A case study of congenital adrenal hyperplasia

R. Kamat, Upendra Chaudhary, Sangita Trivedi
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Abstract

Congenital adrenal hyperplasia (CAH) is a rare condition with a variety of symptoms. The most serious “salt losing” scenario is a medical emergency. A lack of 21 a-hydroxylase causes more than 90% of cases of CAH (21aOH). The adrenals produce excess sex hormones rather than cortisol. The vast majority of patients are unable to produce enough aldosterone. Girls are virilized, there is rapid somatic growth with the early epiphyseal fusion in both sexes, and there is even life-threatening hyponatremic dehydration. The following case report evaluates the clinical features, signs, and symptoms of CAH. A 1-day-old baby was admitted to the Neonatal Intensive Care Unit at the Department of Pediatrics, New Civil Hospital, Surat, for ambiguous genitalia. Various studies were conducted, and karyotyping suggestive of 46xx 17OH progesterone decreased. The sodium level was 114.64 mmol and the potassium level was 4.81 mmol on electrolyte analysis. CAH is an autosomal recessive disorder, in which 21-hydroxylase deficiency is the most common cause. In children, hydrocortisone is the preferred treatment.
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先天性肾上腺增生1例
先天性肾上腺增生症(CAH)是一种罕见的疾病,有多种症状。最严重的“盐流失”情况是医疗紧急情况。超过90%的CAH (21aOH)病例是由于缺乏21 A -羟化酶引起的。肾上腺分泌过多的性激素,而不是皮质醇。绝大多数患者无法产生足够的醛固酮。女孩是男性化的,两性都有快速的躯体生长和早期的骨骺融合,甚至有危及生命的低钠性脱水。以下病例报告评估了CAH的临床特征、体征和症状。一个1天大的婴儿住进新生儿重症监护室儿科,新民事医院,苏拉特,不明生殖器。进行了各种研究,核型提示46xx 17OH黄体酮减少。电解质分析钠含量为114.64 mmol,钾含量为4.81 mmol。CAH是一种常染色体隐性遗传病,其中21-羟化酶缺乏是最常见的原因。对于儿童,氢化可的松是首选的治疗方法。
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