A novel homozygous mutation p.E25X in the HSD3B2 gene causing salt wasting 3β-hydroxysteroid dehydrogenases deficiency in a Chinese pubertal girl: a delayed diagnosis until recurrent ovary cysts / 中华儿科杂志

<p><b>OBJECTIVE</b>3β- hydroxysteroid dehydrogenase deficiency (3βHSD), a rare form of congenital adrenal hyperplasia (CAH) resulted from mutations in the HSD3B2 gene that impair steroidogenesis in both adrenals and gonads. We report clinical features and the results of HSD3B2 gene analysis of a Chinese pubertal girl with salt wasting 3βHSD deficiency.</p><p><b>METHOD</b>We retrospectively reviewed clinical presentations and steroid profiles of the patient diagnosed in Guangzhou Women and Children's Medical Center in 2013. PCR and direct sequencing were used to identify any mutation in the HSD3B2 gene.</p><p><b>RESULT</b>A 13-year-old girl was diagnosed as CAH after birth because of salt-wasting with mild clitorimegaly and then was treated with glucocorticoid replacement. Breast and pubic hair development were normal, and menarche occurred at 12 yr, followed by menstrual bleeding about every 45 days. In the last one year laparoscopic operation and ovariocentesis were performed one after another for recurrent ovary cysts. Under corticoid acetate therapy, ACTH 17.10 pmol/L (normal 0-10.12), testosterone 1.31 nmol/L (normal <0.7), dehydroepiandrosterone sulfate 13.30 µmol/L (normal 0.95 - 11.67), cortisol 720 nmol/L (normal 130-772.8), androstenedione, 17-hydroxyprogesterone and progesterone were normal. Estradiol 461 pmol/L, follicle-stimulating hormone 3.04 IU/L, luteinizing hormone 8.52 IU/L in follicular phase. A pelvic ultrasound showed lateral ovaries cysts (58 mm × 50 mm × 35 mm) and a midcycle-type endometrium. A novel nonsense mutation c.73G >T (p.E25X) was identified in HSD3B2 gene. The girl was homozygous and her mother was heterozygous, while her father was not identified with this mutation.</p><p><b>CONCLUSION</b>A classic 3βHSD deficiency is characterized by salt wasting and mild virilization in female. Ovary cysts may be the one of features of gonad phenotype indicating ovary 3βHSD deficiency. A novel homozygous mutation c.73G >T(p.E25X) was related to the classical phenotype.</p>

Lapascopic abdominoperineal resection in the treatment of rectal carcinoma-long-term results of 9 cases / 中国微创外科杂志

Objective To analyze perioperative process, oncologic state and prognosis of patients with rectal carcinoma treated by lapascopic abdominoperineal resection. Methods 9 cases of rectal carcinoma treated by lapascopic abdominoperineal resection were reviewed retrospectively from December 1993 to February 1996. Results The median age was 50y(30y～67y), median follow-up time 80 months(40m～90m) and median operative time 6h (4 5h～7 5h). 9 cases were operated on by standard radical operation, including abdominal procedures under laparoscope in 8 cases and under the help of mini-incision in 1 case.Complications occurred in 4 cases, including subcutaneous emphysema and urine detention, iliac vein injury, deep vein thrombosis and part mucous necrosis, and perineal wound infection in 1 case respectively. The median number of lymph nodes in the specimen was 13(4～25). 6 patients survived and 3 ones died with the survival rate at 5-year being 77.8%. Conclusions Lapascopic abdominoperineal resection in the treatment of rectal carcinoma is feasible, and it can meet the tumor resection requirements of open radical operation.

Treatment of hepatolithiasis by combination of stricture repairment and partial hepatectomy preserving a subcutaneous blind bowel loop / 中国普通外科杂志

Objective To enhance therapeutic effects of hepatolithiasis by improving surgical procedures. Methods Forty eight patients suffering from hepatolithiasis with bile duct stricture were treated in this study, in whom 27% (13/48) of the stone was located in the left lobe, 19% (9/48) in the right, and 54% (26/48) in bilateral lobe. Stone coexisted with stricture in 71% (34/48). Hepatic duct and stricture were opened, making a basin at the porta, and repaired by one end of a segment of jejunum. The other end was set subcutaneously. At the same time, a portion of the liver habouring stone was resected. Results Forty four out of 48 patients were followed up (92%) with an average of 5 years. The rate of recurrent stone was 20% (9/44), the rate of cholangitis was 16% (7/44), and 84% of cases fared very well. Postoperatively, 7 cases underwent lithotomy by choledochoscope through the subcutaneous blind loop. Conclusion This procedure decreases the relapsing cholangitis effectively.