Context:
Primary adrenal insufficiency (PAI) is a life-threatening condition that is often due to monogenic causes in children. Although congenital adrenal hyperplasia occurs commonly, several other ...important molecular causes have been reported, often with overlapping clinical and biochemical features. The relative prevalence of these conditions is not known, but making a specific diagnosis can have important implications for management.
Objective:
The objective of the study was to investigate the clinical and molecular genetic characteristics of a nationwide cohort of children with PAI of unknown etiology.
Design:
A structured questionnaire was used to evaluate clinical, biochemical, and imaging data. Genetic analysis was performed using Haloplex capture and next-generation sequencing. Patients with congenital adrenal hyperplasia, adrenoleukodystrophy, autoimmune adrenal insufficiency, or obvious syndromic PAI were excluded.
Setting:
The study was conducted in 19 tertiary pediatric endocrinology clinics.
Patients:
Ninety-five children (48 females, aged 0–18 y, eight familial) with PAI of unknown etiology participated in the study.
Results:
A genetic diagnosis was obtained in 77 patients (81%). The range of etiologies was as follows: MC2R (n = 25), NR0B1 (n = 12), STAR (n = 11), CYP11A1 (n = 9), MRAP (n = 9), NNT (n = 7), ABCD1 (n = 2), NR5A1 (n = 1), and AAAS (n = 1). Recurrent mutations occurred in several genes, such as c.560delT in MC2R, p.R451W in CYP11A1, and c.IVS3ds+1delG in MRAP. Several important clinical and molecular insights emerged.
Conclusion:
This is the largest nationwide study of the molecular genetics of childhood PAI undertaken. Achieving a molecular diagnosis in more than 80% of children has important translational impact for counseling families, presymptomatic diagnosis, personalized treatment (eg, mineralocorticoid replacement), predicting comorbidities (eg, neurological, puberty/fertility), and targeting clinical genetic testing in the future.
We aimed to determine the association of thyroid functions with the components of metabolic syndrome (MS) and non-alcoholic fatty liver disease (NAFLD) in pediatric obese patients.
The study included ...109 obese children (aged 9-15 years) and a control group of 44 healthy age and gender-matched children of normal weight. NAFLD was diagnosed by conventional ultrasound examination. We assessed the anthropometric data and serum biochemical parameters including lipid profile, alanine aminotransferase (ALT), fasting glucose and insulin levels and thyroid stimulating hormone (TSH), free thyroxine (fT4) and free triiodothyronine (fT3) levels. The homeostasis model assessment of insulin resistance (HOMA-IR) was calculated as a measure of IR.
The mean age and gender distributions in the groups were similar (p=0.23). The mean body mass index (BMI) z-scores of obese children with grade 2-3 NAFLD were significantly higher than those of the obese children without hepatic steatosis (p<0.001). Mean ALT, triglyceride (TG) and LDL cholesterol increased and HDL-cholesterol significantly decreased as the hepatic steatosis increased (p<0.05). HOMA-IR levels in obese subjects with grade 2-3 NAFLD were significantly higher than those in both obese children without NAFLD and grade 1 NADFL (p=0.05 and 0.001, respectively). In the obese subjects, TSH levels were increased significantly as the degree of steatosis increased (p=0.04) but fT3 and fT4 levels were not different. In correlation analysis, TSH was significantly correlated with ALT, BMI SDS and the degree of steatosis.
Obese children demonstrate an increase in TSH levels as the degree of steatosis increased.
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IZUM, KILJ, NUK, PILJ, PNG, SAZU, UL, UM, UPUK
Congenital agenesis of the scrotum and labia majora is very exceptional. To date, only 6 cases of scrotal agenesis have been reported. To our knowledge, the anomalies of the labioscrotal folds in ...siblings have not yet been reported. We report the complete agenesis of the scrotum and labia majora within the 3 members of the same family. Additionally, successful reconstruction of the neoscrotum was performed for the first time for congenital scrotal agenesis.
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GEOZS, IJS, IMTLJ, KILJ, KISLJ, NUK, OILJ, PNG, SAZU, SBCE, SBJE, UL, UM, UPCLJ, UPUK
Abstract
Aim
The exact mechanisms that trigger the onset of puberty are not well known. Adipomyokines are postulated to stimulate the central neural network. In the present study, we investigated ...irisin levels in girls with central precocious puberty (CPP), slowly progressing precocious puberty (SPPP), or premature thelarche (PT); we also studied prepubertal girls and to determine if this adipomyokine could be used as a marker in this context.
Methods
A total of 94 girls including 33 with CPP, 31 with precocious puberty (PP) variants (SPPP or PT), and 30 healthy controls were enrolled to the study. The mean irisin levels were compared between groups. The bivariate correlations of irisin levels with clinical and laboratory parameters were assessed. Multivariate linear regression analysis was performed to determine independent predictive factors of irisin levels.
Results
Irisin levels were higher in the CPP group compared with the other groups (CPP group: 723.25 ± 62.35 ng/mL; PP variants group: 529.60 ± 39.66 ng/mL; and control group: 325.03 ± 27.53 ng/mL) (P < 0.001). Irisin levels were positively correlated with body mass index standard deviation scores (BMI-SDS), height-SDS, weight-SDS, bone age, uterus long axis, ovary size, baseline FSH and LH, and peak LH levels. Multivariate linear regression analysis revealed that irisin levels had the strongest correlation with peak LH. The other independent predictive factor of irisin levels was BMI-SDS.
Conclusions
The mean irisin levels were higher in patients with CPP compared with other groups. The results of this study imply that increased irisin levels may be used as a marker of CPP provided that these findings are confirmed in larger prospective studies.
Background
Adipokines have been suggested to play an important role in the pathogenesis of polycystic ovarian syndrome (PCOS). Omentin is an adipokine secreted essentially by visceral adipose tissue ...with an insulin‐sensitizing effect. Insulin resistance (IR) is a common feature of PCOS, therefore the aim of this study was to investigate omentin‐1 level in adolescent girls with PCOS and its relationship with IR and androgens.
Method
A total of 41 obese girls with PCOS, and 30 age‐ and body mass index (BMI)‐matched obese girls without PCOS were enrolled in the study. The demographic, clinic and laboratory characteristics of the groups were compared. Additionally, bivariate correlation analysis of omentin‐1 with BMI standard deviation score (BMI‐SDS), insulin, glucose, homeostatic model assessment of IR (HOMA‐IR), total and free testosterone was performed.
Results
In the PCOS group HOMA‐IR, free and total testosterone were higher than in the control group. Omentin‐1 was lower in the PCOS group compared with the controls (55.01 ± 7.99 ng/mL vs 59.10 ± 7.02 ng/mL, respectively; P = 0.027). Omentin‐1 was inversely correlated with free testosterone (r = −0.527, P = 0.030) and BMI‐SDS (r = −0.241, P = 0.046) but it was not correlated with total testosterone, HOMA‐IR, glucose, insulin or serum lipids.
Conclusion
Omentin‐1 was lower in obese girls with PCOS and hyperandrogenism was associated with this condition.
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FZAB, GIS, IJS, KILJ, NLZOH, NUK, OILJ, SBCE, SBMB, UL, UM, UPUK
Objectives
To evaluate the relationship between pain inflammation due to dental caries and growth parameters, sleep disturbances, and oral health-related quality of life (OHRQoL) in preschool ...children before/after dental treatment and compare the results with the control group.
Materials and methods
Study (pain inflammation due to caries) and control groups were included in this prospective clinical trial. The Child Sleep Habits Questionnaire (CSHQ) assessing sleep disturbances and the Early Childhood Oral Health Impact Scale (ECOHIS) assessing OHRQoL were applied in the corresponding time intervals to the study and control groups, respectively: baseline (T0
study
), 7 days after treatment (T1
study
), and following 6 months (T2
study
); baseline (T0
control
), and the following 6 months (T2
control
). Biochemical growth parameters (insulin-like growth factor-1 and insulin-like growth factor binding protein-3) and anthropometric measurements (standard deviation score of height, weight, and body mass index) were obtained at T0
study
, T2
study
, and T0
control
. Mann-Whitney U and the Student
t
-tests were used for statistical analyses. The significance level was set at
p
< 0.05.
Results
Data on 45 children (mean age: 55.6 ± 10.37 months) were analyzed. T2
study
was statistically higher than T0
study
for the anthropometric measurements and biochemical growth parameters (
p
< 0.05). T0
study
was statistically higher than T0
control
for biochemical growth parameters (
p
< 0.05). CSHQ and ECOHIS scores were found statistically significant at T0
study
than T0
control
(
p
< 0.05). Statistical scores of CSHQ and ECOHIS in T2
study
were significantly reduced compared to T0
study
(
p
< 0.05).
Conclusion
Children’s growth parameters, sleep disturbances, and OHRQoL improved after the elimination of pain and inflammation.
Clinical relevance
This study’s novelty is the observation of drastically increased growth parameters and reduced sleep disturbances following dental treatment.
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CMK, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, UKNU, UL, UM, UPUK, VKSCE, ZAGLJ
Objectives. We aimed to determine the relationship between insulin resistance and serum 25-hydroxyvitamin D (25-OHD) levels in obese children and their nonobese peers. Materials and Methods. Included ...in the study group were 188 obese children (aged 9–15 years), and 68 age- and gender-matched healthy children of normal weight as control group. Anthropomorphic data were collected on patients and fasting serum glucose, insulin, serum lipids, alanine aminotransaminase (ALT) and 25-OHD were measured. The homeostatic model assessment of insulin resistance (HOMA-IR) was calculated in both groups. Results. The levels of 25-OHD in the obese group were significantly lower than those of the nonobese (P=0.002). HOMA-IR, triglycerides, low-density lipoprotein, and ALT levels in the obese group were significantly higher than values of control group (P<0.001 and P=0.002, resp.). In the obese group, vitamin D deficiency, insufficiency, and sufficiency (25-OHD < 10 ng/dl, < 20, >10 ng/dl; > 20 ng/dl, resp.) were not correlated with HOMA-IR (r:−0.008, P=0.935). HOMA-IR was negatively correlated with BMI, BMI SDS, and BMI%, and triglycerides, low-density lipoprotein, and ALT levels (P<0.001). Conclusion. The insulin resistance of the obese subjects who were vitamin D deficient and insufficient did not statistically differ from those with vitamin D sufficiency. Low 25-hydroxyvitamin D levels were not related with higher insulin resistance in obese children and adolescents. In obese subjects, insulin resistance was affected more from BMI, BMI SDS, and BMI% than from 25-hydroxyvitamin D levels.
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FZAB, GIS, IJS, IZUM, KILJ, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBMB, UL, UM, UPUK
Children with type 1 diabetes mellitus (T1DM) have low physical activity levels and are at high risk for psychosocial morbidities, including depression, heightened anxiety and low health-related ...quality of life (HRQoL).
The aim of this study was to assess the associations of physical activity level with depression, anxiety, and HRQoL in children with T1DM.
A cross-sectional study design, including children with T1DM aged between 8 and 12 years and healthy controls, was used. Physical activity (PA) level was assessed with the Physical Activity Questionnaire for Older Children (PAQ-C). Anxiety was screened by The Screen for Anxiety Related Emotional Disorders (SCARED) questionnaire. Depressive symptoms were evaluated using the Children’s Depression Inventory (CDI). Quality of life was assessed with the The Pediatric Quality of Life Inventory 4.0 (PedsQL 4.0).
Forty-seven T1DM and 55 healthy children were included with mean ages of 9.87±1.63 and 9.56±1.60 years, respectively. The T1DM group had significantly higher depression and anxiety score (p<0.05) and lower HRQoL-child self-report score (p<0.05, for all) compared with the control group. Significant associations were found between PAQ-C and PedsQL 4.0 (p<0.05), between SCARED and PedsQL 4.0 (p<0.05), and between HbA1c and PedsQL 4.0 (p<0.05) in children with T1DM.
The result of our study suggested that only HRQoL was related to physical activity, anxiety and HbA1c in children with T1DM.
Background
Obesity is an important health issue, the prevalence of which is increasing in childhood. The aim of this study was to examine urinary renal injury markers in order to determine the renal ...effect of obesity and its comorbidities in a pediatric population.
Methods
Eighty-four obese children and 64 healthy control subjects were enrolled in the study. We checked their urine using
N
-acetyl-beta-
d
-glucosaminidase (NAG), neutrophil gelatinase-associated lipocalin (NGAL), kidney injury molecule-1 (KIM-1), and microalbumin as renal injury markers. Associations of renal damage markers with hypertension, an impaired glucose tolerance test, and insulin resistance were assessed.
Results
Obese individuals had higher urinary NAG and KIM-1 values compared to those of healthy controls (
p
= 0.027,
p
= 0.026). There was no difference in urinary NGAL between obese and lean subjects (
p
= 0.885). Urinary renal injury markers were not statistically different in the obese group when checked for impaired glucose tolerance, insulin resistance, and hypertension (
p
> 0.05).
Conclusions
This study shows that urinary NAG and KIM-1 could be used as a screening method for detection of early renal damage in obese children.
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DOBA, EMUNI, FIS, FZAB, GEOZS, GIS, IJS, IMTLJ, IZUM, KILJ, KISLJ, MFDPS, NLZOH, NUK, OILJ, PILJ, PNG, SAZU, SBCE, SBJE, SBMB, SBNM, SIK, UILJ, UKNU, UL, UM, UPUK, VKSCE, VSZLJ, ZAGLJ
10.
A Case with Laron Syndrome ÖZGEN, İlker Tolga; KUTLU, Esra; CESUR, Yaşar ...
Bezmialem science,
07/2019, Volume:
7, Issue:
3
Journal Article
Peer reviewed
Open access
Laron syndrome (LS) is a rare disorder leading to short stature as a result of growth hormone (GH) insensitivity. It is caused by mutations in
GH receptor gene and characterized by post-natal growth ...retardation, craniofacial abnormalities, high serum GH and low insulin-like growth
factor-I (IGF-I) levels. Several different genetic mutations have been documented up to date. In this article, a patient with LS is reported.
A 2-year-old female patient was admitted to the hospital with the complaint of short stature. Her height and weight was 71.7 cm <3 p., -4.09
standard deviations (SDS) and 9.7 kg (<3 p., -2.2 SDS) respectively. She had dysmorphic features such as maxillary hypoplasia, blue sclera,
small hands and feet, and extreme proportionate shortness. She had a high basal serum GH level (61.879 ng/mL), whereas serum IGF-I (<10
ng/mL) and IGF-binding protein 3 (<0.54 ng/mL) concentrations were significantly low. Both clinical and laboratory measurements were
consistent with LS. A missense variation leading to a stop codon (W182X) was determined in GH receptor gene. Recombinant IGF-I therapy
improved height z-score from -4.09 to -3.4 SDS after 24-month treatment.
In this report, we presented a case with LS. The description of a mutation in a specific region may be helpful in defining the genetic pattern of
other patients with LS and in determining whether it is a mutation with a founder effect that is unique in the Turkish population.
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