150 years of congenital adrenal hyperplasia: translation and commentary of De Crecchio's classic paper from 1865.

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.