hrp0094p2-422 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

17-hydroxylase deficiency and diabetes in a case with 46 XY female

Yildirim Ahmet , Zeytun Hikmet , Albayrak Serpil , Karaoğlan Murat , Keskin Mehmet

A 13-year-old patient was admitted due to delayed puberty. Ovary and uterus had not seen in USG and MRI. On physical examination; body weight: 57 kg (79 P), height 157.7 cm (45P), BMI: 22.9 (83P), TA: 120/80 mmHg. The patient was externally in female appearance and there was no puberty development. Labia minora was seen. The urethral and vaginal openings were in the vestibulum and bilateral gonads could not be palpated in the inguinal canal. Mother and father was cousin. Fathe...