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- W2979743497 abstract "Background and importance: Moyamoya syndrome causes progressive stenosis of intracranial internal carotid arteries and may be associated with genetic disorders like Down’s or Turner’s syndromes. We treated a male pseudohermaphrodite patient with congenital adrenal hyperplasia (CAH) with clinical and radiological features of moyamoya vasculopathy. To our knowledge, this association has not been reported.Clinical presentation: The 42-year-old patient presented with an intraventicular bleed. Cerebral angiography revealed moyamoya vasculopathy. He was hypertensive and had primary amenorrhea. Secondary sexual characteristics were poorly developed and he had ambiguous genitalia. Breast development was Tanner stage 3. Investigation revealed hypokalemia. With primary amenorrhea, persistent hypokalemia, hypertension and ambiguous genitalia, CAH was considered as a possibility and confirmed on hormone profile. Karyotyping revealed 46XY pattern. Abdominal ultrasound revealed hyperplasia of the adrenal glands, absent uterus and ovaries and ectopic testicles in inguinal canals. He was put on steroids and his blood pressure controlled.Conclusions: To the best of our knowledge we report the first case of moyamoya syndrome occurring in association with CAH." @default.
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- W2979743497 date "2019-10-07" @default.
- W2979743497 modified "2023-09-27" @default.
- W2979743497 title "Moyamoya syndrome in a male pseudohermaphrodite patient with congenital adrenal hyperplasia – a rare association. Case report and review of literature" @default.
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- W2979743497 doi "https://doi.org/10.1080/02688697.2019.1672859" @default.
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