Case report of 49,XXXXY syndrome with cleft palate, diabetes, hypothyroidism, and cataracts.

RATIONALE: The karyotype 49,XXXXY is a rare form of Klinefelter syndrome usually presenting with ambiguous genitalia, facial dysmorphism, mental retardation, and a combination of cardiac, skeletal, and other malformations. PATIENT CONCERNS: We describe a 19-year-old man, whose chromosomal analysis of peripheral blood revealed a karyotype of 49,XXXXY. His mental development and motor ability were significantly delayed. At the age of 19, he had failed to develop secondary sexual characteristics. His random blood glucose level was 19.61 mmol/L, and he showed dry mouth, polydipsia, and polyuria. He had a characteristic facial appearance with prognathism, widened nasal bridge, and strabismus. His bilateral elbow rotation was limited. He had atrophic testes with micropenis. Ophthalmic examination revealed a polar cataract in both eyes. DIAGNOSIS: He was diagnosed with Klinefelter syndrome associated with cleft palate, hypothyroidism, cataracts, diabetes, and other anomalies. INTERVENTIONS: After the initial diagnosis, the patient received intensive insulin therapy to correct hyperglycemia, and he received calcium and vitamin D supplements. The patient also received testosterone and thyroid hormone replacement therapy for primary hypogonadism. OUTCOMES: The patient was discharged 12 days after receiving treatment; meanwhile, there were no clinical symptoms of dry mouth, polyuria and polyuria, and his blood glucose level was controlled. LESSONS: The combination of cleft palate, hypothyroidism, cataracts, diabetes, and osteoporosis in 49,XXXXY syndrome has not yet been reported. Early treatment and appropriate care can significantly improve the patient's quality of life and prevent serious consequences.

Colostrum versus formula supplementation for glucose stabilization in newborns of diabetic mothers.

The purpose of this article is to describe practice change designed to facilitate breastfeeding while maintaining glucose stabilization in infants born to diabetic mothers. Postpractice change outcomes of newborn blood glucose levels, formula supplementation, and colostrum feeds are specifically addressed. There were no significant differences between glucose values for infants given formula supplementation versus those fed colostrum. Postpractice change, admissions to the neonatal intensive care unit (NICU) for glucose stabilization decreased and exclusive breastfeeding increased.

Hypothalamic changes in diabetic Chinese hamsters. A semiquantitative, light and electron microscopic study.

Eight male congenitally diabetic Chinese hamsters (DCH) and eight heterozygotic controls were studied for a period of about 20 months. Final glycemia and body weight were significantly higher in DCH (p less than 0.001). After whole body perfusion brains were removed and processed for light and electron microscopy. Qualitative and quantitative light microscopic studies of semithin sections of hypothalami revealed significant changes in DCH. Accumulation of lipid droplets was found in the external layer of the median eminence (p less than 0.001). Cell bodies of beta-tanycytes (p less than 0.01) and of arcuate nucleus neurons (p less than 0.001) were hypotrophic. By electron microscopy, the lipid droplets were localized in beta-tanycyte processes. Apical surfaces of alpha- and beta-tanycytes of DCH had fewer digitations. Intracytoplasmic organelles of arcuate nucleus neurons were reduced in number and size. These findings suggest a primary pathogenetic role of the hypothalamic-hypophyseal axis in diabetes of Chinese hamsters.

Infants of diabetic mothers: radiographic manifestations.

The radiographic findings of a series of infants of diabetic mothers and a review of the literature are presented to illustrate the wide spectrum of abnormalities that may be seen with this condition. Congenital anomalies of the spine and skeletal, genitourinary, and cardiovascular systems and visceral situs inversus are significantly more frequent among infants of diabetic mothers than normal. The most specific anomaly is sacral agenesis. Renal vein thrombosis and adrenal hemorrhage are also more common and may be diagnosed by sonography. Over one-half of the cases of the small left colon are associated with maternal diabetes and may be diagnosed and treated with a contrast enema. The incidence of the respiratory distress syndrome is higher in infants of diabetic mothers than other premature infants, and the disease may occur in the presence of reliable indicators of lung maturity. Other common causes of dyspnea include cardiomyopathy, congenital heart disease, wet lung syndrome, hyperviscosity syndrome, and persistence of fetal circulation. Echocardiography is the most valuable adjunct in differentiating cardiac from pulmonary problems.