title: 150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865.
abstract: 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.
authors: 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.
authors: Luisa
authors: L
authors: Delle Piane
authors: Paolo F
authors: PF
authors: Rinaudo
authors: Walter L
authors: WL
authors: Miller
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000266:history*; D049672:History, 19th Century; D006801:Humans; D014177:Translations