BACKGROUND: Glycogen storage disease type 0a (GSD0a) is a rare autosomal recessive disorder caused by glycogen synthase deficiency. Short stature is a characteristic feature in 29% of GSD0a patients, but isolated short stature as the only presenting symptom is exceedingly rare, with only 2 cases reported worldwide.
METHODS: A 4-year-old girl presented with persistent growth retardation despite previous treatment for renal tubular acidosis.
METHODS: Based on clinical presentation and whole exome sequencing results, the patient was diagnosed with GSD0a.
METHODS: Uncooked cornstarch therapy was initiated at 2 g/kg every 6 hours.
RESULTS: After 3 years of treatment, the patient\'s height SDS improved from -2.24 to -1.06, with enhanced glycemic control and no complications.
CONCLUSIONS: This case emphasizes considering GSD0a in unexplained short stature and the value of continuous glucose monitoring. Early diagnosis and treatment can optimize growth in GSD0a patients.

BACKGROUND: Intrahepatic cholestasis of pregnancy (ICP) is associated with an increased risk of adverse fetal outcomes, yet its influence on offspring growth remains unclear. Our study dynamically tracks growth rates in children from ICP and healthy mothers and investigates the link between maternal liver function and developmental abnormalities in offspring.
METHODS: Our case‒control study involved 97 women with ICP and 152 with uncomplicated pregnancies nested in a cohort of their offspring, including 50 from the ICP group and 87 from the uncomplicated pregnancy group. We collected pediatric growth and development data, with a maximum follow-up duration of 36 months. Stratified analyses of children\'s height, weight, and head circumference were conducted, and Spearman\'s rank correlation was applied to examine the relationships between maternal serological markers and pediatric growth metrics.
RESULTS: Maternal liver and renal functions, along with serum lipid profiles, significantly differed between the ICP and normal groups. In the ICP group, the offspring showed elevated alanine aminotransferase (ALT), direct bilirubin (DBIT), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and apolipoprotein B (APOB) levels. Notably, the length-for-age z score (LAZ), weight-for-age z score (WAZ), and head circumference-for-age z score (HCZ) were lower in ICP offspring compared with those from normal pregnancies within the 1- to 12-month age range (P < 0.05). However, no significant differences in LAZ, weight-for-length z score (WLZ), BMI-for-age z score (BAZ), or HCZ were observed between groups in the 13- to 36-month age range. Maternal maximum lactate dehydrogenase (LDH) and total bile acids (TBA) levels during pregnancy were inversely correlated with LAZ and WAZ in the first year. Furthermore, offspring of mothers with ICP exhibited a greater incidence of stunting (24% vs. 6.9%, P = 0.004) and abnormal HCZ (14% vs. 3.7%, P = 0.034).
CONCLUSIONS: Growth disparities in offspring of ICP-affected pregnancies were most significant within the 1- to 12-month age range. During this period, maximum maternal LDH and TBA levels were negatively correlated with LAZ and WAZ values of offspring. The observation of similar growth rates between ICP and control group offspring from 13 to 36 months suggested catch-up growth in the ICP group.

患儿 男，8岁4月龄，因“发现身高落后同龄儿5年余”就诊于河南中医药大学第一附属医院儿科医院，主要表现为言语延迟、身材矮小、行走姿势异常、脊柱侧弯和运动发育迟缓，生长激素激发试验示生长激素峰值>10 μg/L，影像学检查示脑垂体顶部膨隆，基因检测结果显示患儿有新发的FOXP4基因杂合性致病变异NM_001012426：c.1618G>A，P.E540K，与已报道的4个FOXP4错义变异均位于叉头DNA结合域上。FOXP4基因杂合变异与以言语延迟和生长发育障碍等临床表型有关。.

The ketogenic diet (KD) can have a negative impact on the linear growth and body composition of children. The aims of this study were to review two centers\' experience with children who developed height deceleration on the KD and determine if the height deceleration was secondary to growth hormone deficiency (GHD), and if growth hormone therapy (GHT) would be effective and safe (not altering ketosis or seizure frequency). Retrospective chart reviews were performed on patients with KD referred to Endocrinology between 2013 and 2018. Seventeen children were identified. Data reviewed included: demographics, growth velocity, KD ratio, protein/calorie intake, lab results, GH dosage, Tanner stage, and seizure frequency, and endocrine recommendations. Descriptive statistics were performed. Of the 17 children referred to the Endocrine Division, seven children were growth hormone deficient and began GHT. Data were provided for six patients (2 males, 4 females; age 2-7 years at the start of KD) on the KD for >6 years and on GHT for >4 years. Growth for all patients stabilized or increased. IGF-1 z-scores normalized. GHT did not affect seizure frequency or ketosis. GHT in those with GHD can be an appropriate option allowing better growth while still maintaining ketogenic therapy and seizure control. PLAIN LANGUAGE SUMMARY: The KD can be an effective treatment for difficult-to-control epilepsy and some disorders of carbohydrate metabolism. The KD can adversely affect the linear growth (height) of children. This case series reviewed six patients who had slow linear growth. It was found that all six children had growth hormone deficiency, grew better with growth hormone treatments, and that their seizures and ketone levels were not affected.

In the past two decades, there has been a growing recognition of the need to establish indigenous standards or reference growth charts, particularly following the WHO multicenter growth study in 2006. The availability of accurate and reliable growth charts is crucial for monitoring child health. The choice of an appropriate model for constructing growth charts depends on various data characteristics, including the distribution\'s tails and peak. While Pakistan has reported some reference growth charts, there is a notable absence of indigenous charts for children under two years of age, especially for infants aged 0-6 months who are exclusively breastfed. Additionally, acquiring data poses a significant challenge, particularly for low-income countries, as it demands substantial resources such as finances, time, and expertise. The Multiple Indicator Cluster Survey (MICS) constitutes a large-scale national survey conducted periodically in low-income countries under the auspices of UNICEF. In this study, we propose methods for generating selection variables utilizing the \"Novel Case Selection Method,\" as previously published. Further our approach enables to select and fit appropriate model to the MICS data, selected, and to develop the standard growth charts.
Out of the 11,478 children under 6 months of age included in MICS-6 (Pakistan), 3,655 children (1,831 males and 1,824 females) met the specified criteria and were selected using the \"Novel Case Selection Method\". The sample was distributed across provinces as follows: 841 (23.0%) from KPK, 1,464 (40.1%) from Punjab, 819 (22.4%) from Sindh, and 531 (14.5%) from Balochistan. This sample encompassed both rural (76.4%) and urban (23.6%) populations. Following data cleaning and outlier removal, a total of 3,540 records for weight (1,768 males and 1,772 females) and 3,515 records for height (1,759 males and 1,756 females) were ultimately available for the development of standard charts. The Bayesian Information Criterion (BIC) was employed to determine the optimal degrees of freedom for L, M, and S using RefCurv_0.4.2. Three families within the gamlss class-namely, Box Cox Cole and Green (BCCG), Box Cox T (BCT), and Box Cox Power Exponential (BCPE)-were applied, each with three smoothing techniques: penalized splines (ps), cubic splines (cs), and polynomial splines (poly). The best-fitted model was selected from these nine combinations based on the Akaike Information Criteria.
The Novel Case Selection Method yielded 3655 cases as per criteria. After cleaning the data, this method lead to selection of 3540 children for \"weight for age\" (W/A) and 3515 children for \"height for age\" (H/A). The \"BCPE\" family and \"ps\" as smoothing method proved to be best on AIC for all four curves, i.e. the W/A male, W/A female, H/A male, and H/A female. The optimum selected degrees of freedom for the curve \"W/A\", for both genders were (M = 1, L = 0, S = 0). The optimum degrees of freedom for H/A male were again (M = 1, L = 0, S = 0), but for females the selected degrees of freedom were (M = 1, L = 1, S = 1). The indigenous fitted standard curves for Pakistan were on lower trajectory in comparison to WHO standards.
This study uses the Novel Case Selection Method with introduced algorithms to construct tailored growth charts for lower and middle-income countries. Leveraging extensive MICS data, the methodology ensures representative national samples. The resulting charts hold practical value and await validation from established data sources, offering valuable tools for policy makers and clinicians in diverse global contexts.

BACKGROUND: The pathogenic mutation of short stature homeobox (SHOX) gene is one of the main genetic causes of short stature in children, with an incidence rate of 1/1000~1/2000 and the main clinical manifestations are short stature and (or) limb skeletal abnormalities. SHOX gene mutations are mostly large deletions of regulatory sequence genes, while exon mutations are relatively rare. The pathogenic rate of mutations occurring in exon 5 is only 1/50 000~1/100 000. This study reviewed the clinical data of a child with SHOX gene mutation in exon 5, and analyzed the clinical phenotype, pathogenesis, diagnosis, treatment and prognosis of SHOX gene mutation in combination with relevant literature at home and abroad.
METHODS: The patient was an 8-year-old girl with a height of 105.2 cm (-4.31 standard deviations). Her sitting height/height ratio was 56.8% (>55.5%), and she exhibited high-arched palate, irregular dentition, micrognathia, short fingers, and a normal growth hormone stimulation test. Whole-exome sequencing was performed, and Sanger sequencing was used for site validation. The sequencing results revealed a heterozygous mutation of c.577G > A in exon 5 of the SHOX gene, inherited from the father. The clinical symptoms of the proband were consistent with the phenotype of short stature idiopathic familial associated with SHOX gene mutations. The father, grandfather, uncle, and sister of the proband all had the c.577G > A heterozygous mutation. Therefore, the clinical diagnosis was childhood short stature caused by SHOX gene defects. The SHOX: c.577G > A mutation is likely to be the genetic etiology of familial idiopathic short stature in this family, and this novel mutation enriches the mutation spectrum of the SHOX gene.
CONCLUSIONS: This is the first case report of familial idiopathic dwarfism caused by mutation at the c.577G > A locus of exon 5 of SHOX gene in the world. This novel mutation enriches the mutation spectrum of the SHOX gene. It is important to emphasize genetic testing, including the SHOX gene, in patients with familial idiopathic short stature and to provide timely growth hormone therapy to individuals with short stature caused by SHOX gene mutations in order to improve their adult height.

(1) To examine the muscle thickness of various muscle groups of the body to estimate the absolute and relative skeletal muscle mass (SM) in competitive physique-based athletes (Bodybuilding, 212 Bodybuilding, Bikini, and Physique divisions) and (2) to compare values across various divisions of competition and to resistance trained and non-resistance trained individuals.
Eight competitive physique-based athletes (2 M and 6 F), two recreationally resistance trained (1 M and 1 F) and two non-resistance trained (1 M and 1 F) participants had muscle thickness measured by ultrasound at nine sites on the anterior and posterior aspects of the body. SM was estimated from an ultrasound-derived prediction equation and SM index was used to adjust for the influence of standing height (i.e., divided by height squared).
SM values ranged from 19.6 to 60.4 kg in the eight competitive physique-based athletes and 16.1 to 32.6 kg in the four recreationally resistance trained and non-resistance trained participants. SM index ranged from 7.2 to 17.9 kg/m2 in the eight competitive physique-based athletes and 5.8 to 9.3 kg/m2 in the four recreationally resistance trained and non-resistance trained participants.
Overall, varying magnitudes of SM and SM index were present across competitors and their respective divisions of bodybuilding. The Men\'s Open Bodybuilder in the present study had greater values of total SM and SM index compared to previously published values in the literature. Our data provides insight into the extent of SM present in this population and further extends the discussion regarding SM accumulation in humans.

The WHO tablet pole was developed in 2001 to facilitate the distribution of praziquantel in large-scale treatment campaigns for the control of schistosomiasis. Although a number of field studies have confirmed the accuracy of the tool in normal individuals, some studies have demonstrated that overweight and obese individuals are underdosed. This article proposes an adjustment in the number of praziquantel tablets for treatment of individuals who are overweight or obese according to their body mass index. We demonstrate that by adding an extra tablet of praziquantel to that indicated by the WHO tablet pole, the tool provides the appropriate number of tablets for treatment of overweight and obese individuals. We also propose a pictogram be included in the instructions for use of the WHO tablet pole.

A 72-year-old man, who was extremely short-statured, underwent robot-assisted laparoscopic prostatectomy (RARP) for treatment of localized prostate cancer (cT1cNOMO). We report a case of congenital vertebral tip dysplasia with type II collagen dysplasia in a patient who underwent robot-assisted radical prostatectomy. Congenital vertebral tip dysplasia is characterized by short stature, and in this case, the height was 130 cm, which was equivalent to that of an 8-year-old child. The pelvic floor is narrow in short-statured individuals; therefore, the operative time tends to be longer than that required for routine surgery. However, using modifications in port positions and other adjustments, we performed RARP, and our perioperative results were similar to those obtained with routine RARPs.

Integrative traditional Korean medicine (TKM) treatment including herbal medicine and acupuncture has been used frequently by parents in South Korea for the treatment of children with idiopathic short stature (ISS). We aimed to report the TKM treatments currently being used for children with ISS and explore their therapeutic effects. The medical records of children who met the criteria for ISS and who had been treated with TKM for the management of ISS were retrospectively reviewed. In total, 116 patients (mean [standard deviation] age, 8.07 [3.08] years; 52.6% girls) enrolled in the study. Their mean height percentile was 1.45 and body mass index was 16.19 kg/m2. During the study period of 5 years, participants visited the outpatient clinic an average of 2.93 times; the mean number of days to the next visit was 101 days. All patients received herbal medicine treatment, and the formulation was mainly decoction type. Additional treatments including ear acupuncture and moxibustion were also used. After treatment with TKM, the height percentile and standard deviation scores increased in both girls and boys (P < .001 and P < .01, respectively). Additionally, the predicted adult height, estimated based on bone age, increased in girls (P < .05). This study provided preliminary data for future research in TKM use in children with ISS.