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. ...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.展开更多
The fast aging human population requires new approaches to reliable diagnosis and proper treatment of dementia in elderly patients with psychiatric disorders such as bipolar disorder (BD) and schizophrenia (SCZ). As c...The fast aging human population requires new approaches to reliable diagnosis and proper treatment of dementia in elderly patients with psychiatric disorders such as bipolar disorder (BD) and schizophrenia (SCZ). As compared to other psychiatric disorders, BD and SCZ are characterized by increased and similar risk for dementia as well as cerebrovascular (CVD) and Parkinson’s (PD) diseases independent of the patient’s age. There are reports in the literature suggesting BD and SCZ in older patients could cause dementia without contribution from the neurodegenerative diseases, including Alzheimer’s disease (AD), due to the absence of the known neuropathology associated with cognitive decline in such individuals. This view contradicts a plethora of data highlighting AD as a major cause of dementia in the elderly. This issue was addressed by examining postmortem cerebral pathology in an 83-year-old female diagnosed with BD, SCZ, and PD (D1) and comparing it to that of a second donor (D2), an age-matched male diagnosed with Lewy Body Dementia (LBD). Upon thorough histochemical and immunohistochemical examinations of both brains, the PD and LBD diagnoses in D1 and D2 were not confirmed. Instead, AD-related pathology was observed in both subjects with AD advancing to its clinical stage (mild to moderate) only in D1. Diffuse β-amyloid peptide 1-42 (Aβ1-42) staining, most likely reflecting a presence of the Aβ1-42 soluble form, was also detected in cerebellar neurons and cerebellar extracellular space in D1 and D2. Cerebrovascular pathology was pronounced and distinct in both brains and included amyloid angiopathy, hyaline atherosclerosis, microbleeds, and dilated Virchow Robin spaces in D1 as well as thick-walled blood vessels with microbleeds in D2. It was concluded that a mixed AD and cerebrovascular pathology could mimic Lewy Body Disease and potentially contribute to dementia development in elderly BD and SCZ patients.展开更多
文摘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.
文摘The fast aging human population requires new approaches to reliable diagnosis and proper treatment of dementia in elderly patients with psychiatric disorders such as bipolar disorder (BD) and schizophrenia (SCZ). As compared to other psychiatric disorders, BD and SCZ are characterized by increased and similar risk for dementia as well as cerebrovascular (CVD) and Parkinson’s (PD) diseases independent of the patient’s age. There are reports in the literature suggesting BD and SCZ in older patients could cause dementia without contribution from the neurodegenerative diseases, including Alzheimer’s disease (AD), due to the absence of the known neuropathology associated with cognitive decline in such individuals. This view contradicts a plethora of data highlighting AD as a major cause of dementia in the elderly. This issue was addressed by examining postmortem cerebral pathology in an 83-year-old female diagnosed with BD, SCZ, and PD (D1) and comparing it to that of a second donor (D2), an age-matched male diagnosed with Lewy Body Dementia (LBD). Upon thorough histochemical and immunohistochemical examinations of both brains, the PD and LBD diagnoses in D1 and D2 were not confirmed. Instead, AD-related pathology was observed in both subjects with AD advancing to its clinical stage (mild to moderate) only in D1. Diffuse β-amyloid peptide 1-42 (Aβ1-42) staining, most likely reflecting a presence of the Aβ1-42 soluble form, was also detected in cerebellar neurons and cerebellar extracellular space in D1 and D2. Cerebrovascular pathology was pronounced and distinct in both brains and included amyloid angiopathy, hyaline atherosclerosis, microbleeds, and dilated Virchow Robin spaces in D1 as well as thick-walled blood vessels with microbleeds in D2. It was concluded that a mixed AD and cerebrovascular pathology could mimic Lewy Body Disease and potentially contribute to dementia development in elderly BD and SCZ patients.
