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We report here a case study of 17α-hydroxylase deficiency in a phenotypic girl with male karyotype (46,XY). We also review the relevant literature to deepen our understanding of the disease, reduce the rate of missed diagnosis, and emphasize that holistic management of this disease requires collaborative multidisciplinary teamwork. A 14-year-old patient with a female phenotype visited the endocrinology department because of hypertension. The patient had primary amenorrhea and lacked secondary sexual characteristics. Initial laboratory e
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