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以严重高血压就诊的17α-羟化酶缺乏症
17α-Hydroxylase deficiency with severe hypertension as the initial symptom in a child
患儿，女（社会性别），14岁，因发现高血压11 d入院。患儿无月经来潮。查体：血压146/90 mm Hg，肤色略黑，乳腺未发育，可见大阴唇，未见小阴唇、阴蒂、阴道及处女膜。实验室检测发现低肾素、低皮质醇、高促肾上腺皮质激素，低性激素、高促性腺激素，血钾、醛固酮未见异常；影像学提示骨龄落后，无卵巢、子宫，双侧肾上腺皮质增生，双侧腹股沟区隐睾。染色体核型46，XY。全基因组测序提示：CYP17A1外显子区域2个纯合突变，c.985T > C（胸腺嘧啶突变为腺嘌呤）和c.987delC （缺失突变），父母存在上述2个位点的杂合突变。确诊为先天性肾上腺皮质增生症17α-羟化酶缺乏症。给予氢化可的松治疗2个月后血压恢复正常，ACTH下降，继续氢化可的松治疗，并应患儿及父母要求按女性治疗，加用雌激素替代，手术切除隐睾。儿童高血压的鉴别诊断也应注意儿童性发育情况，筛查ACTH和皮质醇，以免误诊；对低肾素性高血压伴性发育落后者应注意鉴别罕见病17α-羟化酶缺乏症。
A 14-year-old female (social gender) patient was admitted to the hospital due to severe hypertension for 11 days. The patient had primary amenorrhea. The blood pressure was 146/90 mm Hg. The skin color was slightly black. The development of secondary sexual characteristics was poor. The labia majora could be observed in the vulva. However, the labia minora, clitoris, vagina, and hymen were absent. The levels of renin, cortisol, and sex hormone were low, while the levels of adrenocorticotropic hormone and gonadotropin were high. The levels of blood potassium and aldosterone were both normal. Radiography indicated retardation of bone age. Ultrasound examination revealed that the ovary and uterus were both absent. The patient had bilateral adrenal hyperplasia and cryptorchid testes located in both inguinal canals. The patient had a 46,XY karyotype. Whole genome sequencing revealed two homozygous mutations, c.985T > C and c.987delC, in exon 6 of the CYP17A1 gene of the patient and heterozygous mutations in the same sites of the parents. The patient was diagnosed with congenital adrenal hyperplasia-17α-hydroxylase deficiency. After treatment with hydrocortisone for 2 months, blood pressure returned to normal and the level of adrenocorticotropic hormone was reduced. According to the request of the patient and the parents, hydrocortisone was replaced with estrogen to allow the patient to live as a female. The patient also received surgical excision of cryptorchid testes to prevent gonadal malignancy. It is concluded that in the differential diagnosis of pediatric hypertension, sexual development should be considered and the levels of adrenocorticotropic hormone and cortisol should be evaluated. The rare disease 17α-hydroxylase deficiency should be considered for patients with low-renin hypertension and gonadal dysgenesis.
17α-羟化酶缺乏症 / 高血压 / 先天性肾上腺皮质增生症 / 儿童
17α-Hydroxylase deficiency / Hypertension / Congenital adrenal hyperplasia / Child
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