Talla baja asociado a errores de refracción ocular en escolaresde Muquiyauyo, Perú / Short stature associated with ocular refractive errors in schoolchildren in Muquiyauyo, Peru

Objetivo: Determinar la asociación entre talla baja y erro-res de refracción ocular en escolares de Muquiyauyo. Metodología: El tamaño de la población estuvo constituidapor 250 escolares y el tamaño muestral (n) para el nivel deconfianza 99.99% fue de 215 escolares, el estudio fue analí-tico observacional transversal, y la técnica utilizada para la re-colección de datos fue de observación y encuesta medianteuna ficha con datos de medición antropométrica y refracciónocular (medida de vista con autokeratorefractometro). Resultados: De los 215 niños evaluados 158 presentanerrores de refracción ocular, a quienes se les realizó la medidade vista con autokeratorefractometro; presentando 17 niñosmiopía, 9 hipermetropía, 21 astigmatismo, 32 miopía y astig-matismo y 79 hipermetropía y astigmatismo. Con respecto al análisis bivariado de talla baja y miopía, astigmatismo, hiperme tropía se encontraron que los niños que tienen tallabaja se asociaron significativamente con el astigmatismo p = <0.0000965, la razón de prevalencia =2.33 IC (1.44,3.78); es decir, que los que presentan talla baja tienen dosveces más el riesgo de presentar astigmatismo. Los niños que presentaron talla baja se asocian significati-vamente con refracción ocular P=<0.01 razón de prevalencia6.81 IC (2.57,18.1). Conclusión: Los escolares de Muquiyauyo con talla bajatienen 6 veces más riesgo de presentar alteraciones en la re-fracción ocular.(AU)

Objective: To determine the association between shortstature and ocular refractive errors in schoolchildren inMuquiyauyo. Methodology: The population size consisted of 250 scho-olchildren and the sample size(n) for the 99.99% confidencelevel was 215 schoolchildren. The study was a cross-sectionalobservational analytical study, and the technique used fordata collection was observation and survey using an anthro-pometric measurement and ocular refraction data sheet (eyemeasurement with autokeratorefractometer). Results: Of the 215 children evaluated, 158 had ocular re-fractive errors, and their eyesight was measured with an au-tokeratorefractometer; 17 children had myopia, 9 had hypero-pia, 21 had astigmatism, 32 had myopia and astigmatism and79 had hyperopia and astigmatism. With respect to the biva-riate analysis of short stature and myopia, astigmatism andhyperopia, it was found that children with short stature weresignificantly associated with astigmatism p = <0.0000965,prevalence ratio =2.33 CI (1.44, 3.78); that is, those withshort stature have twice the risk of presenting astigmatism. Children with short stature are significantly associated withocular refraction P=<0.01 prevalence ratio 6.81 CI (2.57,18.1). Conclusion: Muquiyauyo school children with short statureare 6 times more likely to have ocular refractive disorders.(AU)

SOFT syndrome with kohlschutter-Tonz syndrome.

We report a 2.2 year-old-boy, born of consanguineous marriage, referred for short stature, with history of neonatal death and skeletal deformities in his older sibling. Rhizo-mesomelic dwarfism was detected antenatally. Within 24 hours of birth, he developed multiple seizures. Examination revealed severe short stature, dolichocephaly, broad forehead, deep set eyes, low set ears, bulbous nose, small, irregular teeth, pointed chin, and triangular facies. He had rhizomelic shortening, stubby fingers, pes planus, and scanty hair. Neurological evaluation revealed ataxia, hypotonia, and global developmental delay. Skeletal survey radiograph revealed shallow acetabuli, short femurs and humerus, short, broad metacarpals and short cone-shaped phalanges with cupping of phalangeal bases. Clinical exome analysis revealed homozygous mutations involving the POC1A gene and the SLC13A5 gene responsible for SOFT syndrome and Kohlschutter-Tonz syndrome respectively, which were inherited from the parents. Both these syndromes are extremely rare, and their co-occurrence is being reported for the first time.

Assessment of Nutritional Status in the Diagnostic Evaluation of the Child with Growth Failure.

Current clinical guidelines provide information about the diagnostic workup of children with growth failure. This mini-review focuses on the nutritional assessment, which has received relatively little attention in such guidelines. The past medical history, in particular a low birth size and early feeding problems, can provide information that can increase the likelihood of nutritional deficits or several genetic causes. The current medical history should include a dietary history and can thereby reveal a poorly planned or severely restricted diet, which can be associated with nutritional deficiencies. Children on a vegan diet should receive various nutritional supplements, but insufficient compliance has been reported in one-third of cases. While proper use of nutritional supplements in children consuming a vegan diet appears to be associated with normal growth and development, insufficient intake of supplements may impede growth and bone formation. Physical examination and analysis of height and weight over time can help differentiating between endocrine causes, gastrointestinal disorders, psychosocial problems, or underlying genetic conditions that prevent adequate nutritional intake. Laboratory screening should be part of the workup in every child with short stature, and further laboratory tests can be indicated if warranted by the dietary history, especially in children on a poorly planned vegan diet.

Gut microbiota in regulation of childhood bone growth.

Childhood stunting and wasting, or decreased linear and ponderal growth associated with undernutrition, continue to be a major global public health challenge. Although many of the current therapeutic and dietary interventions have significantly reduced childhood mortality caused by undernutrition, there remain great inefficacies in improving childhood stunting. Longitudinal bone growth in children is governed by different genetic, nutritional and other environmental factors acting systemically on the endocrine system and locally at the growth plate. Recent studies have shown that this intricate interplay between nutritional and hormonal regulation of the growth plate could involve the gut microbiota, highlighting the importance of a holistic approach in tackling childhood undernutrition. In this review, I focus on the mechanistic insights provided by these recent advances in gut microbiota research and discuss ongoing development of microbiota-based therapeutics in humans, which could be the missing link in solving undernutrition and childhood stunting.

The Effects of Natural Product-Derived Extracts for Longitudinal Bone Growth: An Overview of In Vivo Experiments.

Approximately 80% of children with short stature are classified as having Idiopathic Short Stature (ISS). While growth hormone (GH) treatment received FDA approval in the United States in 2003, its long-term impact on final height remains debated. Other treatments, like aromatase inhibitors, metformin, and insulin-like growth factor-1 (IGF-1), have been explored, but there is no established standard treatment for ISS. In South Korea and other Asian countries, East Asian Traditional Medicine (EATM) is sometimes employed by parents to potentially enhance their children's height growth, often involving herbal medicines. One such product, Astragalus membranaceus extract mixture HT042, claims to promote height growth in children and has gained approval from the Korean Food and Drug Administration (KFDA). Research suggests that HT042 supplementation can increase height growth in children without skeletal maturation, possibly by elevating serum IGF-1 and IGF-binding protein-3 levels. Preclinical studies also indicate the potential benefits of natural products, including of EATM therapies for ISS. The purpose of this review is to offer an overview of bone growth factors related to ISS and to investigate the potential of natural products, including herbal preparations, as alternative treatments for managing ISS symptoms, based on their known efficacy in in vivo studies.

Causal associations between insulin-like growth factor 1 and vitamin D levels: a two-sample bidirectional Mendelian randomization study.

Background: Insulin-like growth factor 1 (IGF-1) plays a vital role in the attainment and maintenance of bone mass throughout life and is closely related to the stature of children. 25-Hydroxyvitamin D (25-OHD) is an intermediate of vitamin D (Vit D) metabolism and a key indicator of Vit D nutritional status. Multiple studies have revealed that IGF-1 levels undergo a non-significant increase after Vit D supplementation. Here, we analyzed the causal and reverse causal relationships between 25-OHD and IGF-1 levels using Mendelian randomization (MR). Methods: Two-sample MR was used to estimate an unconfounded bidirectional causal relationship between the level of IGF-1 and those of Vit D and 25-OHD. Single nucleotide polymorphisms (SNPs) were filtered from genome-wide association studies (GWAS) after a comprehensive search of the Integrative Epidemiology Unit GWAS database. Several MR methods were employed, including inverse-variance weighted (IVW) method, and a sensitivity analysis was undertaken to detect whether pleiotropy or heterogeneity biased the MR results. Results: Genetically predicted IGF-1 was found to have a causal association with Vit D and serum 25-OHD levels, where Vit D and serum 25-OHD levels increased with increasing IGF-1 concentrations (Vit D: IVW ß:0.021, 95% CI: 0.005-0.036, p = 7.74 × 10-3; 25-OHD: IVW ß: 0.041, 95% CI: 0.026-0.057, p = 2.50 × 10-7). A reverse causal effect was also found, indicating Vit D and serum 25-OHD have a positive causal relationship with IGF-1 (Vit D: IVW ß:0.182, 95% CI: 0.061-0.305, p = 3.25 × 10-3; 25-OHD: IVW ß: 0.057, 95% CI = 0.017-0.096, p = 4.73 × 10-3). The sensitivity analysis showed that horizontal pleiotropy was unlikely to bias the causality in this study (MR-Egger: Vit D intercept p = 5.1 × 10-5, 25-OHD intercept p = 6.4 × 10-4 in forward analysis; Vit D intercept p = 6.6 × 10-4, 25-OHD intercept p = 1.9 × 10-3 in reverse analysis), and a leave-one-out analysis did not identify evidence of bias in the results. Conclusion: The results of the MR analysis provide evidence that IGF-1 has positive causal and reverse causal relationships with Vit D and serum 25-OHD, respectively, in European populations. Our findings also provide guidance for the prevention and treatment of short stature and other related diseases.

Endocrine disorders in Beta-Thalassemia major patients at a Tertiary Care Hospital.

Objectives: To determine the frequency of endocrine disorders in Beta-Thalassemia Major (BTM) patients presenting for Endocrine Evaluation to the Department of Diabetes, Endocrinology and Metabolic Diseases, Hayatabad Medical Complex, Peshawar, Pakistan, a tertiary care hospital. Method: This descriptive study was conducted in the Department of Diabetes, Endocrinology and Metabolic Diseases, Hayatabad Medical Complex, Peshawar from October 2019 to August 2021. All patients with BTM presenting for endocrine evaluation were included in the study. Height and weight were assessed and plotted on the standard charts. For secondary sexual characteristics tanner staging was used. Blood samples for hormonal profile were taken according to standard protocol and sent for endocrine assessment. Results: A Total of 135 patients BTM were enrolled in the study comprising of 70 (51.9%) males and 65 (48.1%) females. Their mean age was 14.8±3.9 years, mean height 138.5±13.01 cm, mean weight 35.9±8.4 kg, mean BMI 18.6±2.8 kg/m2, mean age of transfusion started was 6.7±3.99 months, mean duration of transfusion 13.6±4.03 years and mean duration of chelation therapy received 6.1±4.5 years. Regarding endocrine complications, out of 135 patients assessed, one hundred (74.1%) had height less than 5th centile and fifteen (11.1%) had diabetes mellitus. For thyroid and parathyroid function, 58 and 13 were tested respectively, out of which 16 (27.6%) and 6 (46.2%) had thyroid dysfunction and hypoparathyroidism. Out of 91 patients assessed for pubertal delay, 61 (67.03%) had delayed puberty. Conclusions: High percentage of endocrine complications were found in patients with BTM. Severity and multiplicity of endocrine organs involvement was dependent on duration of the disease and lack of compliance with chelation therapy.

Nutritional Aspects of Juvenile Idiopathic Arthritis: An A to Z for Dietitians.

Juvenile idiopathic arthritis (JIA) represents a chronic, autoimmune, rheumatic musculoskeletal disease with a diagnosis before 16 years of age. Chronic arthritis is a common manifestation in all JIA subtypes. The nature of JIA, in combination to its therapy often results in the development of nutrition-, gastrointestinal (GI)- or metabolic-related issues. The most-common therapy-related nutritional issues involve methotrexate (MTX) and glucocorticosteroids (GCC) adverse events. MTX is a folic acid antagonist, thus supplementation with folic acid in required for improving GI side effects and correcting low serum levels. On the other hand, long-term GCC administration is often associated with hyperglycemia, insulin resistance and growth delay. This relationship is further aggravated when more joints are affected and greater doses of GCC are being administered. Apart from stature, body mass index z-scores are also suboptimal in JIA. Other signs of malnutrition include decreased phase angle and muscle mass, especially among patients with polyarthritis JIA. Evidence also points to the existence of an inverse relationship between disease activity and overweight/obesity. Specific dietary patterns, including the anti-inflammatory diet, might confer improvements in selected JIA outcomes, but the level of available research is yet insufficient to draw safe conclusions. The majority of patients exhibit suboptimal vitamin D status; hence, supplementation is recommended. Collectively, the evidence indicates that, due to the age of onset and the complexity of the disease, along with its pharmacotherapy, children with JIA are prone to the development of several nutritional problems, warranting expert monitoring. Vitamin deficiencies, oral and GI-problems limiting dietary intake, faltering growth, overweight and obesity, physical inactivity, or impaired bone health are among the many nutritional issues in JIA requiring dietitian support.

The Effect of a Nutritional Supplement on Growth and Body Composition in Short and Lean Preadolescent Boys following One Year of Intervention.

INTRODUCTION: Adequate nutrition plays an important role in linear growth throughout childhood, including puberty. However, not all children are willing or able to consume an adequate and balanced diet daily. We aimed to evaluate the 1-year effectiveness and safety of nutritional supplementation on linear growth, weight gain, and changes in body composition in short and lean peripubertal boys. METHODS: A 1-year, 2-phase multicenter interventional study comprising 1-6 months of a double-blinded intervention with nutritional formula or placebo, followed by 6-12 months of an open-label extension with the nutritional formula for all participants. RESULTS: The outcomes of the double-blinded intervention were reported previously. A total of 79/98 (81%) boys, aged ≥10 years, Tanner stages 1-3, completed the open-labeled extension phase. For this phase, a significant dose-response correlation (p < 0.05) was found of the consumption of the formula with Δ height-SDS, Δ weight-SDS, and Δ muscle mass (crude correlations and after adjustment for baseline age and end-of-study Tanner stage). In the extension phase and in the 12-month analysis, participants who were good formula consumers (intake ≥50% of the recommended dose) maintained their height-SDS, while poor consumers had a significant decline in their height-SDS (p = 0.028 and p = 0.009, between group difference in the extension phase and 12-month analysis, respectively). Between-group differences were not observed in the Tanner stage at any point of the study. No serious adverse events were reported. CONCLUSIONS: An intervention in healthy peripubertal boys suggests that 1-year consumption of a multi-nutrient, protein-rich nutritional supplement is efficacious and safe. The induced changes in growth and body composition, although modest, may be clinically significant. The effect of the formula on growth parameters was not mediated by enhancement of the pubertal tempo.

Comparative effectiveness of East Asian traditional medicine for treatment of idiopathic short stature in children: Systematic review and network meta-analysis.

BACKGROUND: Idiopathic short stature (ISS) is a common problem in children and causes many economic and social burdens. In Asian countries, East Asian traditional medicine (EATM) therapies are widely used for children with ISS. In this study, we compared and ranked various EATM therapies for the treatment of pediatric ISS using network meta-analysis. METHODS: Randomized controlled trials that evaluated various EATMs for pediatric ISS were found through searching 14 electronic databases. The primary outcome was growth velocity (GV). The comparative effectiveness of the treatments was ranked based on the surface under the cumulative ranking curve (SUCRA) and the risk of bias was assessed. The quality of evidence was assessed using the Grading of Recommendations, Assessment, Development, and Evaluations approach. RESULTS: Fourteen studies comprising 1,066 participants were included. HM plus GH showed statistically significant superiority over other EATM therapies including acupuncture (weighted mean difference (WMD) 3.20 cm, 95% confidence interval (CI) 0.40 to 5.99) and HM (WMD 3.70 cm, 95% CI 1.41 to 5.99) for improving GV per year, although there was no difference compared with GH alone (WMD 1.18 cm, 95% CI -0.27 to 2.63). SUCRA indicated that HM plus GH was the most effective therapy for increasing GV, followed by GH, HM plus acupressure, and HM. No serious adverse events were reported. CONCLUSION: For the treatment of ISS, HM plus GH might have a large beneficial effect and might be a better option than EATM therapies and GH alone. However, more long-term, high-quality trials are warranted to confirm the findings. PROTOCOL REGISTRATION: PROSPERO (https://www.crd.york.ac.uk/prospero/), CRD42020187160.

Effect of a nutritional supplementation on growth and body composition in short and lean preadolescent boys: A randomised, double-blind, placebo-controlled study.

AIM: To evaluate the effect of nutritional supplementation on height, weight and body composition in short and lean male preadolescents. METHODS: A randomised, double-blinded, placebo-controlled trial of nutritional supplementation of short and lean prepubertal 10-14.5-year-old boys. Primary outcomes included Δheight-SDS and Δweight-SDS. Secondary outcomes included changes in body composition and BMI-SDS. RESULTS: Of 160 boys enrolled, 126 (80%) completed 6 months' intervention. Baseline age, height-SDS, weight-SDS, BMI-SDS, body composition and dietary intake were similar in the formula and placebo groups. 'Good' formula consumers (intake of ≥50% of the recommended dose, n = 30) gained significantly more in weight-SDS, BMI-SDS, fat-free-mass and muscle mass (p < 0.05) than did 'poor' consumers (n = 35) and the placebo group (n = 61). Only in the formula group, positive dose-response correlations were found between consumption of the formula and changes in the outcome parameters examined, including Δheight-SDS (r = 0.301, p = 0.015). Boys aged >11.4 years who were 'good' formula consumers maintained their Δheight-SDS, while Δheight-SDS declined in 'poor' consumers and the placebo group of the same age (p = 0.033). CONCLUSION: Intervention with a multi-nutrient, protein-rich formula was effective in increasing weight-SDS, fat-free-mass, muscle mass and BMI-SDS in short and lean prepubertal male adolescents. Good consumption of the formula prevented Δheight-SDS decline in the older participants.

Psoriasis with short stature improved by adalimumab.

Few cases of pediatric psoriasis with short stature, possibly resulting from chronic systemic inflammation, have been reported. We present the case of a child with short stature occurring after the onset of psoriasis wherein treatment with adalimumab resulted in the improvement of not only the psoriasis but also the child's short stature. Pediatric psoriasis associated with short stature may benefit from the early induction of biologic therapy.

The effect of vitamin D supplementation and nutritional intake on skeletal maturity and bone health in socio-economically deprived children.

PURPOSE: 1. To determine the effect of vitamin D supplementation on bone age (BA), a marker of skeletal maturity, and Bone Health Index (BHI), a surrogate marker of bone density. 2. To characterise the differences in nutritional intake and anthropometry between children with advanced vs. delayed BA. METHODS: The current study is a post hoc analysis of radiographs obtained as part of a randomised controlled trial. In this double-blind, placebo-controlled trial, deprived Afghan children (n = 3046) aged 1-11 months were randomised to receive six doses of oral placebo or vitamin D3 (100,000 IU) every 3 months for 18 months. Dietary intake was assessed through semi-quantitative food frequency questionnaires at two time points. Anthropometric measurements were undertaken at baseline and 18 months. Serum 25OHD was measured at five time points on a random subset of 632 children. Knee and wrist radiographs were obtained from a random subset (n = 641), of which 565 wrist radiographs were digitised for post-hoc analysis of BA and BHI using BoneXpert version 3.1. RESULTS: Nearly 93% (522, male = 291) of the images were analysable. The placebo (n = 258) and vitamin D (n = 264) groups were comparable at baseline. The mean (± SD) age of the cohort was 2 (± 0.3) years. At study completion, there was no difference in mean 25-hydroxy vitamin D concentrations [47 (95% CI 41, 56) vs. 55 (95% CI 45, 57) nmol/L, p = 0.2], mean (± SD) BA SDS [- 1.04 (1.36) vs. - 1.14 (1.26) years, p = 0.3] or mean (± SD) BHI SDS [- 0.30 (0.86) vs. - 0.31 (0.80), p = 0.8] between the placebo and vitamin D groups, respectively. Children with advanced skeletal maturity (BA SDS ≥ 0) when compared to children with delayed skeletal maturity (BA SDS < 0), had consumed more calories [mean (± SD) calories 805 (± 346) vs 723 (± 327) kcal/day, respectively, p < 0.05], were significantly less stunted (height SDS - 1.43 vs. - 2.32, p < 0.001) and underweight (weight SDS - 0.82 vs. - 1.45, p < 0.001), with greater growth velocity (11.57 vs 10.47 cm/ year, p < 0.05). CONCLUSION: Deprived children have significant delay in skeletal maturation but no substantial impairment in bone health as assessed by BHI. BA delay was influenced by total calorie intake, but not bolus vitamin D supplementation.

Malnutrition in children with ichthyosis: Recommendations for monitoring from a multidisciplinary clinic experience.

BACKGROUND: Short stature has been reported in congenital ichthyoses (CI), but few data exist on patients' nutritional status. OBJECTIVE: To describe the nutritional status at the first evaluation of children and young adults with CI. METHODS: Prospective observational study of patients assessed at a multidisciplinary clinic. Clinical variables and ichthyosis severity were collected. Anthropometric assessment was made by measuring weight and height, and nutritional status was classified based on the World Health Organization definitions for malnutrition. Analytical assessment included markers of nutritional status, fat-soluble vitamins, and micronutrients. RESULTS: We included 50 patients with a median age of 5 years (IQR, 1.6-10.3). Undernutrition was found in 32% of patients, and 75% of the undernourished children presented growth impairment. Younger children and those with severe ichthyoses were the most affected. Micronutrient deficiencies were found in 60% of patients. Deficiencies of selenium (34%), iron (28%), vitamin D (22%), and zinc (4%) were the most frequent findings. LIMITATIONS: Our small sample includes a heterogeneous group of ichthyoses. CONCLUSION: Children with CI appear to be at risk of undernutrition, especially at younger ages. Nutritional deficiencies are common and should be monitored. Growth failure in children with ichthyosis could be caused by undernutrition and aggravated by nutritional deficiencies.

A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency.

Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare inherited autosomal disorder with characteristic skeletal deformities striking on radiological imaging, which includes metaphyseal cupping and fraying. Physical examination reveals short stature in early childhood, frontoparietal bossing, rachitic rosary, genu varum and valgum, and coxa vara usually. We believe that the constellation of clinical and radiographic findings of MDSC might look similar to vitamin D resistant rickets; hence, genetic analysis is needed to overcome diagnostic challenges faced by physicians to avoid unnecessary vitamin D supplementation in individuals. We report the first case of MDSC with a coexisting factor VII deficiency in an eight-year-old boy.

Efficacy of zinc supplementation on growth and IGF-1 in prepubertal children with idiopathic short statures and low serum zinc levels.

We investigated the effect of zinc supplementation on growth and serum IGF-1 levels in 10 prepubertal Japanese children with idiopathic short statures, who had serum zinc levels of less than 80 µg/dL. Subjects were started on oral zinc supplementation at a dose of 25 mg once daily. In three children, the doses were increased by 50 mg once daily during the study period of 12 mo. The serum zinc levels rose in all subjects and reached a normal range (beyond 80 µg/dL). However, it was found that zinc supplementation did not promote growth. Although the mean IGF-1 standard deviations significantly increased, the majority did not reach the normal range. There were no significant adverse events other than mild gastrointestinal symptoms in 4 out of 10 subjects during the supplementation period. The most likely reason why growth was not promoted is that the zinc supplementation dosage was not enough to stimulate IGF-1 generation and subsequent growth velocity.

Screening and management of thyroid dysfunction in preterm infants.

Preterm infants can suffer various thyroid dysfunctions associated with developmental immaturity of the hypothalamic-pituitary-thyroid axis, postnatal illness, medications, or iodine supply. The incidence of thyroid dysfunction among preterm infants is higher than that among term infants and has been increasing with improvement in the survival of preterm infants. Hypothyroxinemia is frequently observed during the first week of life in extreme preterm neonates, and the incidence of delayed thyrotropin elevation is high at the age of 2-6 weeks. Although the necessity of routine rescreening remains controversial, recent guidelines on screening for congenital hypothyroidism have recommended rescreening of all preterm neonates. Thyroid hormone replacement is recommended for persistent thyrotropin elevation with or without hypothyroxinemia. Hypothyroxinemia without thyrotropin elevation does not require treatment, and some potential risks of levothyroxine supplementation have been reported. Although most thyroid dysfunctions are transient, careful follow-up after discontinuation of levothyroxine is considered so as to avoid missing persistent hypothyroidism.

Metabolomic analysis reveals metabolic characteristics of children with short stature caused by growth hormone deficiency.

The diagnosis of short stature (SS) is of widespread importance for later treatment. In the present paper, a metabolomic method was used to analyze the metabolic characteristics of SS children caused by endocrine metabolic diseases in order to understand the underlying biochemical mechanism and provide a potential intervention strategy for SS. According to the clinical diagnosis and family investigation, all patients with SS were confirmed to be due to the endocrine disorders, especially GH deficiency (GHD). A nuclear magnetic resonance (NMR)-based metabolomic analysis of serum was used to identify the metabolic changes in 45 SS children from the 35 healthy controls (HCs). The disturbed metabolic network related to SS was correspondingly derived from the differential metabolites. The SS children demonstrated higher serum levels of citrate, phenylalanine, creatinine, and tyrosine and lower serum levels of glucose, serine, betaine, inositol, lysine, glycerol, and glutamine compared with the HCs. The results demonstrated that the disturbed glucose metabolism and metabolism and biosynthesis of amino acids are typical metabolic features of SS, and the lower levels of lysine and glutamine are the metabolic characterization of the affected growth axes and stress state of SS, respectively. The significant changes of those serum metabolites are able to be regarded as potential biomarkers for the diagnosis of SS. Accordingly, supplemental betaine in dietary pattern, the improvement of glycometabolism, and endogenous replenishment of lysine and glutamine allow the possible treatment strategy for SS.

Screening and management of thyroid dysfunction in preterm infants

Preterm infants can suffer various thyroid dysfunctions associated with developmental immaturity of the hypothalamic-pituitary-thyroid axis, postnatal illness, medications, or iodine supply. The incidence of thyroid dysfunction among preterm infants is higher than that among term infants and has been increasing with improvement in the survival of preterm infants. Hypothyroxinemia is frequently observed during the first week of life in extreme preterm neonates, and the incidence of delayed thyrotropin elevation is high at the age of 2–6 weeks. Although the necessity of routine rescreening remains controversial, recent guidelines on screening for congenital hypothyroidism have recommended rescreening of all preterm neonates. Thyroid hormone replacement is recommended for persistent thyrotropin elevation with or without hypothyroxinemia. Hypothyroxinemia without thyrotropin elevation does not require treatment, and some potential risks of levothyroxine supplementation have been reported. Although most thyroid dysfunctions are transient, careful follow-up after discontinuation of levothyroxine is considered so as to avoid missing persistent hypothyroidism.

Clinical analysis of the recombinant human growth hormone combined with letrozole in the treatment of short pubertal boys / 中国实用儿科杂志

OBJECTIVE: To explore the therapeutic effects and adverse reactions of a combination treatment of recombinant human growth hormone(rh GH)with letrozole,compared with rh GH alone,in short pubertal boys. METHODS: Fifty-five short pubertal boys were divided into two groups,one group was treated with rh GH(rh GH group,n=24),and the other group was treated with the combination of rh GH and letrozole(combination group,n=31). All boys had completed the over one year of treatment. The advancement of bone age(BA),height standard deviation score by bone age(Ht SDSBA),body mass index standard deviation(BMI SDS),glucose and lipid metabolism,and the changes of the external genitalia and adverse reactions were evaluated. RESULTS: The age of two groups was(12.72±0.99)years and(12.90±1.36)years,respectively(P>0.05).The treatment periods were(1.71±0.55)years and(1.58±0.46)years,respectively(P>0.05).Their BA increased(0.96±0.27)years/year and(0.50±0.20)years/year during treatment,respectively(P0.05)respectively during treatment. There were no statistically significant difference in BMI SDS,glucose or lipid metabolism between the two groups.Three boys in combination group suffered from fractures during the treatment. Ultrasound bone density scan showed serious shortage of bone mineral density;after supplemental calcium and calcitriol,bone density increased within 3 to 6 months,and there was no recurrence of fracture. CONCLUSION: Combination of rh GH and letrozole in short pubertal boys could inhibit BA progression and ameliorate HtSDSBA,without affecting the normal sexual development,but bone density may be affected,and long-term follow-up is needed.