Disorders Of Sex Differentiation In Female Caused By Congenital Adrenal Hyperplasia: Analysis Of 8 Cases

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. CAH is clinically uncommon, its morbidity is about 1/15000 in the newborn. CAH is also called adrenal-germen syndrome. The main clinical symptoms are hypoadrenocorticism and disorders of sex differentiation, the latter include abnormality of exterior genitalia, simple masculinization, masculinization with salt-wasting or hypertension and hypopotassemia, gonadal underdevelopment, which diversed according to kind and degree of the defected enzyme. We analyzed 8 cases of CAH women in order to approach the clinical characteristic, diagnosis and treatment of disorders of sex differentiation in female caused by congenital adrenal hyperplasia. The purpose of this study is to make a further recognition of CAH so as to make early diagnosis and early treatment. MethodsWe retrospectively reviewed 2 cases of 17α-hydroxylase deficiency and 6 cases of 21- hydroxylase deficiency in the First Affiliated Hospital of Zhejiang University. The related data about clinical characteristic (age, body height, social sex, nuclear type, onset time, symptom, physical examination, treatment et al.), endocrine examination (ACTH, F, rennin, angiotonin, aldosterone, gonadal hormone, 17α-OHP, 17-KS, 17-OHCS et al.) and imageology examination (adrenal CT, gynecological and inguinal ultrasound) were collected. Analysis of clinical feature and treatment wasmade by using the collected data. ResultsThe main clinical manifestation of 17α-hydroxylase deficiency were absence of the secondary sex characteristic, 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 angiotonin, hypopotassemia, metabolic alkalosis, the levels of 17-OHCS and 17-KS were lower or near the low limit of the normal range. The main treatment of 17α-hydroxylase deficiency was glucocorticoid replacement. Different degree of virilization, pseudohermaphrodism, without hypertension and hypopotassemia were the clinical characteristic of 21-hydroxylase deficiency. The severity of disease differed according to the time of onset. The laboratory examinations included: elevated levels of ACTH, 17-OHP, 17-OHCS, 17-KS and testosterone, without hypopotassemia. Glucocorticoid replacement was also the main strategy in 21-hydroxylase deficiency and mineralocorticoid replacement was required in the salt-wasting patients. In addition to medical treatment, genitoplasty including vaginoplasty, reduction of clitoris should be performed in the right time according to the severity of disease.Conclusion17α-hydroxylase deficiency and 21-hydroxylase result in different disorders of sex differentiation, which should be noted in the differential diagnosis. Early and proper treatment could significantly reduce the harm both physically and mentally.