Gender affirmative care of transgender people: a single center's experience in Korea.

OBJECTIVE: To investigate the clinical characteristics and medical management of transgender people in South Korea. METHODS: The electronic medical records of 54 transgender persons who had visited Soonchunhyang University Hospital from January 2016 to December 2017 for medical care were retrospectively reviewed. We identified patient demographics and gender identity-related characteristics. Moreover, we compared our hospital protocol with official guidelines. RESULTS: At the time of the medical record search, the average age of these 52 transgender persons was 27 years, and 46 (88.5%) were Korean. Ten (19.2%) persons had a mental disorder other than gender dysphoria. Gonadotropin-releasing hormone agonist, estrogen, antiandrogen agents, and testosterone were used according to the guidelines issued by the World Professional Association for Transgender Health and the Endocrine Society. Ten (19.2%) transgender persons, including 6 (22.2%) male-to-females (MTFs) and 4 (16.0%) female-to-males (FTMs), had a mental disorder other than gender dysphoria. Among persons who were administered testosterone, 3 had high triglyceride and lipoprotein cholesterol levels. Nine patients, including 6 (66.7%) MTFs and 3 (33.3%) FTMs, underwent both gonadectomy and gender affirmative surgery. Seven (43.8%) persons, including 1 (14.3%) MTF and 6 (85.7%) FTMs, underwent only gonadectomy. There was a significant difference (P=0.040) between MTFs and FTMs. CONCLUSION: Medical providers should have adequate knowledge of and experience in managing transgender persons and be familiar with the relevant guidelines and literature. Long-term follow-up examinations should also be performed.

A basic helix-loop-helix 104 (bHLH104) protein functions as a transcriptional repressor for glucose and abscisic acid signaling in Arabidopsis.

Transduction of glucose (Glc) signaling is critical for plant development, metabolism, and stress responses. However, identifying initial Glc sensing and response stimulating mechanisms in plants has been difficult due to dual functions of glucose as energy sources and signaling component. A basic Helix-Loop-Helix 104 (bHLH104) protein is a homolog of bHLH34 previously isolated from Arabidopsis that functions as a transcriptional activator of Glc and abscisic acid (ABA) responses. In this study, we characterized bHLH104 as a transcription factor that binds to the regulatory region of Arabidopsis Plasma membrane Glc-responsive Regulator (AtPGR) gene. The bHLH104 binds to 5'-AANA-3' element of the promoter region of AtPGR in vitro and represses beta-glucuronidase (GUS) activity in AtPGR promoter-GUS transgenic plants. Genetic approaches show that bHLH104 positively regulates Glc and abscisic acid (ABA) response. These results suggest that bHLH104 is involved in Glc- and ABA-mediated signaling pathway. Taken together, these findings provide evidence that bHLH104 is an important transcription regulator in plant-sensitivity to Glc and ABA signaling.

Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis.

Germline mutations within the adenomatous polyposis coli (APC) gene are associated with familial adenomatous polyposis (FAP), an autosomal dominant disease predisposing individuals to colorectal cancer. Identification of APC mutations has important implications for genetic counseling and management of FAP patients. We examined the APC mutation status of 10 Korean FAP patients by polymerase chain reaction-direct sequencing method and found six APC mutations, including three novel mutations. Testing for MUTYH mutation was done for FAP patients in whom no mutation in the APC gene was identified. Three novel mutations (c.1654_1663delTCTTGGCGAG, c.3709C>T, and c.6092_6094delinsTT) and three previously reported mutations (c.3631_3632delAT, c.4438C>T, and c.4612_4613delGA) were detected. The MUTYH mutation was not detected in any of the four FAP patients without an APC mutation. This finding of three novel mutations in a group of Korean FAP patients broadens the spectrum of APC mutations.

A case of histiocytic sarcoma diagnosed by bone marrow biopsy in a patient suffering from fever for 8 months.

Histiocytic sarcoma is a malignant proliferation of cells showing morphologic and immunophenotypic features similar to those of mature tissue histiocytes and is known for its rapid progression and poor prognosis. We describe a case of histiocytic sarcoma diagnosed by bone marrow biopsy. A 64-yr-old male was admitted for fever and weight loss that persisted for 8 months. The patient died undiagnosed on the 7th hospitalization day. A bone marrow biopsy performed just before the patient's death revealed diffuse proliferation of large pleomorphic neoplastic cells with large, round to oval nuclei, vesicular chromatin, and abundant foamy cytoplasm. These cells were positive for histiocytic markers, CD68, lysozyme, CD21, and S-100 protein, but negative for B-cell, T/NK-cell, and epithelial cell markers, thus confirming the presence of histiocytic sarcoma.