Myopati, hipokalemik hipertansiyon ve hipogonadism: Bir 17 alfa hidroksilaz eksikliği sendromu olgusu

Amaç: On yedi alfa hidroksilaz eksikliğine bağlı konjenital adrenal hiperplazi (46, XX) kız olguları hipokalemik hipertansiyon ve seksüel maturasyon yokluğu ile karakterizedir. Tüm konjenital adrenal hiperplazi olguların % 1’ini oluşturan bu tablo nadir görülmesi nedeni ile sunulmuştur. Olgu sunumu: On iki yaşında kız olgu kas güçsüzlüğü, hepatik disfonksiyon, ateş, hipertansiyon ve hipokalemik metabolik alkaloz ile başvurdu. Hipokalemik hipertansiyonu ve gecikmiş puberte, 17 alfa-hidroksilaz eksikliğini düşündürdü. Hormonal değerlerinden 17 alfa-hidroksilasyonu gerektiren kortizol ve seks steroidlerinin düzeyinin düşük, 17-OH progesteron ve aldosteron gibi 17-deoksisteroidlerinin ise yüksek veya normal olduğu bulundu. Batın tomografisinde, genetik yapısı (46, XX) ile uyumlu olarak, bilateral overler, fallop tüpleri ve prepubertal uterus saptandı. Sonuç: Potasyum ve antihipertansif ajanlarla destekli prendizolon tedavisi ile olgunun hipokalemi ve hipertansiyon atağı tedavi edildi. Ayrıca olgu başvurusunda pozitif Brusella serolojisi için doksisiklin ve rifampisin tedavisi aldı. Sadece glukokortikoid tedavisi ile izleme alınan olguya büyümesi tamamlandıktan sonra östrojen ilavesi planlandı.

Myopathy, hypokalemic hypertension and hypogonadism: A case report of 17 alpha-hydroxylase deficiency syndrome

Objective: Congenital adrenal hyperplasia due to 17 alpha-hydroxilase deficiency in genotypic females is characterized by hypokalemic hypertension and absence of sexual maturation. It is relatively rare condition perhaps accounting for 1% of all cases with congenital adrenal hyperplasia. Case report: Owing to its rarity we described a 12-year-old girl with muscular weakness, hepatic dysfunction, fever, delayed puberty and hypertension associated with hypokalemic metabolic alkalosis. The diagnosis of 17 alpha-hydroxilase deficiency was suspected because of hypokalemic hypertension and absence of sexual maturation. Endocrine investigation revealed low basal levels of hormones requiring 17alpha-hydroxilation such as cortisol and sex steroids and elevated or normal levels of 17-deoxy steroids, such as 17 –OH-progesterone and aldosterone. Abdominal computerized tomography scan demonstrated small size of bilateral ovaries, Fallopian tubes and prepubertal uterus conductive to her female genotype (46, XX). Administration of prednisolone supported at the beginning by potassium supply and anti- hypertensive medications led to normalization of her tension and plasma potassium levels. Conclusion: Being only on glucocorticoid replacement therapy she was completely normal during her outpatient visit later. Serology test for Brucella was positive so she was successfully treated with doxycycline and rifampin. Supplemental estrogen therapy will have been planned by the time she ends growth.

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