Endocrine Abstracts

Introduction: Steroid 11β-hydroxylase deficiency (11-OHD) is the second most common causeof congenital adrenal hyperplasia (CAH),characterized by the overproduction of adrenal androgens and deoxycorticosterone (DOC).It usually presents with virilization of the female fetus, precocious puberty in male infants and hypertension with or without hypokalemia in both genders. Because of high levels of mineralocorticoids, patients rarely present with salt wasting (SW). We herein report a case of a patient with 11-OHD presenting with SW adrenal crisis.

Case report: A 10-year-old male was admitted to our department for the management of acute adrenal insufficiency. He was born at term to healthy consanguineous parents and had a history of severe dehydration, hyponatremia and sexual ambiguity at birth which was initially diagnosed as 21-hydroxylase deficiency. He was raised as a male but had absent testicles since birth. The patient was irregularly followed up. At the age of 4 years, precocious puberty and arterial hypertension were discovered. At the age of 10 years, the patient was admitted for management of acute adrenal insufficiency due to an abrupt withdrawal of hydrocortisone. On physical examination, he had a body weight of 37 kg (± 2 s.d.), a body height of 1.42 m (± 2 s.d.), a blood pressure of 130/60 mmHg, a masculine morphotype, a sexual ambiquity stage V of Prader and a pubertal development S4 P3 of Tanner. Laboratory examination revealed hypokaliemia of 2.1 mmol/l, normal LH, and FSH levels and high levels of testosterone, 17-OH-progesterone, 11-deoxycortisol, 11-deoxycorticosterone and DHEA-S. Basal 11-deoxycortisol and cortisol levels were 29.6 µg/l [nr: 0.2–1.4] and 0.9 µg/dl respectively and raised to 31.4 µg/l and 1.2 µg/dl at 60th minute, respectively, after ACTH stimulation test. Chromosome analysis revealed a 46XX karyotype. Pelvic ultrasonography showed normal uterine cavity with two ovaries. He was diagnosed as congenital adrenal hyperplasia due to 11-OHD and treated with hydrocortisone and spironolactone. After psychiatric expertise, phenotypic sex was chosen and the patient underwent surgical reparation at the age of 16 years.

Conclusion: Salt wasting crisis is rare in patients with 11-OHD. In newborns, there is a resistance to mineralocorticoids which could contribute to moderate and transient salt loss. However, the combination of both 21-hydroxylase and 11 β-hydoxylase has been reported in literature and it is unclear whether such association is due to a random occurrence of two different mutations or to a single mutation.