Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.

Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.

A Case of Pancreatic Pseudocyst Resolved by Transpapillary Drainage via the Main Pancreatic Duct / 대한소화기내시경학회지

A 68-year-old man was admitted due to abdominal pain. He was diagnosed as having recurrent pancreatitis with a pseudocyst, which is communicated through the main pan- creatic duct. An endoscopic pancreatic sphincterotomy and insertion of a nasopancreatic tube into the main pancreatic duct via transpapillary drainage were performed. As a result, the pseudocyst disappeared and the pain was relieved. Thus it was concluded that transpapillary drainage via the main pancreatic duct is a safe and effective treatment for pancreatic pseudocysts, which is communicated through the main pancreatic duct.

A Case of Recurred Primary Mediastinal Nonseminomatous Germ Cell Tumor Associated with Klinefelters Syndrome / 결핵

Primary mediastinal nonseminomatous germ cell tumor associated with Klinefelter's syndrome is a rare disorder. We experienced a case of recurred primary mediastinal nonseminomatous germ cell tumor developed in a 24-year-old patient with Klinefelter's syndrome. The patient had been treated with surgery and combination chemotherapy under the diagnosis of primary mediastinal nonseminomatous germ cell tumor before. A round mass was found on the right lower lung field in the chest X-ray during follow up. The patient was diagnosed as recurred primary nonseminomatous germ cell tumor and Klinefelter's syndrome through tumor markers, peripheral blood karyotyping, and other tests including hormonal assay and was treated with combination chemotherapy and surgery again. When the patient is diagnosed as primary mediastinal nonseminomatous germ cell tumor, Klinefelter's syndrome and hematologic malignancies should be considered to be associated diseases and vice versa.

Epidemiology of hip fractures / 대한정형외과학회잡지

No abstract available.

Relationship between Neural Canal Impingement and Neurologic Status after Thoracolumber Burst Fractures / 대한정형외과학회잡지

In the assessment of thoracolumbar fractures, computed tomography (CT) is superior to other imaging modalities especially when a more definitive assessment of the posterior elements of the spine or the neural canal is desired. We evaluated 55 patients with acute thoracolumbar burst fractures, and correlated the amount of neural canal impingement (NCI), demonstrated on computed tomographic scans, with each patients neurologic status, level of injury and extent of recovery when neural deficit was present. The results were as follows ; l. Average NCI was significantly higher in cases with neurologic deficits (57.3%) than in cases with no deficit (29.8%). But the range of NCI was much overlapped between the two groups (32-100% with deficits vs. 8-69% with no deficit). 2. In cases with neurologic deficits, average NCI was significantly higher in lumbar spine (75.0%, range; 61-100%) than in thoracolumbar spine (49.2%, range; 32-87%). 3. There was no neurologic deficit in cases with NCI less than 30% in thoracolumbar spine and less than 60% in lumbar spine. 4. In thoracolumbar spine, there was more significant relationship between NCI and patient's neurologic status in T12 than in Ll. 5. The NCI did not directly correlate with the extent of recovery of neurologic deficits when present.

Results of Surgical Treatment of Patellar Fractures: With Tension Test for the Rigidity of Fixation Methods / 대한정형외과학회잡지

The patella is an important component of the extensor mechanism of the knee. It serves to increase the mechanical advantage of the quadriceps muscle by increasing its lever arm. Therefore, if possible, when the patella is fractured, it should be repaired rather than excised. Present surgical techniques for the patellar fractures utilizes principles of anatomic reduction with repair of any associated retinacular tears, rigid internal fixation, and early institution of joint motion exercises. To compare the efficacies of the commonly used wiring techniques, we performed tension tests with transversely bisected patellar models fixed with circumferential wiring, Magnuson wiring, modified tension band wiring and modified tension band wiring combined with circumferential wiring. Also, we reviewed 66 surgically treated patellar fractures from Jan. 1984 to Dec. 1988, when we had given every effort to preserve the patella using modified tension band wiring or modified tension band wiring combined with circumferential wiring. l. According to the results of the tension tests, modified tension band wiring and Magnuson wiring were more rigid than circumferential wiring and the rigidity of modified tension band wiring was much increased when combined with circumferential wiring. 2. Of the 66 cases, 46 cases were treated with modified tension band wiring combined with circumferential wiring, and the remainder were treated with modified tension band wiring. 3. On the whole, good and excellent results were achieved in 87.9% (58 cases). Unsatisfactory results were obtained in 15.0% of cases treated with modified tension band wiring and in 10.9% of cases treated with modified tension band wiring combined with circumferential wiring. 4. Most of the unsatisfactory cases were so severely comminuted that could not be achieved anatomic reduction, rigid internal fixation and early joint motion exercises.