Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia.

BACKGROUND: DAX1 mutations are related to the X-linked form of adrenal hypoplasia congenita (AHC) in infancy and to hypogonadotropic hypogonadism (HH) in puberty. We report a male patient affected by X-linked AHC who presented with central diabetes insipidus and schwannoma in adulthood, which has not been described in association with AHC. CASE PRESENTATION: A 36-day-old male infant who presented with severe dehydration was admitted to the intensive care unit. His laboratory findings showed hyponatremia, hyperkalemia, hypoglycemia, and metabolic acidosis. After hormonal evaluation, he was diagnosed with adrenal insufficiency, and he recovered after treatment with hydrocortisone and a mineralocorticoid. He continued to take hydrocortisone and the mineralocorticoid after discharge. At the age of 17, he did not show any signs of puberty. On the basis of a GnRH test, a diagnosis of HH was made. At the age of 24, he was hospitalized with thirst, polydipsia and polyuria. He underwent a water deprivation test for polydipsia and was diagnosed with central diabetes insipidus. By quantitative polymerase chain reaction analysis, we identified a hemizygous frameshift mutation in DAX1 (c.543delA). CONCLUSIONS: We suggest that DAX1 mutations affect a wider variety of endocrine organs than previously known, including the posterior pituitary gland.

Distribution and persistence of tricyaclazole in agricultural field soils.

Soil is the major sink for majority of pesticides applied on agricultural crops and its fate depends on variety of factors. There is little research on fate of pesticide in field soil under different climatic conditions and there is a need of study on the influence of climate on pesticide degradation and persistence in soil. In the present study, the persistence and distribution of tricyclazole was investigated in rice field soil under the influence of cold winter condition. Field experiment was carried at 35 different field sites from 6 provinces in Republic of Korea. Limit of detection and limit of quantification of tricyclazole were found to be 0.005 and 0.0165 mg/kg, respectively. The concentrations of tricyclazole in soil samples ranged from 0.387 mg/kg in sites in Gyeongsangbuk-do areas and lowest 0.021 mg/kg in sites from Chuncheongnam-do areas. In natural environmental conditions, tricyclazole persisted longer than 11 months post application in agricultural field soils. Our result indicates the influence of cold climatic condition on the persistence of tricyclazole.

Risk Factors and Effects of Severe Late-Onset Hyponatremia on Long-Term Growth of Prematurely Born Infants.

PURPOSE: Sodium is an essential nutritional electrolyte that affects growth. A low serum sodium concentration in healthy premature infants beyond 2 weeks of life is called late-onset hyponatremia (LOH). Here, we investigated the association between LOH severity and growth outcomes in premature infants. METHODS: Medical records of premature infants born at ≤32 weeks of gestation were reviewed. LOH was defined as a serum sodium level <135 mEq/L regardless of sodium replacement after 14 days of life. Cases were divided into two groups, <130 mEq/L (severe) and ≥130 mEq/L (mild). Characteristics and growth parameters were compared between the two groups. RESULTS: A total of 102 premature infants with LOH were included. Gestational age ([GA] 27.7 vs. 29.5 weeks, p<0.001) and birth weight (1.04 vs. 1.34 kg, p<0.001) were significantly lower in the severe group. GA was a risk factor of severe LOH (odds ratio [OR], 1.328, p=0.022), and severe LOH affected the development of bronchopulmonary dysplasia (OR, 2.950, p=0.039) and led to a poor developmental outcome (OR, 9.339, p=0.049). Growth parameters at birth were lower in the severe group, and a lower GA and sepsis negatively affected changes in growth for 3 years after adjustment for time. However, severe LOH was not related to growth changes in premature infants. CONCLUSION: Severe LOH influenced the development of bronchopulmonary dysplasia and developmental outcomes. However, LOH severity did not affect the growth of premature infants beyond the neonatal period.