Aim
We aimed to evaluate the risk of developing adolescent scoliosis among recipients of recombinant human growth hormone (rhGH).
Methods
This registry‐based cohort study included 1314 individuals ...who initiated rhGH treatment since 2013, treated during 10–18 years of age for at least 6 months. This group was matched to a comparison group of 6570 individuals not treated with rhGH. Demographic and clinical information was extracted from the electronic database. The results are presented using hazard ratios (HR) and 95% confidence intervals (CI).
Results
During a median follow‐up of 4.2 years, 59 (4.5%) rhGH recipients and 141 individuals (2.1%) from the comparison group were diagnosed with adolescent scoliosis. The age at diagnosis did not differ between the groups (14.7 versus 14.3 years, p = 0.095). Patients treated with rhGH were more likely diagnosed with scoliosis (HR 2.12, 95% CI 1.55–2.88, p < 0.001). Among males, the risk was about three times greater in the treated versus the comparison group (HR 3.15, 95% CI 2.12–4.68, p < 0.001), while in females the risk was not increased (HR 1.12, 95% CI 0.72–2.04, p = 0.469).
Conclusions
Recombinant human growth hormone treatment was associated with an increased risk to be diagnosed with adolescent scoliosis in males. Scoliosis development should be monitored appropriately in rhGH recipients.
Aim
Children with inflammatory bowel disease (IBD) are prone to low bone mineral density (BMD). Our aim was to assess longitudinal changes in BMD in this population.
Methods
A retrospective ...longitudinal study of children with IBD, treated at two tertiary centres in Israel, who underwent two BMD measurements by dual‐energy X‐ray absorptiometry (DXA). Changes in lumbar spine BMD (∆L1‐4 z‐scores) were examined for correlations with clinical characteristics.
Results
The cohort included 41 patients (age at diagnosis 12.1 ± 3.5 years, 23 females).The mean interval between the scans was 3.4 ± 2.0 years. There was a trend towards improvement in L1‐4 z‐scores (−1.64 ± 1.02 vs −1.45 ± 0.83, P = .12). ∆L1‐4 z‐scores correlated positively with ∆weight‐standard deviation scores (SDS), ∆height‐SDS and ∆BMI‐SDS, and with age at the second scan (R = .55, P < .01; R = .42, P < .01; R = .42, P = .01; R = .35, P = .02, respectively); and negatively with L1‐4 z‐scores at the first scan (R = −.63, P < .01). Stepwise linear regression analysis identified the first scan L1‐4 z‐scores and ∆weight‐SDS as independent predictors of ∆L1‐4 z‐scores. An L1‐4 z‐score ≤−2 at the first DXA scan was associated with significant improvement at the second scan.
Conclusion
Improvement in BMD was more pronounced in children who gained weight or whose BMD was low at the first scan.
Neonatal osteoma cutis due to a mutation in GNAS Levy‐Shraga, Yael; Barel, Ortal; Javasky, Elisheva ...
Pediatric dermatology,
September/October 2019, 2019-Sep, 2019-09-00, 20190901, Letnik:
36, Številka:
5
Journal Article
Recenzirano
We describe a 4‐week‐old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, ...phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism.
Aim
Endocrine abnormalities in Williams–Beuren syndrome (WBS) include growth retardation, precocious puberty, hypercalcaemia and thyroid disorders. We aimed to characterise these abnormalities in a ...national cohort of children with WBS.
Methods
A retrospective study comprising a national cohort of individuals with WBS in Israel (16 males, 18 females) followed between 2010 and 2016.
Results
The age at diagnosis of WBS was 1.4 ± 1.0 years. Height standard deviation score (SDS) at last visit was correlated with the midparental height SDS (r = 0.46 p = 0.007). Yet, participants did not reach their midparental height, with a difference of 1.40 ± 0.85SD (p < 0.001). Short stature below the 3rd percentile was found in 14 participants (41%). Mean insulin‐like growth factor 1 SDS was low (−0.61 ± 1.64) and was correlated with the mean height SDS (r = 0.63 p = 0.038). Two participants were diagnosed with growth hormone deficiency, and initiation of growth hormone treatment improved their height velocity. A total of eight participants (23.5%) had mild hypercalcaemia, five girls (14.7%) had precocious puberty and five participants (14.7%) had thyroid abnormalities.
Conclusion
Individuals with WBS had a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low‐normal range. Precocious puberty, hypercalcaemia and thyroid abnormalities should be screened for and treated as needed.
Background
Data regarding glycemic control in children and adolescents with a dual diagnosis of type 1 diabetes mellitus (T1DM) and attention‐deficit/hyperactivity disorder (ADHD) are limited.
...Objective
To compare various aspects of diabetes control among youth with T1DM, between those with and without ADHD.
Methods
In this cross‐sectional study of youth with T1DM, 39 had ADHD (mean age 14.1 ± 2.8 years) and 82 did not (control group, mean age 12.6 ± 3.3 years). Health‐related quality of life was assessed by a Diabetes Quality of Life (DQOL) questionnaire submitted to their parents. Glycemic data were downloaded from glucometers, pumps, and continuous glucose monitoring systems. HbA1c levels, hospitalizations, and severe hypoglycemic and diabetes ketoacidosis events were retrieved from the medical files.
Results
Compared to the control group mean HbA1c level of the ADHD group was higher: 8.3 ± 1.1% versus 7.7 ± 1.0% (p = 0.005) and the percent of time that glucose level was in the target range (70–180 mg/dl) was lower: 48 ± 17% versus 59 ± 14% (p = 0.006). Mean glucose and glucose variability were higher in the ADHD group. Youth with ADHD who were not pharmacologically treated had worse HbA1c and more hospitalizations than those who were treated. DQOL did not differ between the control group, the treated ADHD group, and the untreated ADHD‐Group.
Conclusions
Dual diagnosis of T1DM and ADHD during childhood leads to worse diabetes control, which is more pronounced in the context of untreated ADHD. Healthcare providers should be aware of the difficulties facing youth with T1DM and ADHD in coping with the current intensive treatment of diabetes.
22q11.2 deletion syndrome (22q11.2DS) has a wide range of clinical features including endocrine abnormalities. We aimed to characterize growth patterns, hypoparathyroidism, and thyroid dysfunction of ...individuals with 22q11.2DS. Anthropometric and laboratory measurements were obtained from the charts of 48 individuals (males=28, 8.0±6.8 visits/participant) followed at a national 22q11.2DS clinic between 2009 and 2016. Age at diagnosis was 4.3±4.9 years and age at last evaluation 11.2±7.2 years. Median height‐SDS was negative at all ages. Height‐SDS at last visit was correlated to the midparental height‐SDS (r=0.52 P=0.002). Yet, participants did not reach their target height, with a difference of 1.06±1.07 SD (P <0.0001). Height‐SDS at last visit of participants with a heart defect was lower compared to participants with a normal heart (−1.5±1.4 vs. −0.6±0.8, P=0.036), with lower height‐SDS in the subgroup of participants with severe heart defects (−2.1±1.6, P=0.009). Mean IGF1‐SDS was low (−0.99±1.68) but was not correlated with height‐SDS. Thirteen patients (27%) had hypoparathyroidism: 10 presented during infancy and 3 during adolescence. Five patients (10.4%, female=4) had thyroid abnormalities. In conclusions, individuals with 22q11.2 DS have a distinct growth pattern consisting of growth restriction at all ages, resulting in final adult height in the low‐normal range. Hypoparathyroidism is common and may present during the neonatal period as well as later in life. Thyroid abnormalities may present during childhood, adolescence, or adulthood.
Eating disorders （ED） are characterized by a persistentdisturbance of eating that impairs health or psychosocialfunctioning. They are associated with increased rates ofmedical complications and ...mortality. Insulin omission isa unique purging behavior available to individuals withtype 1 diabetes mellitus （T1DM）. The standard treatmentregimen for T1DM requires a major focus on food andeating patterns. Moreover, intensive insulin therapy isassociated with increasing body weight. These factors,combined with the psychological burden of chronicdisease management and depression, may contribute toED. The comorbidity of ED in T1DM patients is associatedwith poorer glycemic control and consequently higherrates of diabetes complications. Early recognition andadequate treatment of ED in T1DM is essential.
Ataxia telangiectasia (AT) is a genetic multisystem disorder, presenting with progressive ataxia, immune deficiency, and propensity toward malignancy. Endocrine abnormalities (growth retardation, ...reproductive dysfunction, and diabetes) have been described, however detailed information regarding this aspect is lacking. We aimed to characterize endocrine anomalies and growth patterns in a large cohort of AT patients.
Retrospective study comprising all 52 patients (aged 2-26.2 y) followed at a national AT Clinic. Anthropometric and laboratory measurements were extracted from the charts.
Median height-SDS was already subnormal during infancy, remaining negative throughout follow up to adulthood. Height-SDS was more impaired than weight-SDS up to age 4 y, thereafter weight-SDS steadily decreased, resulting in progressively lower BMI-SDS. IGF-I-SDS was low (-1.53 ± 1.54), but did not correlate with height-SDS. Gonadal failure was present in all 13 females older than 10 y but only in one male. Two patients had diabetes and 10 had dyslipidemia. Vitamin D deficiency was observed in 52.2% of the evaluated patients.
Our results suggest a primary growth abnormality in AT, rather than secondary to nutritional impairment or disease severity. Sex hormone replacement should be considered for female patients. Vitamin D levels should be followed and supplementation given if needed.
A new syndrome of diabetes, short stature, microcephaly and intellectual disability has been described in association with mutations in the tRNA methyltransferase 10 homologue A (TRMT10A) gene. We ...report a patient who presented with fasting hyperglycemia, a raised hemoglobin A1c and positive islet cell autoantibodies. Additional clinical features included intellectual disability, hypoplastic kidneys and short stature. In view of the syndromic features coexistant with diabetes, genetic evaluation was carried out, revealing a homozygous mutation in the TRMT10A gene (c.616G>A, p.G206R). The case highlights the importance of genetic evaluation of patients with diabetes with atypical features that can further progress our understanding of the pathophysiology of the rarer subtypes of diabetes.
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