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.
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