KS is 1 in 660 males which only 10% are detected before or during puberty, and about two third so fall men with X-chromosome polyploidies fail to be identified during their lifetime.
Objective: To report a rare case of Klinefelter Syndrome (KS) with ambiguous genitalia in a 14 months old boy, especially for improving pediatrician awareness to recognize of this disorder as early as possible
Case: Fourteen months old boy, BW 9.3 kg (WAZ <−2 S.D.); BH 76 cm (LAZ 0-(−2) S.D.); HC 44 cm (<−2 S.D.) visit pediatric endocrinology outpatient clinic with small penile buried beneath scrotal and hypospadias. There were gonads palpable before scrotal. The phallic length was 1.8 cm and diameter was 1 cm. Karyotyping showed 47, XXY. Genitography revealed contrast could passing through anterior and posterior urethra. Genital USG showed the right testicle lies right prescrotal and left testicle lies left prescrotal. The bone age revealed as 14 months old boy.
Conclusion: We reviewed the rare case of ambiguous genitalia associated with Klinefelter Syndrome (KS) in a child from endocrinology outpatient clinic Dr. Soetomo Hospital.
Keywords: Klinefelter, 47, XXY
27 - 29 Sep 2018
European Society for Paediatric Endocrinology