paeds390

paeds390

A 17-year-old Jewish girl presents with primary amenorrhoea. On examination, she looks a little hirsute and has evidence of facial acne. She is within her predicted adult height and has normal breast and external genitalia development, however, there is excess hair over her lower abdomen and around her nipple area.Investigations were as follows:Hb 13.1 g/dlWCC 8.6 x109/lPLT 201 x109/lNa+ 139 mmol/lK+ 4.5 mmol/lCreatinine 110 µmol/l17-OH progesterone 1.4 times the upper limit of normalPelvic ultrasound: bilateral ovaries and uterus visualised.Which of the following is the most likely diagnosis?