Akhtar Nosheen, Hayat Zartaj, Bari Arifa
Department of Obstetrics and Gynaecology, Foundation University Medical College /Fauji Foundation Hospital Rawalpindi, Pakistan.
J Ayub Med Coll Abbottabad. 2018 Jul-Sep;30(3):458-462.
Non-classic congenital adrenal hyperplasia is a genetic condition caused by deficiency of 21- hydroxylase deficiency (NCAH). It is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. We present four cases of non-classical congenital adrenal hyperplasia presented in gynae OPD foundation university medical college Fauji foundation hospital from Jan 2016 to March 2017. The presenting complaints were hirsuitim, menstrual problem and virilization of genitalia. Two girls were having primary amenorrhea while rests of two were having secondary amenorrhea. Two patients were already diagnosed as non-classical congenital adrenal hyperplasia due to ambiguous genitalia at the time of birth while the rest of two with marked clitoromegaly were diagnosed during workup in gynae OPD. Menarche was achieved successfully among those with primary amenorrhea after treatment. All four girls were referred to plastic surgery for clitoral reduction surgery. The post-surgery patient satisfaction level was high. Correct diagnosis of the disease can cure the patient instead of letting her live a life of being labeled with social stigmata of an intersex individual.
非经典型先天性肾上腺皮质增生症是一种由21-羟化酶缺乏引起的遗传性疾病（NCAH）。它是先天性肾上腺皮质增生症这种遗传性疾病的一种症状较轻且发病较晚的类型。我们呈现了2016年1月至2017年3月在法吉基金会医院基础大学医学院妇科门诊出现的4例非经典型先天性肾上腺皮质增生症病例。主要症状为多毛症、月经问题和生殖器男性化。两名女孩原发性闭经，另外两名继发性闭经。两名患者因出生时生殖器模糊已被诊断为非经典型先天性肾上腺皮质增生症，而另外两名阴蒂明显增大的患者是在妇科门诊检查期间确诊的。原发性闭经患者经治疗后成功月经初潮。所有四名女孩均被转诊至整形外科进行阴蒂缩小手术。术后患者满意度较高。正确诊断该疾病可以治愈患者，而不是让她背负双性人的社会耻辱标签度过一生。
