17α-hydroxylase And21-hydroxylase:the Case Report And Literature Review

Background and objectiveCongenital adrenal hyperplasia (CAH) is a frequent autosomal recessive hereditary disease which is caused by congenital defect of the enzyme demanded in the synthesis of adrenal cortical hormone. Totally or partially inhibition of cortisol synthesis caused by defect of some enzymes,which involved in adrenal cortical hormone synthesis, results in compensatory elevated CRH-ACTH and in the end causes adrenocorticohyperplasia. The morbidity of these diseases is about1:15000-1:16000in the new born in Europe and American area. The main clinical symptoms are hypoadrenocorticism and disorders of sex differentiation, which diverse according to kind and degree of the defected enzyme. Here, we report a case of17a-hydroxylase deficiency and a case of21-hydroxylase deficiency, and review related literatures, in order to improve diagnosis and treatments in these diseases. MethodsWe retrospectively reviewed one case of17a-hydroxylase deficiency and one case of21-hydroxylase deficiency hospitalized in the Second Affiliated Hospital of Zhejiang University in recent two years. The related data (social sex, age, body height, physical examination, clinical manifestation, nuclear type, treatment, et al), imageology examinations (adrenal CT, gynecological and inguinal ultrasound) and endocrine examinations (ACTH, rennin, aldosterone and gonadal hormones) were collected. Analysis of clinical feature and treatment was made by using the collected data.ResultsThe main clinical manifestation of17-a hydroxylase deficiency included absent secondary sexual characteristics, primary amenorrhea hypertension, and hypopotassemia. The laboratory examinations included:diminished secretion of cortisone, increased secretion of ACTH, decreased secretion of estrogen and androgen, suppressed rennin and angiotensin, hypopotassemia. The main treatment of17a-hydroxylase deficiency was glucocorticoid replacement. The main clinical manifestation of21-hydroxylase deficiency included different degree of virilization, preudohermapmaphrodism, without hypertension and hypopotassemia. The laboratory examinations included:elevated levels of ACTH and testosterone, without hypopotassemia. The main treatment of21-hydroxylase deficiency was also glucocorticoid replacement, and mineralocorticord replacement was required in salt-wasting patients. In addition to medical treatments, reduction of clitoris, genitoplasty including vaginoplasty should be performed in the right time according to the severity of disease. Conclusion17-a hydroxylase deficiency and21-hydroxylase result in different disorders of sexual differentiation, which should be noted in the different diagnosis, Early and proper treatment could significantly reduce the harm both physically and mentally.