Early puberty paradox: an investigation of anxiety levels of mothers and children, children's quality of life, and psychiatric diagnoses

Early puberty signs lead to an increase in anxiety levels of parents and children. The aim of this study was to investigate the quality of life and anxiety levels of girls and their mothers who were admitted to a pediatric endocrinology clinic with concerns about early puberty. Girls and their mothers who were admitted to endocrinology outpatient clinic with concerns about early puberty were compared to healthy control group. Screen for Child Anxiety Related Emotional Disorders (SCARED) parent form, Quality of Life for Children Scale (PedsQL) parent form, and Beck Anxiety Inventory (BAI) were administered to the mothers. Children were evaluated with the Schedule for Afective Disorders and Schizophrenia for School-Age Children (Kiddie-SADS Lifetime Version) (K-SADS-PL). The study sample consisted of 92 girls and 62 of them were administered to clinic with concerns about early puberty. There were 30 girls in early puberty group (group 1), 32 girls were in the normal development group (group 2), and 30 were in the healthy control group (group 3). The anxiety level of group 1 and group 2 was signifcantly higher, and their quality of life was signifcantly lower when compared to group 3 (p<0.001). Mother’s anxiety level was found signifcantly higher in group 2 (p<0.001). It has shown that anxiety level and quality of life of children were associated with anxiety level of mothers and the current Tanner stage (r=0.302, p<0.005). Conclusion: Mothers and children who have concerns about early puberty are negatively afected when early puberty is a possibility. For this reason, educating parents will prevent negative impacts of this situation on children. At the same time, it will decrease health burden

Evaluation and management of neonatal onset hyperinsulinemic hypoglycemia: a single neonatal center experience

Objectives: To evaluate the clinical characteristics and treatment options of neonates requiring prolonged hospitalization due to persistent hyperinsulinemic hypoglycemia (HH). Methods: This retrospective cohort study included infants >34 weeks of gestation at birth who were born in our hospital between 2018 and 2021, diagnosed with HH, and required diazoxide within the first 28 days of life. The baseline clinical characteristics, age at the time of diagnosis and treatment options in diazoxide resistance cases were recorded. Genetic mutation analysis, if performed, was also included. Results: A total of 32 infants diagnosed with neonatal HH were followed up. Among the cohort, 25 infants were classified as having transient form of HH and seven infants were classified as having congenital hyperinsulinemic hypoglycemia (CHI). Thirty-one percent of the infants had no risk factors. The median birth weight was significantly higher in the CHI group, whereas no differences were found in other baseline characteristics. Patients diagnosed with CHI required higher glucose infusion rate, higher doses, and longer duration of diazoxide treatment than those in the transient HH group. Eight patients were resistant to diazoxide, and six of them required treatment with octreotide and finally sirolimus. Sirolimus prevented the need of pancreatectomy in five of six patients without causing major side effects. Homozygous mutations in the ABCC8 gene were found in four patients with CHI. Conclusions: The risk of persistent neonatal hyperinsulinism should be considered in hypoglycemic neonates particularly located in regions with high rates of consanguinity. Our study demonstrated sirolimus as an effective treatment option in avoiding pancreatectomy in severe cases

Congenital Lipoid Adrenal Hyperplasia: Functional Characterization of Three Novel Mutations in the STAR Gene

AbstractContext: The steroidogenic acute regulatory protein (StAR) has been shown to be essential for steroidogenesis by mediating cholesterol transfer into mitochondria. Inactivating StAR mutations cause the typical clinical picture of congenital lipoid adrenal hyperplasia.Objective: The objective of the investigation was to study the functional and structural consequences of three novel StAR mutations (p.N148K in an Italian patient; p.P129fs and p.Q128R in a Turkish patient).Methods and Results: Transient in vitro expression of the mutant proteins together with P450 side-chain cleavage enzyme, adrenodoxin, and adrenodoxin reductase yielded severely diminished cholesterol conversion of the p.N148K mutant, the combined p.P129fs and p.Q128R mutant, and the p.P129fs mutant by itself. The p.Q128R mutant led to a higher cholesterol conversion than the wild-type StAR protein. As derived from three-dimensional protein modeling, the residue N148 is lining the ligand cavity of StAR. A positively charged lysine residue at position 148 disturbs the hydrophobic cluster formed by the α4-helix and the sterol binding pocket. The frame shift mutation p.P129fs truncates the StAR protein. Residue p.Q128 is situated at the surface of the molecule and is not part of any functionally characterized region of the protein.Conclusion: The mutations p.N148K and p.P129fs cause adrenal insufficiency in both cases and lead to a disorder of sex development with complete sex reversal in the 46, XY case. The mutation p.Q128R, which is not relevant for the patient's phenotype, is the first reported variant showing a gain of function. We speculate that the substitution of hydrophilic glutamine with basic arginine at the surface of the molecule may accelerate cholesterol transfer

Tip 1 diyabetli çocuk ve adölesan hastalarda serum sistatin-c kemik metabolizması ile ilişkisi

TEZ7328Tez (Yandal Uzmanlık) -- Çukurova Üniversitesi, Adana, 2009.Kaynakça (s.78-91) var.ix, 94 s. ; 29 cm.Type-1 diabetes mellitus is one of the most common chronic diseases of childhood. In the present study, the effect of type-1 diabetes on bone metabolism was investigated. A total of 66 type-1 diabetes patients who had a mean age of 14,13±3,06 and followed for at least 5 years, and 29 healthy children who had a mean age of 12,81±3,11 included in the study. The mean of lumber vertebra and femur neck region and bone mineral density were measured with Dual energy X-ray absorptiometry. In addition, serum cystatin-C, bone specific alkaline phosphatase, osteocalcin, ?-crosslab, pyridinoline, deoxypyridinoline, and hydroksyproline were measured. The measurement of lumber vertebral region revealed normal in 70.4 % of the patients, while was osteopenic in the remaining 29,6 % of patients. The measurement of femur neck region revealed normal in 77,3 % of the patients, while was osteopenic in the remaining 22,7 % of patients. Since none of them had history of bone fracture, they were not accepted as osteoporosis...Amaç: Tip 1 diyabet çocukluk çağının en sık rastlanan kronik hastalıklarından biridir. Bu çalışmada tip 1 diyabetin kemik metabolizmasına olan etkileri incelendi. Gereç ve Yöntem: Beş yıl ve üstünde tip 1 diyabet tanısıyla izlenen ortalama yaşları 14,13±3,06 olan 66 hasta ile ortalama yaşları 12,81±3,11 olan 29 sağlıklı çocuk ve adölesan alındı. Hastaların Dual energy X-ray absorpsiyometri ile lomber vertebra ve femur boynu bölgesi ortalaması alınarak kemik mineral yoğunluğu ölçüldü. Serum sistatin-C ile birlikte biyokimyasal kemik belirteçlerinden kemik spesifik alkalen fosfataz, osteokalsin, ?-crosslab, piridinolin, deoksipiridinolin ve hidroksiprolin düzeyleri ölçüldü. Bulgular: Lomber vertebra bölgesi ölçümleri ile hastaların % 70,4'ünün normal sınırlarda olduğu ve kalan % 29,6'sının ise osteopenik olduğu saptandı. Femur boynu ölçümlerine göre ise hastaların % 77,3'ünün normal geri kalan % 22,7'nin ise osteopenik olduğu görüldü. Geçirilmiş kırık öyküsü bulunmadığından hastaların hiç biri osteoporoz olarak değerlendirilmedi...Bu çalışma Ç.Ü. Bilimsel Araştırma Projeleri Birimi Tarafından Desteklenmiştir. Proje No:TF2007LTP2

Digoxin Toxicity in a 14 Days Old Newborn: A Case Report

Digoxin is one of the most commonly used positive inotropic agent. Digitalis toxicity may occur easily because of digoxin has a narrow therapeutic window. Digitalis toxicity may result during treatment with digoxin or from accidental overdose of digoxin. An elevated serum level of digoxin (>2ng/ml) is likely to be associated with toxicity, overdose of digoxin (>5ng/ml) may lead to life-threatening arrhythmias. A 14-days old newborn with VSD, which had been prescribed the droplet form of digoxin but given the tablet form by the drugstore, was diagnosed as digitalis toxicity and hospitalized to our clinic. His mother expressed that she had given two tablets mashed with spoon and diluted. Bradycardia and grade 3/6 pansystolic murmur was determined in physical examination. Digoxin level in serum was >5 ng/ml and there was third degree atrioventricular block in ECG findings. The case has been presented to emphasize the importance of better evaluation of digoxin indications and making families of the patients conscious of the usage of digoxin

Investigation of the effect of comorbid psychopathologies on glycemic control in children and adolescents with type 1 diabetes mellitus

Objective: The presence of comorbid psychiatric conditions in chronic diseases makes the management of the disease difficult. Our study, we aimed to examine the relationship between psychiatric comorbid conditions and glycemic control in children and adolescents with Type 1 Diabetes. Method: In our study, depending on the number of patients, good and moderate controls were evaluated as a single group, and HbA1c levels of 8.5 and below were included in this group. Children for Depression Inventory (CDI), Screen for Child Anxiety-Related Emotional Disorders (SCARED), Turgay Child and Adolescent Behavioral Disorders Based on DSM-IV Screening and Evaluation Scale were applied. The case and parents were evaluated with K-SADS-PL.Among 778 diabetic patients who were followed up in the pediatric endocrinology clinic, 73 cases between the ages of 8 and 17 who were followed up regularly, who did not have any comorbidities and who accepted to participate in the study were evaluated psychiatrically. Results: Of the 73 cases included in the study, 29 were accepted as the patients with good glycemic control (HbA1c 8.5mg / dl). In cases with poor glycemic control, parents' education level and income level were significantly lower, while the rate of attention deficit and hyperactivity disorder, major depressive disorder, social anxiety disorder and psychopathology was significantly higher. Discussion: The findings of this study revealed that there are many factors affecting glycemic control and there is a strong relationship between glycemic control and psychopathologies

Bone Mineral Density in Adolescent Girls with Hypogonadotropic and Hypergonadotropic Hypogonadism

Objective: Deficiency of sex steroids has a negative impact on bone mineral content. In studies conducted on postmenopausal women and animal studies, elevated follicle-stimulating hormone (FSH) levels were found to be correlated with a decrease in bone mineralization and osteoporosis. The aim of the present study was to evaluate bone mineral density (BMD) in adolescent girls with hypogonadotropic and hypergonadotropic hypogonadism and also to investigate the correlation between FSH level and BMD. Methods: The study group included 33 adolescent girls with hypogonadism (14 with hypogonadotropic hypogonadism and 19 with hypergonadotropic hypogonadism). FSH, luteinizing hormone, estradiol levels, and BMD (using dual energy x-ray absorptiometry) were measured. Results: There were no statistically significant differences between the chronological age and bone age of the two patient groups, namely, with hypogonadotropic and hypergonadotropic hypogonadism. There was also no significant difference between BMD z-score values obtained from measurements from the spine and the femur neck of patients in the two groups (p-values were 0.841 and 0.281, respectively). In the hypergonadotropic group, a moderately negative correlation was detected between FSH level and BMD z-score measured from the femur neck (ρ=-0.69, p=0.001), whilst no correlation was observed between FSH levels and height adjusted BMD-z scores measured from the spine (ρ=0.17, p=0.493). FSH level was not found to be an independent variable affecting BMD z-score. Conclusion: BMD z-scores were detected to be similar in adolescent girls with hypogonadotropic and hypergonadotropic hypogonadism, and FSH levels were not found to have a clinically relevant impact on BMD.PubMedWoSScopu