Gender and Cortisone: Clinical Practice and Transatlantic Exchange in the Medical Management of Intersex in the 1950s.

This article complicates the history of the standardization of intersex case management developed at the Johns Hopkins Hospital in the 1950s by focusing on clinical practices and logics and the transatlantic circulation of knowledge. Using patient records and published studies, I follow the exchanges between pediatric endocrinologists Lawson Wilkins (Pediatric Endocrinology Clinic, Baltimore) and Andrea Prader (University Children's Hospital, Zürich) on cortisone treatment for children with congenital adrenal hyperplasia (CAH), on psychosexuality and gender role, on choosing and changing the sex of intersex children, and on genital surgery. I argue that a focus on the transatlantic exchanges between these two clinics illuminates a more complex genealogy of modern intersex case management. It also provides insight into how physicians understood their clinical practice and sheds light on the messiness and pragmatic contingencies of what only in retrospect appears to have been a consistent treatment regime.

The next 150 years of congenital adrenal hyperplasia.

Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in cortisol biosynthesis. Substantial progress has been made since the description of the first report, 150 years ago. This article reviews some of the recent advances in the genetics, diagnosis and treatment of CAH. In addition, we underline the aspects where further progress is required, including, among others, better diagnostic modalities for the mild phenotype and for some of the rare forms of disease, elucidation of epigenetic factors that lead to different phenotypes in patients with identical genotype and expending on treatment options for controlling the adrenal androgen excess.

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.

From 'following the push of nature' to 'restoring one's proper sex'--cortisone and sex at Johns Hopkins's Pediatric Endocrinology Clinic.

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.

Historical milestones in endocrinology.

The 1865 volume of the "II Morgagni", one of the most important Italian medical journals of the 19th century, presented two important articles, milestones for further scientific studies in the field of sexual differentiation. One was the original description of the "ramified cells" of testicular tubules by E. Sertoli, known today as Sertoli cells. The other was the first report and description of a patient with ambiguous genitalia, huge hyperplastic adrenal glands and salt-wasting symptoms: a true case of congenital adrenal hyperplasia, a disease well delineated only 80 yr later. Sertoli, although young (22 yr old) and inexperienced, was absolutely sure of his observation, also against the opinion of other important anatomists. He described different ways of presentation of these cells, hypothesized on their supportive and nutritive functions, but not on any endocrine function at that time. The second article was written by L. De Crecchio, a Professor of Forensic Medicine, and was the detailed description of the clinical, psychological and autoptic features of a female patient with severe ambiguous genitalia, who today would be diagnosed as having congenital adrenal hyperplasia probably due to 21-hydroxylase deficiency. This article gives, still today, important news on the clinical, psychological and social outcome of these patients before the possibility of therapy.

[2 early case reports of adrenogenital syndrome. (Bevern and Romhild (1802)--Telesius (1803))]. / Zwei frühe Fallbeschreibungen des adrenogenitalen Syndroms. (Bevern und Romhild (1802)--Tilesius (1803)).

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.

How to learn from patients: Fuller Albright's exploration of adrenal function.

Fuller Albright (1900-1969) was acknowledged as the preeminent clinical and investigative endocrinologist of his day by many of his contemporaries, but his many achievements are all but unknown to the present generation of physicians. This article describes how he used his clinical knowledge and a few tools--the measurement of urinary 17-ketosteroid excretion and the administration of methyltestosterone--to elucidate the major hormonal functions of the adrenal cortex and to clarify the pathophysiology of the Cushing syndrome. In addition, in a tour de force of clinical reasoning, he predicted, 5 years before the event, the discovery of a hormone that would reverse the endocrinologic abnormalities of congenital adrenal hyperplasia. Fittingly, he and pioneer pediatric endocrinologist Lawson Wilkins were the first to treat this disease successfully with cortisone.