Dr. Saima Aziz Siddiqui, MBBS, MCPS, FCPS, Assistant Professor, Department of Obstetrics & Gynaecology, Dow University of Health Sciences & Civil Hospital Karachi, Karachi, Pakistan.
Dr. Nargis Soomro, MBBS, DA, FCPS, FRCOG, Professor, Department of Obstetrics & Gynaecology, Dow University of Health Sciences & Civil Hospital Karachi, Karachi, Pakistan.
Pak J Med Sci. 2013 Jan;29(1):220-3. doi: 10.12669/pjms.291.2830.
Congenital adrenal hyperplasia (CAH) is a rare congenital disorder, which in cases of female genotype may result in virilization. Specific enzyme deficiencies in adrenocorticoid hormones biosynthetic pathway lead to excess androgen production causing virilization. Classic type presents early in infant life as salt losing or simple virilizing type, whereas non classic form presents late at puberty or in adult life. Depending on the type of classic CAH, type of adrenocorticoid deficiency, extent of virilization & genotype, surgical corrective procedures, glucocorticoid & mineralocorticoid replacement therapy are the mainstay of management. We present here a case of classic congenital adrenal hyperplasia of simple virilizing type, which presented later in childhood.
先天性肾上腺皮质增生症（CAH）是一种罕见的先天性疾病，女性基因型可能导致男性化。肾上腺皮质激素生物合成途径中的特定酶缺乏导致雄激素产生过多，导致男性化。经典型在婴儿期表现为盐丢失或单纯男性化型，而非经典型则在青春期或成年期表现。根据经典 CAH 的类型、肾上腺皮质激素缺乏的类型、男性化的程度和基因型，手术矫正、糖皮质激素和盐皮质激素替代治疗是主要的治疗方法。我们在此介绍一例经典的单纯男性化型先天性肾上腺皮质增生症，该病例在儿童后期出现。
