5-alpha-reductase is an enzyme for converting testosterone to dehydrotestestrone (DHT). A five-month-old infant with a karyotype of 46 XY and female genitalia referred to endocrinology clinic. Regarding the presence of Down syndrome in the family medical history, her mother had amniocentesis during pregnancy. The amniocentesis mentioned xy karyotype. However, repeated ultrasounds mentioned female genitalia. After birth, at 5 months, a first ultrasound mentioned no testis but second ultrasound confirmed the existence of testis. No ovary and uterine was noted and there was a pseudovagina. Regarding the lack of electrolyte imbalance and definite female genitalia during first 5 months, less probably it seemed that patient had congenital adrenal hyperplasia. Therefore, based on function and receptor of testosterone, 46 xy DSD was noted for this patient. To assess the androgen insensitivity by 17 ketosteroidase and 5 alfa redoctase, Hcg test with three dosages was performed. Then, to confirm the result, a genetic and molecular study was performed and to the best of our knowledge, results showed a new mutation in PLLE159 ARG variant in the SRD5A2 gene which has ot been published in our knowledge. in silica analysis predicts the variant in disease causingthe protein structure/ function.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology