Abstract
A first-born child born out of non-consanguinity, with term delivery and low birth weight was brought at 1 year 4 months of age with left undescended testis and ambiguity. Antenatal, perinatal and developmental history were uneventful. There was no h/o failure to thrive or generalized hyperpigmentation. On examination there was bifid scrotum with rugosities and palpable testis on the right with left testis in the inguinal canal. The shaft measured 2 cm with penoscrotal hypospadias. On evaluation the stimulated T: DHT was 127.3 and T: A was 13.42, suggestive of 5-alpha reductase deficiency. However, the karyotyping revealed 47XXY karyotype. Clinical exome sequencing did not reveal any mutations. Ambiguity is a rare presentation in patients with Klinefelter's syndrome.
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