11β‐Hydroxylase deficiency: management of a difficult case by laparoscopic bilateral adrenalectomy

Abstract

A 14-year-old girl presented with short stature and progressive virilization. She had not undergone the menarche. On investigation, she had elevated testosterone, androstenedione, dihydroepiandrosterone sulphate and 17 alpha-hydroxyprogesterone levels, which were all suppressed by overnight dexamethasone to within their normal ranges. An initial diagnosis of 21-hydroxylase deficiency was revised to 11 beta-hydroxylase deficiency after a tetracosactrin stimulation test, which showed only a modest rise in 17 alpha-hydroxyprogesterone level (from 92 nmol/l at baseline to 133 nmol/l at 60 minutes) and measurement of the basal 11-deoxycortisol, which was grossly elevated. Treatment with dexamethasone 0.5 mg nocte resulted in suppression of androgens in the daytime, but not in the evening, particularly androstenedione. Treatment with hydrocortisone 10 mg b.d. failed to suppress testosterone or androstenedione over a 24-hour period. Addition of cyproterone and oestrogen supplements had no effect and significant virilization persisted. Laparoscopic bilateral adrenalectomy was therefore performed as definitive treatment and resulted in remarkable clinical and biochemical improvement. This case illustrates difficulties in correct diagnosis, choice of appropriate steroid regimen and monitoring efficacy of treatment in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. More aggressive management with earlier bilateral adrenalectomy may be appropriate in selected cases.

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

“…To date, five case reports of 11βOHD are known where bilateral adrenalectomy has been described as a successful surgical management option in patients with poorly controlled hypertension, end-organ damage secondary to hypertension, hypokalemia and extreme features of hyperandrogenism requiring high doses of glucocorticoid replacement [40,96,205,206]. The long-term follow-up after bilateral adrenalectomy has been reported in one case that was followed until 72 months.…”

Laparoscopic Adrenalectomy

“…Laparoscopic adrenalectomy has also been used for the treatment of congenital adrenal hyperplasia. 58 The role of laparoscopic adrenalectomy in the management of patients with primary adrenal malignancies has not yet been established. However, for several reasons most endocrine surgeons recommend an open approach to the patient with a large adrenal mass that appears malignant.…”

Gec Tani Almis Komplet Virilize bir 46,XX 11-Beta Hidroksilaz Eksikligi Olgusu

“…21 hidroksilaz eksikliğinden (21 OHD) sonra ikinci sıklıkta görülen konjenital adrenal hiperplazi nedenidir. Hastalık, konjenital adrenal hiperplaziye (KAH) neden olan diğer enzim eksikliklerinde olduğu gibi otozomal resesif kalıtılır (2). 11 OHD'ye bağlı klinik bulgular, androjen öncülü olan dehidroepiandrosteron sülfatın (DHEAS) ve bir mineralokortikoid olan 11-deoksikortikosteronun (DOC) adrenal bezlerden fazla miktarda üretilmesine bağlı olarak gelişir (3).…”