Delle Piane Luisa, Rinaudo Paolo F, Miller Walter L
Department of Gynecology (L.D.P.), Humanitas Clinical and Research Institute, 20089 Milan, Italy; the Departments of Obstetrics, Gynecology and Reproductive Sciences (P.F.R.), and Pediatrics (W.L.M.), and the Center for Reproductive Sciences (P.F.R. and W.L.M.), University of California, San Francisco, San Francisco, California 94143.
Endocrinology. 2015 Apr;156(4):1210-7. doi: 10.1210/en.2014-1879. Epub 2015 Jan 30.
In 1865, Luigi De Crecchio, a Neapolitan pathologist, published a detailed autopsy description of Giuseppe Marzo, who lived as a man, had nearly-normal appearing male external genitalia, female internal reproductive organs, and massively enlarged adrenals. This report is widely cited as the first report of non-salt-losing congenital adrenal hyperplasia (CAH), but a complete English translation has not been available. Via interlibrary loan, we obtained the original volume containing De Crecchio's paper. The complete 39-page publication was translated by two reproductive endocrinologists (L.D.P. and P.F.R.) who are native speakers of Italian. A pediatric endocrinologist conversant with CAH (W.L.M.) summarizes and comments on De Crecchio's observations. Anatomically, the external genitalia were characterized by labio-scrotal fusion and a 10-cm curved phallus with hypospadias. Internally, the ovaries, tubes, and uterus were hypoplastic but otherwise normal, except that the uterus inserted into a utricle. The adrenals were massively enlarged, but this observation was dismissed as unimportant. De Crecchio's exposition of Marzo's life shows many of the issues affecting patients today: family ill-ease regarding genital ambiguity at birth, social pressure following reversed sex assignment in childhood, adult embarassment about genital appearance, difficulties with a legal sex assignment on a birth certificate, and substantial efforts to exhibit maleness to self and associates. De Crecchio was an astute observer who provides insight into both nineteenth-century endocrinology and continuing twenty-first-century difficulties in the care of patients with disordered sex development.
1865年，那不勒斯病理学家路易吉·德·克雷基奥发表了对朱塞佩·马尔佐的详细尸检描述。马尔佐以男性身份生活，其男性外生殖器外观近乎正常，但内部生殖器官为女性，肾上腺则大幅增大。该报告被广泛引述为非失盐型先天性肾上腺增生（CAH）的首例报告，但一直没有完整的英文译本。通过馆际互借，我们获得了包含德·克雷基奥论文的原始卷宗。这份长达39页的完整出版物由两位以意大利语为母语的生殖内分泌学家（L.D.P.和P.F.R.）翻译。一位熟悉CAH的儿科内分泌学家（W.L.M.）对德·克雷基奥的观察结果进行了总结和评论。从解剖学角度来看，外生殖器的特征是阴唇阴囊融合以及一个10厘米长的弯曲阴茎且伴有尿道下裂。在内部，卵巢、输卵管和子宫发育不全，但除此之外均正常，只是子宫插入了一个囊状结构。肾上腺大幅增大，但这一观察结果当时被认为不重要。德·克雷基奥对马尔佐生平的阐述揭示了许多当今影响患者的问题：出生时生殖器模糊给家庭带来的不安、童年性别分配逆转后的社会压力、成年后对生殖器外观的尴尬、出生证明上合法性别分配的困难，以及向自己和他人展示男性特征的巨大努力。德·克雷基奥是一位敏锐的观察者，他为我们洞察19世纪的内分泌学以及21世纪在照顾性发育障碍患者方面持续存在的困难提供了视角。
