Testicular feminization syndrome (TFS) is a genetic disorder due to androgen insensitivity of the target organs. The most common clinical presentation of complete TFS is inguinal hernia in the infant or primary amenorrhea in the adolescence. A 7-year old phenotypically female patient was seen with a complaint of a right inguinal mass. Under the diagnosis of right inguinal hernia, high ligation was performed. Six months later, the patient showed a left inguinal mass. On operation, the mass looked like a testis. The external genitalia were normal female, but a uterus and ovary were not identified. Chromosome study showed a 46, XY karyotype and the levels of serum testosterone and dihydrotestosterone were increased after HCG stimulation. The patient was diagnosed as complete TFS and underwent bilateral gonadectomy 6 months later.

Despite of advances in perinatal management and treatment modalities congenital diaphragmatic hernia(CDH) remains a frustrating problem. Although the sheep has proven to be a reliable experimental model for the production of intrauterine CDH, the rabbit may have some advantages. These include lower cost, smaller body size, year-round availability, high number of fetuses per pregnancy, and short gestational period. To evaluate the feasibility of the rabbit model of CDH, twenty-seven pregnant New Zealand rabbits were utilized. Hysterotomy and an operative procedure for creating a diaphragmatic defect on gestational day 24 or 25, in two fetuses of each pregnant rabbit were performed. In one fetus of one cornu of the uterus, the left fetal diaphragm was excised through an open thoracotomy(DH group). In another fetus in the other cornu, CDH was created and the trachea clipped(Surgiclip, USSC, Norwalk, Conn., USA) (TL group). Delivery was by Cesarean section on 30 days of gestation. Among twenty- seven pregnant rabbits, 12 in the DH group and eight in the TL group were born alive. The most common herniated organ was the left lobe of the liver. In thee DH group, the lungs were hypoplastic with decreased lung weightlbody weight ratio, reduced numbers of alveoli, thicker media of the pulmonary arteries, and immature alveoli. In TL group, the alveoli were more mature and did not differ from the control animals. In conclusion, (1) pulmonary hypoplasia develops in the fetal rabbit diaphragmatic hernia model and (2) simultaneous tracheal ligation prevents pulmonary hypoplasia.

The association of pyloric atresia and epidermolysis bullosa(EB) in newborn is rare and inheritant as an autosomal recessive trait. We report a newborn girl with pyloric atresia and epidermolysis bullosa. Blisters were noted on her skin at birth, especially in pressure-exposed area, and later on the oral mucosa. Junctional epidermolysis bullosa was confirmed by light microscopy and electron microscopy. Radiography revealed pyloric atresia. Segmental resection of 1.5 cm and gastroduodenostomy were carried out at 4 days of age. Protein loosing enteropathy developed after oral feeding. The frequency of episodes of nonscarred blisters and the severity and duration improved significantly with time. The protein loosing enteropathy was persistent, and at 1 year of age, her growth is markedly retarded.