A Rare Case of an 83‐Year‐Old Male Transgender: An Anatomical and Genetic Study

Abstract

BackgroundTransgender is a broad term which describes an individual whose gender self‐identification is different from the assigned sex at birth. When the latter becomes overwhelming and causes a significant psychological impact, the term gender dysphoria is used thereby presenting itself as an extreme case of transgenderism. The individuals with gender dysphoria often seek a medical intervention, surgical or therapeutic, to correct the existing discordance between their gender self‐identification and physical appearance.ResultsIn the current report, we describe a rare case of an 83‐year‐old male who self‐identified as a female by legally changing his first and middle names to female ones and whose death certificate states his sex as a female. Yet, an initial visual examination of the body revealed an absence of penis with a large scrotum and atrophied testes. It was an opinion of an experienced urologic surgeon that this individual most likely underwent a penectomy with perineal urethrostomy. Dissection of the pelvic cavity and perineum revealed normal male anatomy with testes, spermatic cords, ductus deferens, seminal vesicles, and prostate intact. Histological analysis of the testes and prostate revealed striking anomalies within the tissues. The seminiferous tubules had an abnormal epithelium with no germ, Sertoli, or Leydig cells present. Histological analysis of the prostate pointed to its non‐functional state whereas the gross tissue structure was more consistent with a prostate of a young adult. Yet amyloid deposits were found in the vasculature in the testes and prostate, which would support sepsis being the official cause of death. In order to gain additional insights into the current case, a genetic screen was performed by exome sequencing of DNA extracted from the embalmed cadaveric tissue using the Next Generation Sequencing (NGS) Illumina platformConclusionThe available personal information pertinent to the examined body identifies this individual as a transgender. The results of the genetic screen will help to define this case further by establishing a probable cause for penectomy and choosing between two most obvious alternatives; an elective surgery for the correction of gender discordance or a surgery associated with penile or urethral cancer. Yet, the genetic screen could also indicate an impaired hormonal production and/or signaling that would explain the observed testicular and prostatic atrophies. If not, the latter could be caused by a chemical castration. Overall, all those data will help to assess the severity of the current case of transgenderism and its possible progression to gender dysphoria.Support or Funding InformationCenter for Anatomical Science and Education, Department of Surgery, Saint Louis University School of MedicineThis abstract is from the Experimental Biology 2019 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.