Introduction: Steroid 11β-hydroxylase deficiency is a relatively rare form of congenital adrenal hyperplasia characterized by the overproduction of adrenal androgens and deoxycorticosterone. 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 Addisonian crisis. We describe a male patient with 11β-hydroxylase deficiency undiagnosed untill 41 years old and presented with adrenal crisis.
Case report: A 41-year-old male was admitted to the emergency unit with dizziness, hypotension and unconsciousness which have started after acute gastroenteritis. He had acute renal failure, hospitalized in the intensive care unit. A cortisol level of 12.2 μg/dl in the intensive care conditions was compatible with adrenal insufficiency. He was born of a consanguineous marriage, was the shortest in his family (148 cm) and had a history of precocious puberty. He had a history of left orchiectomy 6 years ago with a diagnosis of testicular mass and had undergone left adrenalectomy 3 years ago with a pathologic diagnosis of myelolipoma. He also had a history of infertility due to azoospermia; hypertension and hypokalemia. After recovering of gastroenteritis and renal failure, laboratory examination revealed undetectable LH, and FSH, and very high levels of testosterone, progesterone, 17-OH-progesteron, 11-deoxycortisol, 11-deoxycorticosterone and DHEA-S, and a slightly high ACTH. He was diagnosed as congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. He was treated with dexamethasone 0.75 mg daily and after 4 weeks, most of the abnormal values returned to normal, LH and FSH became detectable, testosterone decreased to suboptimal levels. He became normotensive and normokalemic without any treatment. Myelolipoma and testicular mass (rest tissues) in this patient are probably due to metaplastic origin due to chronic stimulation by ACTH.
Conclusion: This is an interesting case presented adrenal insufficiency with congenital adrenal hyperplasia of 11β-hydroxylase.
30 Apr - 04 May 2011
European Society of Endocrinology