CONGENTIAL ADRENAL HYPERPLASIA DISSECTED: This drawing by pathologist Luigi De Crecchio, originally published in “A Case Report of Masculine Appearance in a Woman” in the journal Il Morgagni in 1865, shows the longitudinal views of the pelvis of a man named Giuseppe Marzo, and represents the first recorded anatomical report of congenital adrenal hyperplasia, a group of genetic disorders that can alter genital development and cause sexual ambiguity. In Marzo’s case, De Crecchio noted the presence of a penis and male urinary tract (5, 24), the absence of testicles, and the presence of underdeveloped ovaries (20) and fallopian tubes (19), a uterus (14), and a vagina (10).COURTESY OF WALTER MILLERIn 1865, Italian pathologist Luigi De Crecchio assisted with an unusual autopsy at the Hospital of the Incurables in Naples. Intrigued by what he had learned about the life of the 44-year-old man who had died of unknown causes, De Crecchio thought the internal organs might offer some insight. Early in the autopsy, his curiosity was rewarded by observing anatomical characteristics that, up until then, had been all but ignored in the medical literature.
Giuseppe Marzo was born a healthy baby girl in 1820. Although his mother noticed something odd about his genitalia at three months, Marzo continued to be raised as a girl until the age of four, when a surgeon pronounced that he was actually a boy whose testes had not descended. It would take another 40 years and an autopsy for the correct diagnosis to be made: congenital adrenal hyperplasia (CAH), a catchall term for genetic mutations that cause abnormal production of hormones by the adrenal glands, including hormones involved in genital development.
“Diseases of sexual development are actually rather common,” says Walter Miller, who specializes in pediatric endocrinology at the University of California, San Francisco, and who coauthored the first complete English translation of De ...
