No abstract available.
Ghrelin* ; Prader-Willi Syndrome*

No abstract available.
Ghrelin* ; Prader-Willi Syndrome*

No abstract available.
Rickets*

No abstract available.
Adrenal Hyperplasia, Congenital* ; Genetic Association Studies*

PURPOSE: Differential diagnosis of sexual precocity is important. Sexual precocity, defined as the appearance of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys, was studied to evaluate the sex incidence and etiology of sexual precocity. METHODS: We reviewed the etiology and age incidence of precocious puberty in 14 boys and 89 girls examined between 1994. 11. 1-2002. 7. 31 at Samsung Seoul Hospital. All underwent standard anthropometric measures. They were assigned to diagnostic categories on the basis of clinical assessment, endocrine evaluation, radiologic imaging, and pelvic ultrasonography. RESULTS: In 89 girls, 27 had idiopathic precocious puberty, 3 had precocious puberty with organic brain lesion, 12 had gonadotropin-independent precocious puberty, 44 had premature thelarche, 2 had premature menarche, 1 had premature adrenarche. The majority of idiopathic precocious puberty girls(78%) were aged between 7-7.9 years. In 14 boys, 2 had idiopathic precocious puberty, 3 had precocious puberty with organic brain lesion, 6 had gonadotropin-independent precocious puberty, 3 had gynecomastia. CONCLUSION: Sexual precocity occurs more frequently in girls than boys. Premature thelarche is the most common form of sexual precosity. In boys, majority of central precocious puberty had organic brain lesion, so brain imaging study should be performed. In girls, majority of idiopathic precocious puberty were aged between 7-7.9 years. Reexamination of the age limit for defining when puberty should be considered precocious in Korean girls is necessary.
Adolescent ; Adrenarche ; Brain ; Diagnosis, Differential ; Female ; Gynecomastia ; Humans ; Incidence* ; Male ; Menarche ; Neuroimaging ; Puberty ; Puberty, Precocious* ; Seoul ; Ultrasonography

No abstract available.
Atherosclerosis* ; Female ; Hormone Replacement Therapy* ; Humans

No abstract available.
Dexamethasone* ; Psychotic Disorders*

PURPOSE: To understand natural course of transient hyperthyrotropinemia, so that the unnecessary treatment could be avoided. METHODS: Total 182 healthy newborns whose TSH levels in newborn screening test had been higher than 20 microIU/mL were recalled. Their serum levels of TSH, T4, free T4 were checked. RESULTS: Among 182 newborns, 10 newborns had congenital hypothyroidism. 68.1 % of healthy newborns who had high TSH levels were normalized within 2 months and all of the rests were normalized within 5 months. CONCLUSION: Transient hyperthyrotropinemia in newborns improves spontaneously. The unnecessary treatment of transient hyperthyrotropinemia should be avoided.
Congenital Hypothyroidism ; Follow-Up Studies* ; Humans ; Infant, Newborn ; Mass Screening ; Neonatal Screening*

No abstract availalbe.

A case of transient neonatal diabetes mellitus combined with congenital adrenal hyperplasia(CAH) is described. A female infant was born by cesarean delivery due to fetal distress, she had sunken eyeball and anterior fontanelle, large protruded tongue and thin subcutaneous tissues. She had large clitoris and progressive pigmentation on whole body was observed since 10th day of birth. Hyperglycemia and glycosuria was noted at 3rd day of birth. Level of insulin and C-peptide was 3.0 mU/L and 0.35 ng/mL respectively. Serum ACTH was 870.4 pg/mL and 17-hydroxyprogesterone was increased to 20,000 ng/dL. Serum Na was 124 mEq/L, K 5.6 mEq/L. Abdominal MRI showed no abnormality. Chromosomal study showed 46,XX. Genetic analysis with polymorphic DNA markers for chromosome 6 showed paternal uniparental isodisomy at D6S276, D6S1704 and DNA analysis of CYP 21 gene showed mutation at P435S. She required insulin therapy for 8 months after birth. Hydrocortisone and florinef was needed for the control of CAH.
17-alpha-Hydroxyprogesterone ; Adrenal Hyperplasia, Congenital* ; Adrenocorticotropic Hormone ; C-Peptide ; Chromosomes, Human, Pair 6 ; Clitoris ; Cranial Fontanelles ; Diabetes Mellitus* ; DNA ; Female ; Fetal Distress ; Genetic Markers ; Glycosuria ; Humans ; Hydrocortisone ; Hyperglycemia ; Infant ; Insulin ; Magnetic Resonance Imaging ; Parturition ; Pigmentation ; Subcutaneous Tissue ; Tongue ; Uniparental Disomy