Coslovsky R, Ashkenazy M, Lancet M, Barash A, Borenstein R
J Endocrinol Invest. 1985 Feb;8(1):63-5. doi: 10.1007/BF03350643.
Data are presented concerning a case of female pseudohermaphroditism of unknown etiology. The child was born with labioscrotal fusion and clitoromegaly. From the age of 5 to the age of 25 there was no clinical evidence of a hormonal abnormality. At the age of 25 the patient presented with masculinization and Cushing's syndrome, and a left adrenal tumor was removed. The patient was restudied at the age of 29, when 21-hydroxylase deficiency was excluded. Other types of congenital adrenal hyperplasia are considered unlikely. The possible relationship between the ambiguous genitalia present at birth and the virilizing tumor diagnosed at the age of 25 is analyzed.
本文呈现了一例病因不明的女性假两性畸形病例。该患儿出生时伴有阴唇阴囊融合及阴蒂肥大。从5岁到25岁,没有激素异常的临床证据。25岁时,患者出现男性化及库欣综合征,左侧肾上腺肿瘤被切除。患者在29岁时接受复查,此时排除了21 - 羟化酶缺乏症。其他类型的先天性肾上腺增生症被认为不太可能。分析了出生时存在的生殖器模糊与25岁时诊断出的男性化肿瘤之间的可能关系。