Efficiency of topical rifampin on infection in open neural tube defects: a randomized controlled trial.

OBJECTIVES: Neural tube defects are the second most common congenital malformation in humans. Despite significant decreases in neural tube defects and related mortality and morbidity with recent developments, infections remain an important problem. Research on the role of topical therapy for managing neural tube defects and associated infections in the neonatal period has been limited. This randomized controlled trial aimed to investigate the efficiency of topical Rifampin on infection control in paraplegic newborns with open neural tube defects. METHODS: Thirty-seven patients who underwent an operation for neural tube defects were included. Topical Rifampin and cefotaxime were administered to 19 patients constituting the case group and local saline and cefotaxime were administered to a control group. Patients were examined for ventriculoperitoneal shunt infection/dysfunction, surgical site infection, urinary tract infection, and sepsis. RESULTS: None of the patients using topical rifampin had ventriculoperitoneal shunt infection/dysfunction, surgical site infection, urinary tract infection, or sepsis. In the control group, ventriculoperitoneal shunt infection/dysfunction was found in 4 (22.2%) cases, surgical site infection in 3 (27.7%), urinary tract infection in 3 (27.7%), and sepsis in 5 (27.7%), with statistically significant differences between the groups (p = 0.01, p = 0.032, p = 0.032, and p = 0.002, respectively). No local or systemic side effect was observed regarding rifampin use. CONCLUSION: Topical Rifampin is effective in minimizing complications like sepsis, surgical site infection, urinary tract infection, and ventriculoperitoneal shunt infection due to neural tube defect operations. Further research with larger numbers of cases is needed to implement this practice routinely.

Wiskott-Aldrich syndrome: Two case reports with a novel mutation.

BACKGROUND: The Wiskott-Aldrich syndrome (WAS) is X-linked recessive disorder associated with microplatelet thrombocytopenia, eczema, infections, and an increased risk of autoimmunity and lymphoid neoplasia. The originally described features of WAS include susceptibility to infections, microthrombocytopenia, and eczema. AIM: In this case report, we present our experience about two cases diagnosed with a new mutation. METHODS: We report phenotypical and laboratory description of two cases with WAS. RESULTS: We, for the first time, detected a new hemizygote mutation of WAS gene (NM_000377.2 p.M393lfs*102 (c.1178dupT)) in two patients. The first case was an 11-month-old boy presenting with complaints of recurrent soft tissue infection, ear infection, anemia, and thrombocytopenia with a low platelet volume. The second case was a 2-month-old boy presenting with thrombocytopenia and a low platelet volume. Both cases were the first-degree relatives: they were cousins and their mothers were sisters. CONCLUSION: Herein, we report two cases of WAS and a new gene mutation which would disrupt the WAS protein function within the Polyproline (PPP) domain. This report adds to the growing number of mutations which cause complex clinical manifestations associated with WAS.

The Use of Acute Peritoneal Dialysis in Critically Ill Newborns.

BACKGROUND To evaluate the efficacy, complications, and mortality rate of acute peritoneal dialysis (APD) in critically ill newborns. MATERIAL AND METHODS The study included 31 newborns treated in our center between May 2012 and December 2014. RESULTS The mean birth weight, duration of peritoneal dialysis, and gestational age of the patients were determined as 2155.2 ± 032.2 g (580-3900 g), 4 days (1-20 days), and 34 weeks (24-40 weeks), respectively. The main reasons for APD were sepsis (35.5%), postoperative cardiac surgery (16%), hypoxic ischemic encephalopathy (13%), salting of the newborn (9.7%), congenital metabolic disorders (6.1%), congenital renal diseases (6.5%), nonimmune hydrops fetalis (6.5%), and acute kidney injury (AKI) due to severe dehydration (3.2%). APD-related complications were observed in 48.4% of the patients. The complications encountered were catheter leakages in nine patients, catheter obstruction in three patients, peritonitis in two patients, and intestinal perforation in one patient. The general mortality rate was 54.8%, however, the mortality rate in premature newborns was 81.3%. CONCLUSIONS APD can be an effective, simple, safe, and important therapy for renal replacement in many neonatal diseases and it can be an appropriate treatment, where necessary, for newborns. Although it may cause some complications, they are not common. However, it should be used carefully, especially in premature newborns who are vulnerable and have a high mortality risk. The recommendation of APD therapy in such cases needs to be verified by further studies in larger patient populations.

Factors affecting infection development after meningomyelocele repair in newborns and the efficacy of antibiotic prophylaxis.

AIM: The purpose of this study was to evaluate the clinical and surgical variables that may be associated with wound infection and meningitis/ventriculoperitoneal (VP) shunt infection in newborns diagnosed with meningomyelocele (MMC), as well as the efficacy of antibiotic prophylaxis in reducing these complications. MATERIAL AND METHODS: The data of 91 neonates diagnosed with MMC, who underwent surgical intervention between May 2012 and December 2014, were retrospectively evaluated. Multivariant logistic regression analysis was used to determine the possible clinical and neurosurgical variables associated with meningitis/VP shunt infection and surgical wound infection. Spearman's test was performed for the correlation analysis. RESULTS: Following MMC closure, of the 91 neonates, 18 (16.4%) developed meningitis/shunt infection and 12 (11%) developed surgical wound infection. The operation time was not a significant independent risk factor for the development of meningitis (RR 0.618 [0.199-1.922], p = 0.406). Open neural placodes that were not covered by any pseudomembrane (myeloschisis), external ventricular drainage (EVD) use, and flap transposition were determined as significant relative risk factors for the development of meningitis (RR 8.655 [2.329-32.157], p = 0.001; RR 9.404 [1.183-74.743], p = 0.034; RR 8.125 [2.496-26.448], p = 0.001; and RR 3.150 [1.963-10.308], p = 0.048, respectively). Deep surgical wound infection was not correlated with the operation time or wound surface area. However, there was an intermediate but very significant positive correlation between meningitis and cerebrospinal fluid (CSF) leakage, length of hospitalization, and flap transposition (r = 0.377, 0.420, 0.357, and 0.503, respectively; for all values, p < 0.001). CONCLUSIONS: There was no association between MMC closure and development of infection. Since it carries a high risk for the development of meningitis, the EVD system should be avoided unless necessary. Routine prophylactic antibiotic use did not reduce the infection risk in MMC repair surgery. Thus, antibiotics should not be used if there are no risk factors predisposing to infection.

Clinical manifestations and laboratory findings of 496 children with brucellosis in Van, Turkey.

BACKGROUND: Brucellosis is the most common zoonotic disease worldwide and remains an important human disease especially in developing countries. The aim of the present study was to evaluate clinical manifestations and laboratory findings of childhood brucellosis in Van province of Eastern Turkey. To our knowledge, this is the largest series of childhood brucellosis reported in the literature. METHODS: In this retrospective study, 496 children with brucellosis were assessed for the clinical manifestations and laboratory findings from July 2009 through December 2013. The diagnosis of brucellosis was based on clinical findings and a standard tube agglutination test (titer ≥ 1:160). Data were analyzed using Minitab version 16. RESULTS: The study included 496 children (boys, 60.5%) with a mean age of 10.0 ± 3.95 years (range, 1-16 years). The most frequent clinical symptoms were arthralgia (46.2%), fever (32.1%), and abdominal pain (17.1%) and the most common clinical signs were peripheral arthritis (10.1%), splenomegaly (2.2%) and hepatomegaly (1.8%). The most contagious seasons were summer and autumn (63.3%). Elevated lactate dehydrogenase and C-reactive protein and erythrocyte sedimentation rate were reported in 63.1%, 58.7%, and 55.2% of the patients, respectively. Anemia (20.4%), thrombocytopenia (15.5%), and leukopenia (12.1%) were the most common hematologic findings. CONCLUSIONS: Brucellosis remains a serious public health problem in Turkey. The clinical and laboratory characteristics of childhood brucellosis have been described in order to assist clinicians in diagnosing and monitoring the disease.

Impact of patent ductus arteriosus and subsequent therapy with ibuprofen on the release of S-100B and oxidative stress index in preterm infants.

BACKGROUND: Hemodynamically significant patent ductus arteriosus (hsPDA) leads to injury in tissues/organs by reducing perfusion of organs and causing oxidative stress. The purpose of this study was to evaluate the oxidant/antioxidant status in preterm infants with hsPDA by measuring the total antioxidant capacity and total oxidant status and to assess neuronal damage due to oxidant stress related to hsPDA. MATERIAL AND METHODS: This prospective study included 37 low-birth-weight infants with echocardiographically diagnosed hsPDA treated with oral ibuprofen and a control group of 40 infants without PDA. Blood samples were taken from all infants, and than the total antioxidant capacity (TAC), total oxidant status (TOS), and S-100B protein levels were assessed and oxidative stress index was calculated before and after therapy. RESULTS: The mean pre-therapy TOS level and oxidative stress index (OSI) value of the patients with hsPDA were significantly higher, but TAC level was lower than in the control group. There were no statistically significant differences in the mean post-therapy values of TOS, TAC, OSI, and S-100B protein between the two groups. CONCLUSIONS: hsPDA may cause cellular injury by increasing oxidative stress and damaging tissue perfusion; however the brain can compensate for oxidative stress and impaired tissue perfusion through well-developed autoregulation systems to decrease tissue injury.

Spectrophotometric analysis in umbilical cords of infants with meconium aspiration syndrome.

We compared spectrophotometric analysis of the umbilical cords of infants with meconium aspiration syndrome (MAS) or with meconium-stained amniotic fluid (MSAF) and healthy infants. In a prospective study, 15 infants with MAS and 37 infants with MSAF were enrolled. Twenty healthy infants formed a control group. The absorption peak of umbilical cords with meconium was significantly higher in the infants with MAS or MSAF than in controls. Spectrophotometric analysis of the umbilical cords with meconium may be useful to identify developed neonates with MAS or MSAF.

A very rare entity of diabetes insipidus associated with Edwards syndrome.

Edwards syndrome is the second most commonly seen trisomy. It was first described by John Hamilton Edwards in 1960. Although most cases result in termination or foetal loss, live births have been documented in 5%. Edwards syndrome is characterized by multisystem anomalies, of which holoprosencephaly (HPE) is observed in 4-8% of cases. The clinical findings correspond to the degree of HPE malformation. Convulsions and endocrinopathies are among the severe clinical findings. The most common endocrinopathies are central diabetes insipidus (DI), hypothyroidism, hypocortisolism and growth hormone deficiency. The coexistence of holoproencephaly and DI in Edwards syndrome was discussed under the light of literature.

Intravenous Immunoglobulin Use in Hemolytic Disease Due to ABO Incompatibility to Prevent Exchange Transfusion.

Introduction: Intravenous immunoglobulin (IVIG) has been widely used to treat the hemolytic disease of the newborn (HDN). Although it has been shown that IVIG treatment reduces the duration of phototherapy and hospitalization, the use of IVIG in hemolytic disease due to ABO incompatibility has been controversial in recent years. This study aimed to investigate the role of IVIG in the prevention of exchange transfusion in infants with ABO HDN who presented with bilirubin levels at or above the level of exchange transfusion. Materials and Methods: This study evaluated the data of infants with ABO HDN in the Turkish Neonatal Jaundice Online Registry. The infants with ABO HDN who met the total serum bilirubin level inclusion criteria (within 2-3 mg/dL of exchange transfusion or even above exchange transfusion level) were included in the study according to the guidelines from the American Academy of Pediatrics and the Turkish Neonatal Society. All patients were managed according to the unit protocols recommended by these guidelines and received light-emitting diode (LED) phototherapy. Infants who only received LED phototherapy, and who received one dose of IVIG with LED phototherapy were compared. Results: During the study period, 531 term infants were included in the study according to inclusion criteria. There were 408 cases in the phototherapy-only group, and 123 cases in the IVIG group. The demographic findings and the mean bilirubin and reticulocyte levels at admission were similar between the groups (p > 0.05), whereas the mean hemoglobin level was slightly lower in the IVIG group (p = 0.037). The mean age at admission was earlier, the need for exchange transfusion was higher, and the duration of phototherapy was longer in the IVIG group (p < 0.001, p = 0.001, and p < 0.001, respectively). The rate of re-hospitalization and acute bilirubin encephalopathy (ABE) was higher in the IVIG group (p < 0.001 and p = 0.01, respectively). Conclusion: In this study, we determined that one dose of IVIG did not prevent an exchange transfusion nor decrease the duration of phototherapy in infants, who had bilirubin levels near or at exchange transfusion level, with hemolytic disease due to ABO incompatibility.

Exchange transfusion for neonatal hyperbilirubinemia: A multicenter, prospective study of Turkish Neonatal Society.

Objective: The frequency of neonatal exchange transfusion has declined in recent years, but is still performed in many countries. The procedure is associated with complications. The aim of the study was to determine the clinical features and etiologies of infants with hyperbilirubinemia who underwent exchange transfusion and evaluate the adverse events and clinical outcomes. Material and Methods: We performed a secondary analysis of the multicenter Turkish Neonatal Jaundice Online Registry data. Otherwise healthy newborns born ≥35 weeks of gestation who were hospitalized for jaundice and underwent exchange transfusion were included. Results: One-hundred thirty-two patients with a mean serum bilirubin level on admission of 24.9±9.1 mg/dL were enrolled in the study. The most common cause for exchange transfusion was hemolytic jaundice (63.6%), followed by lack of proper feeding (12.9%). It was found that the infants with lack of proper feeding were discharged earlier from the maternity ward (p=0.02), but they were admitted to hospital later (p<0.001) with a higher bilirubin level (p=0.001), and geater weight loss (p=0.04). The reported rate of adverse events associated with exchange transfusion was 11.4%. The most common complication was thrombocytopenia (40%). None of the infants died during the procedure. Acute bilirubin encephalopathy was reported in 13 (9.8%) patients. Conclusion: Severe hyperbilirubinemia requiring exchange transfusion and acute bilirubin encephalopathy are still challenging problems in neonatal periodin our country. The policies including blood group analysis of pregnant women, programs informing parents about breastfeeding and jaundice, and monitoring bilirubin levels of high-risk newborns should be developed to reduce the necessitating for exchange transfusion and to avoid related complications.

Evaluation of the incidence, characteristics, and outcomes of pediatric chronic critical illness.

Our aim was to determine characteristics of children with chronic critical illness (CCI) admitted to the pediatric intensive care unit (PICU) of a tertiary care children's hospital in Turkey. The current study was a multicenter retrospective cohort study that was done from 2014 to 2017. It involved three university hospitals PICUs in which multiple criteria were set to identify pediatric CCIs. Pediatric patients staying in the ICU for at least 14 days and having at least one additional criterion, including prolonged mechanical ventilation, tracheostomy, sepsis, severe wound (burn) or trauma, encephalopathy, traumatic brain injury, status epilepticus, being postoperative, and neuromuscular disease, was accepted as CCI. In order to identify the newborn as a chronic critical patient, a stay in the intensive care unit for at least 30 days in addition to prematurity was required. Eight hundred eighty seven (11.14%) of the patients who were admitted to the PICU met the definition of CCI and 775 of them (87.3%) were discharged to their home. Of CCI patients, 289 (32.6%) were premature and 678 (76.4%) had prolonged mechanical ventilation. The total cost values for 2017 were statistically higher than the other years. As the length of ICU stay increased, the costs also increased. Interestingly, high incidence rates were observed for PCCI in our hospitals and these patients occupied 38.01% of the intensive care bed capacity. In conclusion, we observed that prematurity and prolonged mechanical ventilation increase the length of ICU stay, which also increased the costs. More work is needed to better understand PCCI.

Severe hypernatremia in newborns due to salting.

The aim of this study was to evaluate the etiology, clinical, and laboratory findings and prognostic features of life-threatening hypernatremic newborns secondary to salting. Ten severely hypernatremic newborns (four females) with a mean age of 6.5 +/- 2.6 days were followed up. Nine of them were full term, and one was preterm. It was noticeable that 60% of them were small for gestational age. In the laboratory investigation, five uremias were detected. It was interesting to find in the etiologic history that 40% of the patients had been salted just after birth. Twenty percent of them had also hyperbilirubinemia and kernicterus, 20% had neonatal convulsion, and 50% had dehydration. Two of the hypernatremic newborns died during the study; the others were followed up. One case had spasticity and developmental disability at the 3rd month, and another one had developmental disability at the 6th month of ages. As a conclusion, although salting of newborns is not so frequent, it could be seen in rural places of our country, and this may be one of the reasons for serious hypernatremia in newborns whose skin integrity have not been formed completely. These cases should be treated carefully.

A 3-day-old boy with a right preauricular swelling.

A 3-day-old boy was admitted for right preauricular swelling. Examination showed a toxic looking neonate with poor neonatal reflexes. There was erythema and swelling of 4 × 3 cm at the level of the right cheek. Laboratory investigation pointed to a bacterial infection. With parenteral antibiotics, the lesion resolved completely.

The incidence of asymptomatic hypertension in school children.

BACKGROUND: Although hypertension is a well-documented risk factor for cardiovascular diseases, including myocardial infarction and stroke, in adults, only recently has knowledge about childhood hypertension increased significantly. AIM: To determine the incidence of asymptomatic hypertension in school-age children. SUBJECTS AND METHODS: Children in primary school were chosen with a randomized sampling method. During measurement of blood pressure, a calm, comfortable setting was provided. Blood pressure measurements were performed by only 1 researcher. For accurate measurement of blood pressure, recommended standards were followed. RESULTS: A total of 1,963 children were included in the study. The incidence of systolic hypertension and diastolic hypertension were 7% and 2%, respectively. Obesity was present in 10.5% girls with hypertension and 13.9% of boys with hypertension. CONCLUSION: Our findings indicate that hypertension is an important health problem in children, and its prevalence is quite high. Blood pressure measurements must be a part of routine clinical examinations. Further studies should be performed in high-risk populations to prevent hypertension and to establish methods of early diagnosis and treatment in children.

Brachial plexus paralysis due to giant cavernous hemangioma with Kasabach-Merritt syndrome: successful management with interferon alpha.

Giant hemangiomas are rare in newborn babies and may cause some life-threatening complications such as congestive heart failure and coagulopathies including severe thrombocytopenia, microangiopathic hemolytic anemia and bleeding such as Kasabach-Merritt syndrome. We have presented here one infant case with a right lower brachial plexus paralysis due to giant hemangioma treated successfully with interferon alpha and have discussed the treatment. This is the first case of Kasabach-Merritt syndrome associated with a right lower brachial plexus paralysis treated with interferon in the literature to our knowledge. The administration of interferon-alpha might be indicated as a therapy for severe, life-threatening and giant hemangiomas such as Kasabach-Merritt syndrome, especially when there is resistance to steroid. However, more extensive data and new patients are needed to clarify this issue.

The prevalence of urinary lithiasis in children in Van Region, Turkey.

We aimed to determine the prevalence and etiology of urinary lithiasis in childhood in our region, Van, Turkey. A total of 1120 children were included in the study. Urinary ultrasonography was performed in all the children between April 2003 and June 2003. During the study, the kidneys were examined longitudinally and transversally using a 3.75 MHz convex probe in a Hitachi EUB -315 ultrasonography machine. The children's ages ranged from 7 years to 14 years (10.16 +/- 1.92 years) and 572 (51.1%) were males and 548 (48.9%) females. Urinary ultrasonography showed that 19 (1.7%) children had urinary lithiasis, which was in the right kidney in 15 children and in the left kidney in four children. Urinary lithiasis was in the upper urinary tract in all children. The etiological studies showed metabolic disorder in 14 children, and congenital renal anomaly in one child, but no underlying cause was diagnosed in four children. In conclusion, we found that was the prevalence of urinary lithiasis was 1.7% in school-aged children in our region. It was also noted that all urinary lithiasis was in the upper urinary system and its most common cause was metabolic disorder.

The relationship between mother and infant plasma trace element and heavy metal levels and the risk of neural tube defect in infants.

OBJECTIVE: To determine levels of trace elements [copper (Cu), zinc (Zn), selenium (Se), and cobalt (Co)] and heavy metals [arsenic (As), mercury (Hg), lead (Pb), and cadmium (Cd)] in the plasma of mothers and infants and investigate the relationship between those levels and neural tube defects (NTD). METHODS: A total of 100 neonates diagnosed with NTD and placed in the Neonatal Intensive Care Unit of Yuzuncu Yil University, Turkey between May 2013 and December 2016 comprised the study group. The control group consisted of 70 healthy neonates not diagnosed with NTD or any other congenital anomalies. For both the groups, mother and infant plasma levels of Cu, Zn, Co, Cd, Se, Hg, As, and Pb were measured and compared. Plasma levels of Cu, Zn, Co, Cd, Se, Hg, As, and Pb were measured and compared between two groups of mothers and infants. FINDINGS: Mother and infant plasma levels of trace elements Zn and Se were determined to be significantly lower in the study group compared with the control group, while Cu levels were significant elevated in the study group (all p values < .05). Plasma levels of heavy metals As, Pb, and Cd were found to be significantly higher in the NTD control group (p < .05 for all). There was no association between maternal infection, maternal smoking status, history of miscarriage, or history of NTD with the development of NTD (p > .05). Differences in maternal age, birth weight, length of gestation, and infant gender for the two groups were also determined not to be statistically significant. RESULTS: High plasma levels of heavy metals As, Pb, and Cd and trace element Cu were identified as risk factors for the development of NTD. At the same time, low plasma levels of trace elements Zn and Se were also found to be risk factors for NTD. However, no association between Hg and Co plasma levels and increased risk for the development of NTD was observed. This study, while being the most comprehensive case study to date investigating the relationship between heavy metals and trace element levels and increased risk of NTD, nonetheless highlights the need for further research in order to make definite statements regarding this relationship.

Early neonatal outcomes of very-low-birth-weight infants in Turkey: A prospective multicenter study of the Turkish Neonatal Society.

OBJECTIVE: To investigate the early neonatal outcomes of very-low-birth-weight (VLBW) infants discharged home from neonatal intensive care units (NICUs) in Turkey. MATERIAL AND METHODS: A prospective cohort study was performed between April 1, 2016 and April 30, 2017. The study included VLBW infants admitted to level III NICUs. Perinatal and neonatal data of all infants born with a birth weight of ≤1500 g were collected for infants who survived. RESULTS: Data from 69 NICUs were obtained. The mean birth weight and gestational age were 1137±245 g and 29±2.4 weeks, respectively. During the study period, 78% of VLBW infants survived to discharge and 48% of survived infants had no major neonatal morbidity. VLBW infants who survived were evaluated in terms of major morbidities: bronchopulmonary dysplasia was detected in 23.7% of infants, necrotizing enterocolitis in 9.1%, blood culture proven late-onset sepsis (LOS) in 21.1%, blood culture negative LOS in 21.3%, severe intraventricular hemorrhage in 5.4% and severe retinopathy of prematurity in 11.1%. Hemodynamically significant patent ductus arteriosus was diagnosed in 24.8% of infants. Antenatal steroids were administered to 42.9% of mothers. CONCLUSION: The present investigation is the first multicenter study to include epidemiological information on VLBW infants in Turkey. Morbidity rate in VLBW infants is a serious concern and higher than those in developed countries. Implementation of oxygen therapy with appropriate monitoring, better antenatal and neonatal care and control of sepsis may reduce the prevalence of neonatal morbidities. Therefore, monitoring standards of neonatal care and implementing quality improvement projects across the country are essential for improving neonatal outcomes in Turkish NICUs.

Pediatric pleural tuberculosis.

Background: Pleural tuberculosis (TB) diagnosis is sometimes controversial because the microbiologic confirmation ratio is very low in pleural fluid. There are few pediatric pleural TB case series in the literature. Methods: We retrospectively evaluated our TB cases below 18 years of age and extracted pleural TB cases. Results: Seven cases with pleural TB were identified. About 42.9% of the patients had isolated pleural TB whereas 57.1% of the patients had accompanying pulmonary TB. Lymphocytic pleural effusion and increased adenosine deaminase (ADA) (>40 U/L) level are found in 85.7% of the patients. Six patients had uncomplicated effusion (transudate) according to Light's criteria and one had complicated effusion (exudate). Lung decortication was needed in three patients. All patients were given 6 months anti-TB medication and recovered completely. Conclusion: In the lymphocyte-predominant pleural effusion, an increased ADA level highly supported TB disease. The complicated effusion (exudate) in pleural TB is not rule; uncomplicated effusion (transudate) could be seen.

Neonatal adrenal insufficiency: Turkish Neonatal and Pediatric Endocrinology and Diabetes Societies consensus report.

It is difficult to make a diagnosis of adrenal insufficiency in the newborn, because the clinical findings are not specific and the normal serum cortisol level is far lower compared to children and adults. However, dehydratation, hyperpigmentation, hypoglycemia, hyponatremia, hyperkalemia and metabolic acidosis should suggest the diagnosis of adrenal insufficiency. Hypotension which does not respond to vasopressors should especially be considered a warning. If the adrenocorticotropin hormone level measured simultaneously with a low serum cortisol level is 2-fold higher than the upper normal limit of the reference range, a diagnosis of primary adrenal insufficiency is definite. Even if the serum cortisol level is normal, a diagnosis of relative adrenal insufficiency can be made with clinical findings, if the patient is under heavy stress. The serum cortisol level should be measured using the method of 'high pressure liquid chromatography' or 'LC mass spectrometry'. Adrenal steroid biosynthesis can be evaluated more specifically and sensitively with 'steroid profiling'. Rennin and aldosterone levels may be measured in addition to serum electrolytes for the diagnosis of mineralocorticoid insufficiency. Adrenocorticotropic hormone stimulation test may be used to confirm the diagnosis and elucidate the etiology. In suspicious cases, treatment can be initiated without waiting for the adrenocorticotropic hormone stimulation test. In schock which does not respond to vasopressors, intravenous hydrocortisone at a dose of 50-100 mg/m2 or a glucocorticoid drug at an equivalent dose should be initiated. In maintanence treatment, the physiological secretion rate of hydrocortisone is 6 mg/m2/day (15 mg/m2/day in the newborn). The replacement dose should be adjusted with clinical follow-up and by monitoring growth rate, weight gain and blood pressure. Fludrocortisone (0,1 mg tablet) is given for mineralocorticoid treatment (2x0,5-1 tablets). A higher dose may be needed in the neonatal period and in patients with aldosterone resistance. If hyponatremia persists, oral NACl may be added to treatment. In the long-term follow-up, patients should carry an identification card and the glucocorticoid dose should be increased 3-10-fold in cases of stress.