Moyamoya disease is a cerebrovascular disorder of unknown cause, characterized by slowly progressive bilateral stenosis or occlusion of the internal carotid arteries and produces collateral vessels. Moyamoya syndrome has rarely been reported in association with Graves' disease, especially in children. Several reports suggest that a cerebral infarction might have occurred in patients with clinical and laboratory evidence of hyperthyroid function. We report a case of Moyamoya disease in a girl with Down syndrome and thyrotoxicosis, and we review the relevant literature. To our best knowledge, this is the first report of Moyamoya disease associated with thyrotoxicosis in a young person in Korea.
Down Syndrome/complications ; Female ; Humans ; Korea ; Moyamoya Disease/*complications/*diagnosis ; Thyrotoxicosis/*complications ; Young Adult

The prevalence of childhood obesity is increasing worldwide in epidemic proportions, despite major efforts to promote weight reduction. Long-term follow-up indicates that obese children and adolescents tend to become obese adults. Thyroid disorders are common endocrine problems encountered in the pediatric and adolescent age group. Most reports about the relationship between thyroid dysfunction and obesity are topics about patient with hypothyroidism. Much of the rationale in trying to identify abnormalities of thyroid function in obesity is based on the concept that in hypothyroidism "slow metabolism leads to obesity". We report a case of a girl with tremor and modest weight gain. She was diagnosed as hyperthyroidism. We suggest that physicians consider a possibility of thyroid disease not only hypothyroidism but also hyperthyroidism in obese patients. To our knowledge, this is the first report of overt hyperthyroidism with obesity in children. We report a case with literature review.
Adolescent ; Adult ; Child ; Follow-Up Studies ; Humans ; Hyperthyroidism ; Hypothyroidism ; Obesity ; Overweight ; Prevalence ; Thyroid Diseases ; Thyroid Gland ; Tremor ; Weight Gain ; Weight Loss

Children with abnormal sex development may present with ambiguous genitalia in the newborn period or lacking of secondary sexual characteristics in puberty. Clinicians should make a prompt and accurate diagnosis and counsel parents on therapeutic options to minimize or avoid medical and psychological complications. 5alpha-reductase deficiency is a rare autosomal recessive disorder of sex development caused by a mutation of the 5alpha-reductase type 2 gene. As a result, there is an abnormality in conversion of testosterone (T) to dihydrotestosterone (DHT) and children with 5alpha-reductase deficiency are born with ambiguous genitalia. Here, we report identical twins who presented with ambiguous genitalia with a 46,XY karyotype and were diagnosed as 5alpha-reductase deficiency.
Child ; Dihydrotestosterone ; Disorders of Sex Development ; Humans ; Infant, Newborn ; Karyotype ; Parents ; Puberty ; Sexual Development ; Testosterone ; Twins, Monozygotic