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. Father has type 2 diabetes mellitus. USG was repeated. Uterus and ovaries were not observed in USG. In the proximal part of both inguinal canals, 20x7 mm sized testicular parenchyma-like appearances were observed. There was hypergonadotropic hypogonadism and high level of progesterone with adrenal insufficiency; ACTH 115 ng /l (7.2-63), cortisole 0.43 µg/dl, progesterone 8.45 µg/l (0.31-1.52). Hydrocortisone treatment with 20 mg/m2/day dose to the patient was started. 17-hydroxylase genetics were studied. The patient's caryotype was 46XY. In the genetic study, CYP17A1 (NM_000102.3) mutation was detected in both alleles (homozygous) c.1319G> (p.Arg440His). The patient was consulted with Pediatric Surgery. Bilateral orchioectomy was performed by laparoscopy. The tissue was macroscopically compatible with atrophic testicular tissue. Pathology report was immature testicular tissues and congested testicular structures. After the operation, estradiol 0.5 mg orally was started. In the follow-up, high level of blood sugar was observed 3 weeks after the operation. HbA1C was 8.5%, C-peptide 3.51 µg/l (0.9-7.1), insulin 13.05 mU/l (1.9-23), diabetes autoantibodies (-) in laboratory. Insulin and metformin treatment were started. Insulin treatment was discontinued later in the patient because of type 2 diabetes mellitus. The follow-up and treatment of the patient were hydrocortisone 20 mg/m2/day, estradiol 1 mg/day and metformin 1 g orally twice in a day. Hypertension, hypokalemia and renin aldosterone suppression are present in 17-hydroxylase enzyme deficiency. 46XY cases with severe deficiency have a completely female external genital organ due to testosterone deficiency in intrauterine life. These cases are often diagnosed due to lack of secondary sex characteristics or amenorrhea in advanced ages. Since their sexual identity also developed as girls during this period, no gender change is made. There is a risk of gonadal malignancy due to the intra-abdominal testicles. In this case, we wanted to emphasize that 17-hydroxylase deficiency, which is rarely seen, is a cause of gender development disorder and to discuss the surprising developed diabetes mellitus in the follow-up.
22 Sep 2021 - 26 Sep 2021