AJ Al-Zahrani, Adrenal Hyperplasia and Congenital Glaucoma in a Family: Report of a Rare Case. 2002; 22(3-4): [219][220] Congenital adrenal hyperplasia (CAH) is a common recessively inherited disorder of cortisol biosynthesis due to a deficiency of one of the enzymatic activities necessary for its synthesis. It has an average incidence of 1:5000, 1 the most common of which is 21-hydroxylase deficiency which represents about 95% of involved cases.1 It is usually presented by salt-losing crises in 75% of classic cases, with ambiguous genitalia in females and precocious puberty in males.Primary congenital glaucoma is also a recessively inherited disorder. A significant proportion of cases develop because of a defect in the permeability of the trabeculum to aqueous humor.2 It has an average incidence of about 0.03%, 3 and it may lead to blindness in spite of medical and surgical treatment in very severe cases. To our knowledge, this is the third reported case worldwide with both of these disease combinations.
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Case ReportA 5½-year-old girl, a product of full-term normal delivery with a birth weight of 3.4 kg., length 55 cm and head circumference of 35 cm, was found at birth to have severe bilateral congenital glaucoma and ambiguous genitalia, The deformed genitalia was in the form of large clitoris about 3 cm long, fused labioscrotal folds and no palpable gonads with normal 46 XX chromosomes. Pelvic ultrasound showed normal uterus and ovaries, and had increased urinary sodium. At two weeks of age, her serum 17-OH-progesterone was 22 ng/mL (normal<1.1 ng/mL), ACTH of twice the normal value and aldosterone of 104 ng/dL (normal 1-160 ng/dL).The patient was treated with hydrocotisone 20 mg/m 2 /day and fluodrocortisol (Flornif) with mild episodes of hyponatremia and hyperkalemia. Her blood pressure was normal, but there was no progress in the amount of virilization. She had normal growth parameters, and her weight and height were around the 25th centile with normal bone age. At five years of age, while she was off steroids for 24 hours, she had synacthen stimulation test to confirm the diagnosis of 21-hydroxylase deficiency: pre-synachen test serum 17-OH progesterone was 0.22 ng/mL, serum cortisol<0.036 µg/dL (normal morning:6.3-19.4). Sixty minutes post-synacthen, her serum 17-OH progesterone went up to 4.9 ng/mL, serum cortisol <0.036 µg/dL, and 11 desoxycortisol (compound-s) <0.5 ng/mL (normal <8), testosterone <0.02 ng/mL (normal, 0.03-0.32). With regards to her eye problem, she had severe bilateral glaucoma and had three operations, unfortunately, she lost the vision in her left eye, and had to receive anti-glaucoma treatment for the right eye.