Abstract
In the current report, we describe an 83-year-old biological 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. The medical history of this individual indicated complete penectomy without further specification. Postmortem physical examination revealed an absence of penis with a large scrotum, transposed urethral orifice, and small testes. The histological analysis of the testes identified abnormal epithelium in the seminiferous tubules that lacked germ and Sertoli cells as well as the interstitium without Leydig cells present. The exome sequencing of the individual’s DNA using the Next Generation Sequencing (NGS) Illumina platform revealed no genetic variants associated with either penile or urethral cancer that could have explained the complete penectomy, but pointed toward a potentially impaired production of T3 and T4 thyroid hormones which could account for the observed testicular malformation. Overall, the data obtained raise an important question as to whether the thyroid hormone axis could be an important part of the hormonal architecture supporting male sexual behavior.
Highlights
We describe an 83-year-old biological male who selfidentified as a female by legally changing his first and middle names to female ones and whose death certificate states his sex as a female
The RYR3 variant was identified in the Han Chinese population with gender dysphoria (GD) [4] and CYP17 single nucleotide polymorphism was linked to female-to-male TGism [5] whereas a common SRD5A2 polymorphism has been shown recently to be benign in TGism (ClinicalTrials.gov Identifier: NCT00435513)
A body of an 83-year-old individual with the male sex assigned at birth was received through the Gift of Body Program at the Center for Anatomical Science and Education (CASE) of the Saint Louis University (SLU) School of Medicine, USA
Summary
When the latter becomes overwhelming and causes a significant psychological impact, the term gender dysphoria (GD) is used thereby presenting itself as an extreme case of TGism. The RYR3 variant was identified in the Han Chinese population with GD [4] and CYP17 single nucleotide polymorphism was linked to female-to-male TGism [5] whereas a common SRD5A2 polymorphism has been shown recently to be benign in TGism (ClinicalTrials.gov Identifier: NCT00435513) Chromosomal aberrations, such as in Klinefelter syndrome (47, XXY), could be responsible for GD in some individuals since a 1.13% frequency of patients with Klinefelter syndrome was found in GD population [6]
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