| 1. |
- Albin, Anna-Karin, et al.
(författare)
-
Estradiol and Pubertal Growth in Girls.
- 2012
-
Ingår i: Hormone research in paediatrics. - : S. Karger AG. - 1663-2826 .- 1663-2818. ; 78:4
-
Tidskriftsartikel (refereegranskat)abstract
- Aim: The objective of this study was to determine estradiol levels and assess their relationship to pubertal growth in girls. Methods: Thirty-seven 24-hour profiles of serum 17β-estradiol were retrospectively analyzed in relation to growth in 27 healthy girls admitted for short/tall stature (n = 20) or recruited as healthy volunteers at Göteborg Pediatric Growth Research Center (GP-GRC). Inclusion Criteria: Birth weight and length above -2 SDS, gestational age 37-42 weeks, prepubertal height and weight within ±3 SDS and normal growth hormone secretion. Serum estradiol was determined by a validated ultrasensitive extraction radioimmunoassay (detection limit 4 pmol/l). A sixth-grade polynomial was fitted to each girl's growth data. Growth velocity and age at peak height velocity (PHV) was calculated. Results: A dose-response model was used to find the morning 17β-estradiol level at which half of the maximal pubertal growth up to PHV had occurred, EC(50), which was 20 pmol/l with a 95% confidence interval of 13-31. When 17β-estradiol exceeds early pubertal levels (Tanner breast stage 2, 10-51 pmol/l), less than 25% of the potential pubertal growth velocity up to PHV remains. Conclusions: Morning 17β-estradiol in the low early pubertal range (13-31 pmol/l) is associated with increasing growth velocity.
|
|
| 2. |
- Barbaro, M, et al.
(författare)
-
Multiplex ligation-dependent probe amplification analysis of the NR0B1(DAX1) locus enables explanation of phenotypic differences in patients with X-linked congenital adrenal hypoplasia
- 2012
-
Ingår i: Hormone research in paediatrics. - : S. Karger AG. - 1663-2826 .- 1663-2818. ; 77:2, s. 100-107
-
Tidskriftsartikel (refereegranskat)abstract
- <i>Background/Aim:</i>X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadic hypogonadism. It is caused by deletions or point mutations of the <i>NR0B1 </i>gene, on Xp21. AHC can be associated with glycerol kinase deficiency, Duchenne muscular dystrophy and mental retardation (MR), as part of a contiguous gene deletion syndrome. A synthetic probe set for multiplex ligation-dependent probe amplification analysis was developed to confirm and characterize <i>NR0B1</i> deletions in patients with AHC and to correlate their genotypes with their divergent phenotypes. <i>Results:</i>In 2 patients, isolated AHC was confirmed, while a patient at risk for metabolic crisis was revealed as the deletion extends to the <i>GK</i> gene. A deletion extending to <i>IL1RAPL1</i> was confirmed in both patients showing MR. Thus, a good genotype-phenotype correlation was confirmed. <i>Conclusions:</i>Multiplex ligation-dependent probe amplification analysis is a valuable tool to detect <i>NR0B1</i> and contiguous gene deletions in patients with AHC. It is especially helpful for <i>IL1RAPL1 </i>deletion detection as no clinical markers for MR are available. Furthermore, multiplex ligation-dependent probe amplification has the advantage to identify female carriers that, depending on the deletion extension, have a high risk of giving birth to children with MR, AHC, glycerol kinase deficiency and Duchenne muscular dystrophy.
|
|
| 3. |
- Chaplin, John, 1955, et al.
(författare)
-
When Do Short Children Realize They Are Short? : Prepubertal Short Children's Perception of Height during 24 Months of Catch-Up Growth Hormone Treatment
- 2012
-
Ingår i: Hormone Research in Paediatrics. - : S. Karger AG. - 1663-2818 .- 1663-2826. ; 77:4, s. 241-249
-
Tidskriftsartikel (refereegranskat)abstract
- Aim: To examine perceived height during the first 24 months of growth hormone (GH) treatment in short prepubertal children. Methods: Ninety-nine 3- to 11-year-old short prepubertal children with either isolated GH deficiency (n = 32) or idiopathic short stature (n = 67) participated in a 24-month randomized trial of individualized or fixed-dose GH treatment. Children's and parents' responses to three perceived height measures: relative height (Silhouette Apperception Test), sense of height (VAS short/tall), and judgment of appropriate height (yes/no) were compared to measured height. Results: Children and parents overestimated height at start (72%, 54%) and at 24 months (52%, 30%). Short children described themselves as tall until 8.2 years (girls) and 9 years (boys). Prior to treatment, 38% of children described their height as appropriate and at 3 months, 63%. Mother's height, parental sense of the child's tallness and age explained more variance in children's sense of tallness (34%) than measured height (0%). Conclusion: Short children and parents overestimate height; a pivotal age exists for comparative height judgments. Even a small gain in height may be enough for the child to feel an appropriate age-related height has been reached and to no longer feel short.
|
|
| 4. |
|
|
| 5. |
- Ekbom, K, et al.
(författare)
-
Effects of midazolam and nitrous oxide on endocrine and metabolic measurements in children
- 2012
-
Ingår i: Hormone research in paediatrics. - : S. Karger AG. - 1663-2826 .- 1663-2818. ; 77:5, s. 309-319
-
Tidskriftsartikel (refereegranskat)abstract
- <b><i>Objective:</i></b> Pain, stress as well as drugs may affect metabolic and endocrine measurements, especially in stressed children. The aim was to study how release of glucose and stress hormones are affected when procedural sedation with nitrous oxide or midazolam are used for establishing intravenous access in obese and lean children. <b><i>Methods:</i></b> In a prospective, double-blind, randomized study 90 children, 60 obese and 30 growth-retarded (GR), aged 5–18 years, with reported anxiety or difficulties connected with i.v. access, were randomized to 1 of 3 groups: oral midazolam (0.3 mg/kg, max. 15 mg), 50% nitrous oxide (N<sub>2</sub>O), and 10% N<sub>2</sub>O. In addition, all children received anesthesia cream (EMLA®) locally 1 h before i.v. access. Blood samples were drawn at 4 time points during 30 min after establishing venous access and, when feasible, after 24 h. The 24-hour sample was regarded as obtained during unstressed condition. The effect of procedural sedation was analyzed. Children’s evaluations of pain (Numeric Rating Scale) and procedure (Likert Scale) were correlated with mean values of cortisol and glucose after i.v. access. For the metabolic and hormone control measurements, 60 children aged 4–18 years (40 obese and 20 GR) served as controls. These children underwent a 24-hour blood sampling and did not receive sedation. The control samples were drawn 10–12 h after i.v. access. <b><i>Results:</i></b> After midazolam, significantly lower cortisol levels were found compared to both 50% N<sub>2</sub>O and 10% N<sub>2</sub>O and to unstressed controls. The growth hormone levels decreased with time in the midazolam group compared to 50 and 10% N<sub>2</sub>O, where the effect of time was reversed. Glucose levels among GR children increased from 0 to 30 min, whereas the opposite was found in obese children regardless of treatment. A post hoc analysis demonstrated significant correlations between children’s evaluations of the procedure and mean values of cortisol (r = –0.53), growth hormone (r = –0.52), and norepinephrine (r = –0.5) in children treated with a very low dose of N<sub>2</sub>O (10%). <b><i>Conclusions: </i></b>When sedation is insufficient during i.v. access, and blood sampling pain and stress affect hormone values, treatment with N<sub>2</sub>O or midazolam influence the glucose and stress hormone levels differently. These differences need to be accounted for when results are used for diagnosis and clinical decisions.
|
|
| 6. |
- Fernandez-Vojvodich, P, et al.
(författare)
-
Pro-inflammatory cytokines produced by growth plate chondrocytes may act locally to modulate longitudinal bone growth
- 2012
-
Ingår i: Hormone research in paediatrics. - : S. Karger AG. - 1663-2826 .- 1663-2818. ; 77:3, s. 180-187
-
Tidskriftsartikel (refereegranskat)abstract
- <b><i>Introduction:</i></b> Interleukin-1β (IL-1β) and tumour necrosis factor-α (TNF-α), both cytokines upregulated during chronic inflammation, are known to suppress bone growth. So far no role of these cytokines in modulation of normal bone growth has been established. <b><i>Methodology:</i></b> Applying<b> </b>RT-PCR and immunohistochemistry, expression of IL-1β and TNF-α was studied in cultured fetal (E20) rat metatarsal bones. Anakinra (500 µg/ml; IL-1 receptor antagonist) and/or etanercept (500 µg/ml; soluble TNF-α receptor) were used to block cytokine actions. <b><i>Results:</i></b> The local expression of IL-1β and TNF-α was confirmed in the rat metatarsal growth plate. When cultured for 12 days and compared to control, the length of bones exposed to anakinra, etanercept, or anakinra plus etanercept increased by 7.7 ± 2.0 (p < 0.05), 11.7 ± 2.8 (p < 0.01) and 20.3 ± 1.9% (p < 0.001), respectively, while the height of the hypertrophic growth plate zone (collagen X staining) increased by 11.0 ± 6.7, 17.4 ± 7.1 and 43.1 ± 5.0% (p < 0.01), respectively. Moreover, etanercept increased chondrocyte proliferation (BrdU incorporation). <b><i>Conclusion:</i></b> Our findings that IL-1β and TNF-α are produced by growth plate chondrocytes and that their antagonists improve growth of cultured metatarsal bones suggest that these cytokines play a physiological role in the normal regulation of longitudinal bone growth.
|
|
| 7. |
- Savendahl, L, et al.
(författare)
-
Gender influences short-term growth hormone treatment response in children
- 2012
-
Ingår i: Hormone research in paediatrics. - : S. Karger AG. - 1663-2826 .- 1663-2818. ; 77:3, s. 188-194
-
Tidskriftsartikel (refereegranskat)abstract
- <b><i>Background:</i></b> Gender may affect growth hormone (GH) treatment outcome. This study assessed gender-related differences in change from baseline height standard deviation scores (ΔHSDS) after 2 years’ GH treatment. <b><i>Methods:</i></b> Data from two observational databases were analyzed – the NordiNet® International Outcome Study (NordiNet® IOS) and the American Norditropin Studies: Web Enabled Research Program (ANSWER Program®). Of all the evaluated patients (n = 5,880; age 0 to <18 years), 4,471 were diagnosed with GH deficiency (GHD), 422 with multiple pituitary hormone deficiency, and 987 were born small for gestational age (SGA). Data were analyzed by indication, gender and pubertal status (total population/prepubertal). <b><i>Results:</i></b> In the total population, after correcting for dose, mean baseline age and HSDS, ΔHSDS was significantly greater in boys than in girls born SGA (p = 0.0261). In the prepubertal cohort, ΔHSDS was significantly greater for boys versus girls with GHD (p = 0.0004) and SGA (p = 0.0019). No between-gender difference in ΔIGF-I SDS was found. <b><i>Conclusions:</i></b> A significant gender difference was found in the 2-year response to GH treatment in the total population of SGA children as well as in the prepubertal cohorts of SGA and GHD children.
|
|
| 8. |
|
|
| 9. |
|
|
