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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.

In 1955, a paradigm shift in the conception of sex is said to have taken place, when psychologist John Money at Johns Hopkins's Pediatric Endocrinology Clinic argued that 'hermaphroditic' children could be assigned a sex contradictory to their biological sex. Rather than being born male or female, he claimed, these children learned to be boys or girls. Money was subsequently credited the invention of the term gender role. However, Money only confirmed a practice that was established at the clinic several years before his intervention. The clinic's director Lawson Wilkins (1894-1963) had already recommended that certain children, virilized by congenital adrenal hyperplasia, should be raised in the male sex, even though they were by all medical standards of the time female. What mattered for him was assigning the sex that seemed 'better' for these children. What constituted the 'better sex' was contingent on the child's psyche and habitus, social expectations, and on the range of medical and surgical interventions available at the time., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

A number of studies in the history of endocrinology makes reference to two pediatric cases from the early 19th century which are commonly seen as containing the earliest descriptions of the adrenogenital syndrome substantiated by post-mortem findings. Their authors, in addition to being considered the first to furnish an exact description of the symptoms involved, are also occasionally credited with having been aware of the underlying causes of this disorder, i.e. the interaction between the adrenal cortex and the genitalia. The present study demonstrates that this opinion is not founded on facts. Furthermore, a retrospective analysis of the pathological details seemingly irreconcilable with this condition may in fact be explained as resulting from imperfect embryonic development.