Two different patterns of mini-puberty in two 46,XY newborns with 17ß-hydroxysteroid dehydrogenase type 3 deficiency.

We report two newborns with female external genitalia and bilateral inguinal swelling who were diagnosed with 17ß-hydroxysteroid dehydrogenase type 3 deficiency, a rare cause of 46,XY disorder of sexual development. The first case had normal clitoral size and vaginal and urethral openings, palpable gonads in the inguinal region, low testosterone, and low levels of basal and GNRH-stimulated gonadotropin. The second case had similar external genitalia, low testosterone but borderline basal and normal stimulated gonadotropin levels. Low testosterone/androstenedione ratios (0.22 and 0.24, respectively; normal, >0.8) after human chorionic gonadotropin stimulation indicated 17ß-hydroxysteroid dehydrogenase type 3 deficiency. HSD17B3 sequencing revealed a homozygous novel mutation (c.464A>C, p.H155P) in exon 6 in the first case and homozygous c.239G>A (p.R80Q) in exon 3 in the second.

Reference intervals of serum cystatin C for determining cystatin C-based glomerular filtration rates in preterm neonates.

OBJECTIVE: The aim of this study is to determine the reference values of serum Cystatin C (CysC) and CysC-based estimated glomerular filtration rate (GFR) on the 3rd and 30th day of life in comparison with serum creatinine (Cr) and Cr-based estimated GFR. METHODS: This prospective study was performed on 52 preterm neonates whose gestational ages were between 28 and 34 weeks. Preterm neonates were divided into three groups according to the gestational age as follows: gestational week of 28-29 (group 1), gestational week of 30-32 (group 2) and gestational week of 33-34 (group 3). Blood samples were obtained on the 3rd and the 30th days of life. CysC was determined by particle-enhanced nephelometric immunoassay. RESULTS: The group 1 preterm neonates have higher CysC values (1.34 ± 0.1 mg/L) on the 3rd day of life than the group 2 (1.28 ± 0.2 mg/L) and the group 3 (1.24 ± 0.2 mg/L) but the differences were not significant (p > 0.05, for each). CysC values were independent of gestational age, birth weight and gender (p > 0.05, for each). No correlation was found between CysC and Cr on the 3rd day of life (p > 0.05). CONCLUSIONS: CysC is regarded as an alternative for assessing the renal function in preterm neonates.

Short- and long-term efficacy of levamisole in children with steroid-sensitive nephrotic syndrome.

PURPOSE: In this study, we aimed to evaluate short- and long-term effects of levamisole therapy in steroid-sensitive nephrotic syndrome (SSNS) in children. METHODS: The study consisted of 29 SSNS patients who had been treated with levamisole for 12 months. Laboratory values and clinical data were analyzed for three separate periods for each patient: 1 year prior to the initiation of levamisole therapy (Pre-Lev), during 1 year of levamisole therapy (During-Lev), and the year following cessation of levamisole therapy (End-Lev). RESULTS: The level of proteinuria fell from median 135.0 (24.0-633.0) mg/h/m(2) Pre-Lev to median 4.4 (2.4-654.0) mg/h/m(2) During-Lev and median 4.8 (2.2-105.0) mg/h/m(2) End-Lev (p = 0.0001, for each). Median relapse frequency fell from 4.0 (3.0-8.0) relapses/patient per year Pre-Lev to 0.0 (0.0-2.0) During-Lev (p = 0.0001) with 23/29 patients having no relapse and 0.0 (0.0-1.0) End-Lev (p = 0.0001) with 18/29 patients without relapse. During-Lev, all children had marked diminution in annual steroid burden from a median of 5582.0 (2137.0-17340.0) mg/m(2) per year Pre-Lev to 2166.0 (840.0-9325.0) mg/m(2) per year (p = 0.0001). End-Lev, the annual steroid burden also continued to fall, to 0.0 (0.0-5386.0) mg/m(2) per year (p = 0.0001). The age and duration of NS were significantly higher in the children with relapses than in the children with sustained remission (p = 0.009 and p = 0.014, respectively). The side effects that are expected during levamisole therapy did not occur in our patients. CONCLUSION: Thus, our study showed that levamisole is a safe and effective steroid-sparing agent, with long-lasting effect even 12 months after withdrawal.

Serum cystatin C predicts acute kidney injury in preterm neonates with respiratory distress syndrome.

BACKGROUND: We aimed to compare serum cystatin C levels (sCysC) in preterm neonates with respiratory distress syndrome (RDS) with a control group and to investigate whether it could be used as a predictor for acute kidney injury (AKI). METHODS: sCysC was measured in 62 neonates with RDS (n = 28) and control neonates without RDS (n = 34), whose gestational ages (GA) were between 27 and 29 weeks (subgroup 1) and 30-32 weeks (subgroup 2). AKI was defined as oliguria and/or increase of serum creatinine. Blood samples were obtained on postnatal days (PND) 3 and 30. sCysC levels were determined by particle-enhanced nephelometric immunoassay. RESULTS: There were six neonates with AKI (RDS-AKI subgroup) and 22 neonates without AKI (RDS-no AKI subgroup) during the first 7 days. Although sCysC levels were lower in neonates with RDS than controls on PND3 in both GA subgroups, the differences were not significant. However, in neonates with RDS and AKI, sCysC levels were significantly higher than neonates with RDS but no AKI and neonates in the control group on PND3. sCysC level was found to have a statistically significant association with AKI development in preterm neonates with RDS. CONCLUSIONS: sCysC is an independent predictor of AKI in preterm neonates with RDS.

Tuberculous meningitis associated with diabetic ketoacidosis.

Diabetic ketoacidosis (DKA) is a life-threatening acute complication of type 1 diabetes mellitus. Infections are the leading cause of DKA, but trauma, myocardial infarction, or surgery may also precipitate this condition. In patients with DKA, although cerebral edema is the most common cause of neurological symptoms, other possibilities such as meningitis or encephalitis should also be considered. Herein, we present the case of an 8-year-old girl with DKA and tuberculous meningitis.