Congenital hypothyroidism is one of the most common endocrine disease in childhood and it causes not only mental retardation but also growth retardation. There were many papers about evaluation of developmental outcome in congenital hypothyroidism. The aim of this study was to evaluate growth outcome in congenital hypothyroidism. We evaluated 65 patients with congenital hypothyroidism diagnosed at Yonsei University College of Medicine. The results were summerized as follows; 1) The Male to female ratio was 1:1.4 2) Among the 65 patients, under 1 year of age with 16 cases (24.6%), 1~4 years with 19 cases (29.2%), 5~10 years with 22 cases (33.8%), above 10 years with 8 cases (12.3%). 3) Among the 65 patients, 30 cases (46%) had ectopic thyroid, 18 cases (28%) had dyshormonogeneses, 10 cases (15%) had hypoplasia and 7 cases (11%) had aplasia. 4) At the initial diagnosis, all the patients showed decreased T3, T4 and increased TSH level. 5) Before treatment, bone age and height age were delayed but they were normalized after treatment. 6) There was correlation between age of initial treatment and current height percentile. 7) There was significant correlation between initial T3 level and height age delay. 8) In the 4 cases who were diagnosed and treated before the age of 4, final adult height would be achieved within normal range. In conclusion, delayed growth due to congenital hypothyroidism would be prevented by early diagnosis and treatment. Therefore, the recognition of the importance of early diagnosis and treatment is emphasized.
Adult ; Congenital Hypothyroidism* ; Diagnosis ; Early Diagnosis ; Endocrine System Diseases ; Female ; Humans ; Intellectual Disability ; Male ; Reference Values ; Thyroid Dysgenesis

No abstract available.
Hyperparathyroidism, Primary

No abstract available.
Endoderm* ; Endodermal Sinus Tumor* ; Female ; Ovary*

No abstract available.
Child* ; Growth Hormone* ; Humans

No abstract available.

No abstract available.
Absorptiometry, Photon* ; Bone Density*

This is a case report of a cystic hygroma with polycystic kidney in a fetus which was suspected by ultrasonography and was confirmed by autopsy. Recently, we have experienced this case in 25-year old woman repeatedly and we report that with a brief review of relevant literature.
Adult ; Autopsy ; Female ; Fetus ; Humans ; Lymphangioma, Cystic* ; Polycystic Kidney Diseases* ; Ultrasonography

BACKGROUND/AIMS: The status of tumor suppression gene can be assessed indirectly by analyzing the loss of heterozygosity. Hepatoblastoma is a malignant liver tumor in childhood. To find the molecular carcinogenetic mechanism of hepatoblastoma, loss of heterozygosity (LOH) of p73, APC and p53 was studied. MATERIALS AND METHODS: Hepatoblastoma tissues from thirty-three cases were collected by lobectomy or tumorectomy. On H- stained sections, normal and tumor cells were microdissected separately and LOH analysis was perfomed using 8 markers: six of p73, one of APC and one of p53. RESULTS: Number of cases showing at least one LOH in six p73 markers was four out of twenty- six (15.4%): each LOH frequencies in D1S160, D1S170, D1S199, D1S228, D1S243 and D1S253 were in order of 7.7%, 0%, 9.1%, 0%, 12.5% and 0%. LOH frequency of APC was 41.7% and that of p53 was 13.3%. CONCLUSION: Low LOH frequency of p73 related markers indicates that p73 gene may not be implicated in carcinogenesis of hepatoblastoma.
Carcinogenesis ; Hepatoblastoma* ; Liver ; Loss of Heterozygosity*

Impetigo herpetiformis is a rare pustular eruption that may be seen in late pregnancy. It is associated with severe maternal and fetal complications in case of misdiagnosis and delayed treatment. The patient was a 25-years-old multigravida with psoriasis in her past history. At 20weeks gestation, she had been developed erythematous scaly annular patchs with papules and pustules on inner thigh. At 37weeks' gestation, the patient was suffered from a severely pruritic pustular rash with fever and leukocytosis. The skin of the affected areas was biopsied and showed intraepidermal pustular abscess with a neutrophilic infiltrate. Treatment commenced with intravenous fluids, antibiotics, systemic prednisone, steroid creams, and phototherapy(UVB) under the careful fetal well being monitoring. Cesarean section was done due to fetal distress, and a normal healthy male infant was delivered, following which the patient's condition improved rapidly.
Abscess ; Anti-Bacterial Agents ; Cesarean Section ; Diagnostic Errors ; Exanthema ; Female ; Fetal Distress ; Fever ; Humans ; Impetigo* ; Infant ; Leukocytosis ; Male ; Neutrophils ; Prednisone ; Pregnancy* ; Psoriasis ; Skin ; Thigh