We experienced a case of Turner variant in 17 year old girl. She showed normal appearance except short stature. The patient was born at term with a birth weight of 2200g and her height was below the 3 percentile at admission. Thelarche appeared at the age of 13 years. FSH and LH levels were elevated, estradiol was within normal range, but progesterone level was decreased, bone age was 14 to 15 year old, and the small sized uterus was detected by abdominal ultrasonogram. Karyotype analysis revealed 46,XXp+(Xqter-->Xp22::Xp22-->Xqter). Her height didn't grow properly despite serial growth hormone therapy, because her epiphyseal growth plate was nearly closed.
Adolescent ; Birth Weight ; Estradiol ; Female ; Growth Hormone ; Growth Plate ; Humans ; Karyotype ; Progesterone ; Reference Values ; Turner Syndrome ; Ultrasonography ; Uterus

No abstract available.
DNA* ; Uterine Cervical Neoplasms*

No abstract available.
alpha-Fetoproteins* ; Amniotic Fluid* ; Female ; Humans ; Pregnancy ; Pregnancy Trimester, Second* ; Pregnancy*

BACKGROUND: The skin changes of X-linked recessive ichthyosis are cnused by the deficiency of the enzyme steroid sulfatase, which usually results from deletions of this gene in Caucasian populations. OBJECTIVE AND MEHTODS: To disgnose X-linked recessive ichthyosis and detect its carrier, we have investigated distinctive gene deletion and measured gene dosage of steroid sulfatase gene by southern blot hybridization in Korean patients with X-linked recessive ichthyosis. RESULTS: Patients from 8 of 9 unrelated families exhibited deletions, if the steroid sulfatase gene. Of 6 families showing a family history compatible with X-linked recessive inheritance, One family exhibited a normal pattern of hybridization. All but one family showed deletion of steroid sulfatase gene. All three patients lacking a fami1y history of the disease exhibited gene deletions. The ratio of the steroid sulfatsse specific band density to the Factor VIII specific band density was measured in 8 obligate carriers using a laser densitometer. The average ratio exhibited by the car riers was less than half that of normal women. Conclusian: These results suggest that the X-linked recessive ichth osis patient and its carrier can also be diagnosed and detected by Southern blot hybridization of steroid sulfatase gene in Korea.
Blotting, Southern* ; Diagnosis* ; Factor VIII ; Female ; Gene Deletion ; Gene Dosage ; Humans ; Ichthyosis* ; Korea ; Skin ; Steryl-Sulfatase ; Wills

No abstract available.

No abstract available.
Female ; Ovary*

Schilder’s disease is a rare sporadic demyelinating disease of the brain. We report a girl with Schilder’s disease who had undergone Kasai operation for biliary atresia. The patient presented with acute right hemiparesis. Brain magnetic resonance imaging (MRI) showed a single large tumefactive white matter lesion. A diagnosis of Schilder’s disease was based on clinical features and MRI findings. The patient showed dramatic clinical improvement and significant regression of the lesion in response to high-dose intravenous methyl prednisone, and remained free of relapse of other neurologic problems during the 3-year follow-up.

Ganglion cyst of the spinal facet joint is rare. It is believed that ganglion cysts on the dorsal aspect of the facet joints are asymptomatic and therefore are not clinically appreciated. But we have experienced a patient who had severe low-back and buttock pain and diagnosed as ganglion cyst located on the dorsal aspect of the right side facet joint between the fourth and fifth lumbar vertebrae. The treatment was surgical excision of the cyst and resulted in a satisfactory recovery. The differential diagnosis involving herniated lumbar intervertebral disc should not exclude ganglion cyst of the dorsal aspect of the lumbar facet joint.
Buttocks ; Diagnosis, Differential ; Ganglion Cysts* ; Humans ; Intervertebral Disc ; Lumbar Vertebrae ; Zygapophyseal Joint*

No abstract available.
Transposases*

A retrospective, multivariate statistical analysis of 394 patients who underwent cleft palate repair was performed to document the incidence of postoperative oronasal fistula formation, and to assess possible contributing factors. Fistulas of the secondary palate were included, but nasal-alveolar fistulas and intentionally unrepaired anterior palatal fistulas were excluded. Postoperative oronasal fistulas occurred in 25 of the 394 patients(6.35%). The mean age at repair was 16.4 months, and mean follow-up period was 2.5 years. Several variables that are included sex, age, extent of clefting(as estimated by the Veau classification), type of repair, and experience level of the operating surgeon were analyzed by means of the log-rank test to determine their significance in postoperative fistula formation. Sex (p=0.077), age(p=0.538), and experience level of the operating surgeon(p=0.094) did not significantly affect the rate of fistula formation. However, extent of clefting(p=0.005) and type of repair(p=0.001) are the strongest predictor of the occurrence of a cleft palate fistula.
Cleft Palate ; Fistula* ; Follow-Up Studies ; Humans ; Incidence ; Intention ; Palate ; Retrospective Studies