Severe adrenal insufficiency in six neonates with normal newborn screening for CAH.

BACKGROUND: Newborn screening (NBS) reduces the risk of mortality in congenital adrenal hyperplasia (CAH), mainly due to the salt-wasting form of 21-hydroxylase deficiency. There is limited knowledge regarding the results of NBS in non-CAH primary adrenal insufficiency (non-CAH PAI). PATIENTS AND METHODS: Clinical and NBS for CAH data of neonates who were diagnosed with non-CAH PAI between January and December 2022 were examined. RESULTS: Patients (n = 6, 4 females) were presented with severe hyperpigmentation (n = 6), hypoglycemia (n = 4), hyponatremia (n = 3), hyperkalemia (n = 1), respiratory distress syndrome (n = 1) between 3rd hour to 2 months of life. All had normal NBS results. The median first-tier 17-hydroxyprogesterone (17OHP) concentration in NBS for CAH was 0.14 ng/mL (range; 0.05-0.85). Molecular studies revealed biallelic mutations in the MC2R (n = 4; 3 homozygous, 1 compound heterozygous), MRAP (n = 1) and STAR (n = 1) genes. Glucocorticoid with or without mineralocorticoid replacement was initiated once the diagnosis of non-CAH PAI was established. CONCLUSION: Neonates with non-CAH PAI have always normal NBS due to persistently low 17OHP, even when these newborn infants are severely symptomatic for adrenal insufficiency. Clinicians should be alert for signs of adrenal insufficiency in neonates, even if the patient has a 'normal' screening for CAH, so as not to delay diagnosis and treatment. This fact should be kept in mind particularly in countries where these conditions are more common than elsewhere.

Which factors accompany maternal acceptance-rejection in children with specific learning disabilities?

BACKGROUND: Children with specific learning disabilities (SLDs) and their parents experience many problems that may influence their interactions. The study aimed to evaluate the maternal acceptance/rejection status of children with SLDs and their associations with sociodemographic characteristics, and problem behaviors. METHODS: The Parental Acceptance-Rejection/Control Questionnaire (PARQ/C) and Strengths and Difficulties Questionnaire (SDQ) were applied to the mothers with children aged 7-17 years with a diagnosis of SLD. RESULTS: Among 266 children enrolled, the mean age was 10.2 years, and 61.7% were male, the mean score was 30.4 for warmth/affection, 25.8 for hostility/aggression, 22.9 for indifference/neglect, 16.3 for undifferentiated rejection, 95.4 for the total PARQ, and 40.8 for the control scales. Generalized linear models revealed that maternal depression, poor family income, parental smoking, and presence of dysgraphia, and poor total difficulties and prosocial scores of SDQ subscales were associated with the maternal acceptance-rejection. There was an interaction between the maternal control subscale and the school success of the child. CONCLUSION: Mothers of children with SLDs had high maternal rejection scores which were associated with unfavorable characteristics of child and family. Early detection and giving appropriate support of these cases could improve the mother's relationship with her SLD child.

Change of Helicobacter pylori prevalence in a decade among children undergoing endoscopy.

Our aim was to investigate the trend of H. pylori infection among children during the last decade by a retrospective analysis. Reports of children in whom esophago-gastroduodenoscopy was performed at our institution during two periods 2002-2003 and 2012-2013 were seperated into Group I and Group II, respectively. Pathology reports were investigated for gastritis, atrophy and H. pylori presence. A total of 380 children, 131 in Group I and 249 in Goup II were recruited in the study. H. pylori postivity was found to be higher in Group I (% 48.1 and % 23.1, respectively, p < 0.001). Gastritis and atrophy were associated with H. pylori and both were more prevalent in Group I (p < 0.001). Our study demonstrates that H. pylori prevalence is decreasing in a pediatric population undergoing EGD in Ankara. This is the most recent study regarding pediatric H. pylori prevalence change in Turkey that we know of.