Endocrine Abstracts

Introduction: The 17 α-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia. It is characterized by amenorrhea, impuberism, hypertension and hypokalemia. We report a case of 17α-hydroxylase deficiency in a patient with a 46,XX karyotype, which contrasted with the absence of Mullerian duct.

Case report: An18-year-old female was referred for primary amenorrhea. Her parents were cousins. Her sister, who had the same features, died suddenly at the age of 25. Physical examination showed hypertension (160/90 mm Hg), impuberism (S1P1 stage of Tanner classification) and normal female pre-pubertal external genitalia. The karyotype was 46, XX. Biological evaluation showed hypokalemia, primary hyperaldosteronism and low levels of all steroid hormones requiring α-hydroxylation (cortisol, 17α-hydroxy progesterone, dehydroepiandrosterone sulfate, 11 desoxycortisol, Δ4 androstenedione and testosterone). Thus, the diagnosis of 17 α-hydroxylase deficiency has been suspected. However, ultrasound and pelvic MRI did not show gonads or Mullerian ducts, which did not fit with the 46, XX karyotype. The patient was treated with hydrocortisone and spironolactone, with normalization of blood pressure and kaliemia. Estrogen replacement therapy was started to induce pubertal development. The genetic study is planned.

Conclusion: In contrast to other forms of congenital adrenal hyperplasia, the diagnosis of 17 α-hydroxylase deficiency is usually delayed to adulthood. It must be suspected in all young hypertensive patients with hypokalemia and amenorrhea. We have found no previous similar case with gonadal agenesis and absent Mullerian ducts in 46,XX subjects with 17 α-hydroxylase deficiency. Further exploration may be needed to explain this association.