Vitamin D status in non-pregnant women of reproductive age: a study in Southern Thailand.

Vitamin D inadequacy is a global problem in all age groups. Although there are various studies of vitamin D status in pregnant women in Southeast Asia, to date there are few studies from Southeast Asia examining vitamin D status in non-pregnant women of reproductive age. To examine the prevalence of vitamin D insufficiency (VDI) in healthy non-pregnant women of reproductive age in Southern Thailand, 120 healthy non-pregnant women aged 18-42 years were enrolled. Demographic and lifestyle data relevant to vitamin D assessment (sunlight exposure, nutritional intake, type of dress, sunscreen use) and biochemical studies (serum 25-hydroxyvitamin D or 25OHD, parathyroid hormone, calcium, phosphate) were obtained. VDI was classified as serum 25OHD < 20 ng/mL. The average serum 25OHD level was 23.1 ± 6.0 ng/mL. The overall prevalence of VDI was 34.1%. The average dietary intake of calcium, phosphorus and vitamin D and the average duration of sunlight exposure per week were not significantly different between the VDI women and the vitamin D sufficient (VDS) women. Logistic regression analysis found that the significant risk factors for VDI were greater body mass index and higher family income (p-values 0.01 and 0.02, respectively). The prevalence of VDI in non-pregnant women was high at 34%. As the dietary sources of vitamin D are limited and cutaneous vitamin D synthesis is limited by avoidance of sunlight exposure, vitamin D fortification in common daily foods would be an alternative option to reach the recommended vitamin D intake generally of at least 800 IU/day.

Incidence and risk factors of transient hypothyroxinemia of prematurity: a prospective cohort study.

BACKGROUND: Transient hypothyroxinemia of prematurity (THOP) is characterized by low thyroxine (T4) levels with normal thyroid-stimulating hormone (TSH) levels. This study aimed to determine the incidence and factors associated with THOP. METHODS: This prospective cohort study included neonates who were born before 37 weeks of gestation in the neonatal intensive care unit (NICU) between April 2017 and December 2020. Serum TSH and free thyroxine (FT4) levels were routinely screened at 3-5 days and 2, 4, and 6-8 weeks postnatally. The criteria for diagnosis of THOP were a TSH level < 7 mU/L with a FT4 level < 0.8 ng/dL at any screening timepoint. RESULTS: The incidence of THOP in infants born before 28, 34, and 37 weeks of gestation was 39.5 (17/43), 8.4% (29/343), and 4.8% (35/722), respectively. A multivariate analysis revealed that a gestational age of < 28 weeks (adjusted odds ratio [aOR]: 5.35, 95% confidence interval [CI]: 1.89-15.13, p=0.002); 5-min Apgar score of ≤3 (aOR: 5.72, 95% CI: 2.2-14.89, p < 0.001); and treatment with aminophylline (aOR: 2.95, 95% CI: 1.08-8.11, p=0.037), dobutamine (aOR: 4.12, 95% CI: 1.55-10.98, p=0.004), or morphine (aOR: 4.91, 95% CI: 1.29-18.74, p=0.011) were associated with an increased risk of THOP. The TSH and FT4 levels in infants with THOP returned to normal ranges by 2 weeks of age. CONCLUSIONS: THOP is frequently found in preterm infants. An extremely low gestational age, a low Apgar score, and the use of certain medications in the NICU are risk factors for the development of THOP. Therefore, a thyroid screening program should be implemented for evaluating congenital hypothyroidism (CH) and THOP in preterm neonates in all settings.

Association between anaemia and vitamin D insufficiency among 6- to 12-month-old infants: implications for clinical practice.

BACKGROUND: Anaemia and vitamin D insufficiency (VDI) are among the most common nutritional problems. Anaemia screening is routinely performed; however, screening for VDI is not usually recommended. OBJECTIVES: To study the association between anaemia and VDI and identify the risk factors for VDI. METHODS: We conducted a cross-sectional study of 120 infants aged 6-12 months attending a well-child clinic at Songklanagarind Hospital between December 2020 and November 2021. Sociodemographic data and 24-h food records were also collected. Blood samples were obtained for complete blood count and 25-hydroxyvitamin D [25(OH)D] levels. Logistic regression analysis was used to determine risk factors for VDI. RESULTS: The mean 25(OH)D level was 22.2 ± 8.9 ng/mL in anaemic infants and 27.2 ± 9.6 ng/mL in non-anaemic infants (P value 0.01). The median (IQR) Hb level was 11.1 g/dL (10.3, 11.4) in the VDI group and 11.4 g/dL (11, 12.1) in the non-VDI group (P value 0.002). The proportion of breastfed infants was higher in infants with anaemia (80%) (P < 0.001) and VDI (85.3%) (P < 0.001). Sunlight exposure <15 min/day (odds ratio [OR] 3.84; 95% confidence interval [CI]: 1.23-12.00; P = 0.020) was a risk factor, and vitamin D intake (OR 0.37; 95% CI: 0.20-0.74; P = 0.004) was a protective factor for VDI. CONCLUSION: Infants with anaemia, short duration of sunlight exposure, breastfeeding, low vitamin D intake, and low iron intake were more likely to be vitamin D insufficient. However, after adjustment in the multivariate analyses, only sunlight exposure and vitamin D intake were significantly associated with vitamin D insufficiency.

Anaemia and vitamin D insufficiency (VDI) are the 2 most common global nutrition-related problems. Recently, data have been reported on the association between anaemia and VDI; however, no data exist for infants in Thailand. We assessed the vitamin D levels in infants attending a well-child clinic and investigated possible correlations with anaemia. We found that infants with anaemia, short duration of sunlight exposure, breastfeeding, low vitamin D intake, and low iron intake were more likely to be vitamin D insufficient. However, anaemia was not shown to be an independent risk factor for VDI. Risk factor and protective factor for VDI were short duration of sunlight exposure and adequate vitamin D intake, respectively. Vitamin D supplementation to infants has been recommended in many countries, yet, it has not been implemented in Thailand or other tropical countries. We suggest that VDI should be of concern in infants with anaemia or breastfeeding, particularly among those with inadequate sunlight exposure and low vitamin D intake. Implementing vitamin D supplementation should be considered for future practice.

Vitamin D Deficiency in Childhood Cancer Survivors: Results from Southern Thailand.

There is limited information on vitamin D deficiency among childhood cancer survivors (CSS), especially in tropical countries. The aims of this study are to determine the prevalence and risk factors for vitamin D deficiency in CCSs. This study was conducted at the long-term follow-up clinic for CCSs at Prince of Songkla University, Songkhla, Thailand. All CCSs who were followed up between January 2021 and March 2022 were enrolled. Demographic data, dietary dairy intake, average weekly duration of outdoor activities, total 25-hydroxyvitamin D [25(OH)D] levels, parathyroid hormone levels, and blood chemistry were collected. A total of 206 CCSs with a mean age at follow-up of 10.8 ± 4.7 years were included. The prevalence of vitamin D deficiency was 35.9%. Female gender (odds ratio (OR): 2.11, 95% CI: 1.08-4.13), obesity (OR: 2.01, 95% CI: 1.00-4.04), lack of outdoor activities (OR: 4.14, 95% CI: 2.08-8.21), and lower dietary dairy intake (OR: 0.59, 95% CI: 0.44-0.80) were independent risk factors for vitamin D deficiency. Vitamin D deficiency was common in CCSs and associated with female gender, obesity, lack of outdoor activities, and lower dietary dairy intake. Regular 25(OH)D screening should be established in long-term care to identify those who require vitamin D supplements.

Body-Fat-Percentile Curves for Thai Children and Adolescents.

This study aimed to generate sex-specific percentile curves for the percentage of body fat (PBF) in Thai children using a bioelectrical impedance analysis (BIA). The secondary objective of this study was to determine the association between body fat and other anthropometric measurements. A cross-sectional study was conducted on 3455 Thai school children aged 6-18 years. The body-fat contents were measured using BIA. Smoothed percentile curves of PBF were derived using a scatter plot with a smooth curve fitted by the Loess method. The correlations between the body fat and the anthropometric measurements were assessed using the Spearman's rank correlation. The 50th and lower body-fat-percentile curves of the boys slowly increased until age 12, after which they slightly decreased until age 15 and then slightly increased until age 18. In the higher boys' percentiles, the body fat sharply increased until age 11 and then decreased until age 18. In the girls, the PBF percentiles increased steadily from 6 to 18 years. The body-mass index was strongly correlated with PBF and fat mass in both sexes. The waist-to-height ratios showed strong correlations with PBF and fat mass in the boys but were moderate in the girls. The use of PBF percentile curves can be an additional metric for the evaluation of obesity in Thai children.

Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature.

Chimerism is a very rare genetic finding in human. Most reported cases have a chi 46,XX/46,XY karyotype. Only three non-twin cases carrying both trisomy 21 and a normal karyotype have been reported, including two cases with a chi 47,XY,+21/46,XX karyotype and a case with a chi 47,XX,+21/46,XY karyotype. Herein we describe an additional case with a chi 47,XY,+21/46,XX karyotype. For the case, a physical examination at the age of 1 year revealed ambiguous genitalia with no features of Down syndrome or other malformations. Growth and developmental milestones were within normal ranges. We performed short tandem repeat (STR) and single nucleotide polymorphism (SNP) microarray analyses to attempt to identify the mechanism underlying the chimerism in this patient and the origin of the extra chromosome 21. Cytogenetic analyses of the patient's peripheral blood revealed approximately 17% of a 47,XY,+21 lineage by G-banding karyotype analysis, 13%-17% by FISH analyses of uncultured peripheral blood, and 10%-15% by SNP microarray analysis. Four years later, the percentage of trisomy 21 cells had decreased to approximately 6%. SNP microarray and STR analyses revealed a single maternal and double paternal genetic contribution to the patient for the majority of the markers, including the chromosome 21 markers. The extra chromosome 21 was paternally derived and meiosis I nondisjunction likely occurred during spermatogenesis. The mechanisms underlying chimera in our case was likely fertilization two spermatozoa, one with an ovum and the other with the second polar body.

Prevalence and risk factors for vitamin D insufficiency in 6-12-month-old infants: a cross-sectional study in Southern Thailand.

BACKGROUND: Vitamin D is an essential micronutrient for bone mineralization and bone growth in children. There have been few studies to date of vitamin D status in infants aged 6-12 months in Southeast Asian countries. AIM: To examine the prevalence of vitamin D insufficiency (VDI, including vitamin D deficiency) in healthy infants and the risk factors for VDI in southern Thailand. METHODS: A cross-sectional study was carried out in 120 healthy infants aged 6-12 months and their mothers. Blood samples were obtained for measurement of serum calcium, phosphate, alkaline phosphatase, albumin, parathyroid hormone and 25-hydroxyvitamin D (25OHD) levels. The mothers were interviewed for their infants feeding intake, sunlight exposure, type of dress, and sunscreen use. Chi-square and t-test were used to compare between groups for categorical and continuous variables, respectively. Pearson correlation was used to identify the relationship between serum levels of 25OHD of the infants and other biochemical variables of the infants and serum levels of maternal 25OHD. Logistic regression analysis was used to identify the factors associated with vitamin D status. RESULTS: The prevalence of VDI in our study infants was high at 28.3%, all of whom were mainly breastfed infants. Subgroup analysis of the mainly breastfed infants found that the risk factors for VDI were maternal VDI and a short duration of sunlight exposure. The serum 25OHD levels of the mainly breastfed infants were significantly positively correlated with the maternal serum 25OHD levels (r = 0.49, p-value < 0.01) and with sunlight exposure duration (r = 0.40, p-value < 0.01). CONCLUSIONS: The prevalence of VDI was high in 6-12-month-old infants, particularly those who were mainly breastfed from VDI mothers, and who had short durations of sunlight exposure. As breast milk contains adequate amounts of most important vitamins and growth factors, breastfeeding is still encouraged for infants with 400 IU vitamin D daily supplementation to prevent VDI.

Dietary diversity and micronutrient adequacy among women of reproductive age: a cross-sectional study in Southern Thailand.

INTRODUCTION: Adequate nutritional intake of both macronutrients and micronutrients is essential for maintaining good health throughout life, particularly for women of reproductive age (WRA). The Minimum Dietary Diversity for WRA (MDD-W), or the sum of dietary diversity, is recommended as a simple indicator to identify at-risk WRA populations. However, there are no studies on the MDD-W among WRA in Thailand. OBJECTIVES: To determine food group diversity, MDD-W, and micronutrient intake of WRA in Southern Thailand. PARTICIPANTS: From December 2020 to November 2021, 120 healthy, young WRA (average age 33.2 ± 4.5 years) were enrolled. METHODS: A 24-h food record was used to quantitatively and qualitatively assess the food consumed. Dietary diversity was classified into ten food groups. The macronutrients and 15 micronutrients were calculated using the software program INMUCAL, which is the standard program for calculating nutrients in Thai food. The calculated intake of each micronutrient was transformed to the probability of adequacy (PA). RESULTS: The most common foods consumed were rice, followed by meat, eggs, fruits, and vegetables. Fewer than 40% of the participants consumed beans, dairy products, vitamin A-rich fruits and vegetables, dark green vegetables, and pulses. The average MDD-W score was 5 (range 2-8). The mean caloric intake (1,865 cal/day) was adequate for non-lactating WRA but was approximately 300 kcal/day lower than the recommendation for lactating WRA. Most WRA consumed lower amounts of micronutrients than those recommended. The mean PA (MPA) of the 15 micronutrients was 0.33 (range 0.0-0.9). CONCLUSIONS: Non-pregnant WRA in Songkhla consumed adequate macronutrients but inadequate micronutrients. A nutritional education program regarding the importance of micronutrients should be provided to the public, with special attention to WRA.

Thai Universal Health Care Coverage scheme promotes the accessibility to cleft lip/palate treatment: the result of cleft care provision assessment using modified Geographic Information System.

BACKGROUND: This study assessed the cleft lip/palate (CL/P) healthcare provision using data from the Thailand National Health Security Office from fiscal years 2012-2016. METHODS: Four national databases of Thailand comprising 1) admitted patient visit, 2) non-admitted patient visit, 3) birth defects registry and 4) civil registration databases were analyzed. All duplicate records were removed by a matching process using national identity number and date of birth prior to data extraction. Modified Geographic Information System was also used to compare each provincial patients with CL/P of Thailand to the number of provincial live births with CL/P. RESULTS: The results showed that the number of live births with CL/P during this period was 7,775 cases (1,555 cases/fiscal year). While the number of cases with CL/P registered under the Universal Health Care Coverage with hospital stay was 6,715 (86.37%), 927 cases (11.92%) visited hospitals without a stay, and the remaining 133 cases (1.71%) never visited any hospital. Modified Geographic Information System result showed that the provincial CL/P healthcare was relatively well-balanced with the provincial live births with CL/P (r = 0.92, p < 0.05). Moreover, provinces with CL/P tertiary care centers attracted more patients from the surrounding provinces. CONCLUSION: This study showed that the percentage of patients with CL/P receiving hospital treatment was 98. The Thai Universal Health Care Coverage scheme has promoted the accessibility to CL/P treatment. In order to achieve the best possible comprehensive cleft care coverage, periodical assessment and improvement of the function and accuracy of the national database registry are recommended.

No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome.

BACKGROUND: Little is currently known about the genetics of pilomatricoma. A number of studies have reported some evidence that this disease may have a genetic association with mutations of CTNNB1 gene or expression of the beta-catenin protein. In this study, we reviewed literatures involving 30 patients with various genetic syndromes that have been linked to pilomatricoma and found that somatic mutations of the CTNNB1 gene were reported in 67% of patients. Pilomatricoma has been reported in patients with chromosome 9 rearrangements, including 4 patients with tetrasomy 9p syndrome and one patient with partial trisomy 9. In addition to beta-catenin, the expression of bcl2 was observed in pilomatricoma. OBJECTIVES: To report an additional case of tetrasomy 9p syndrome with concurrent pilomatricoma and to examine whether abnormal protein expressions of the CTNNB1 and/or BCL2 genes were present. METHODS: Cytogenetic analysis was carried out on peripheral blood, biopsied skin, and pilomatricoma tissue obtained from a patient with tetrasomy 9p syndrome. Immunohistochemical staining was performed on the pilomatricoma tissue, using beta-catenin and bcl2 monoclonal antibodies. RESULTS: SNP microarray revealed nonmosaic gain of the short arm of chromosome 9. A nonmosaic isodicentric chromosome 9 was identified in the peripheral blood but this rearranged chromosome was detected in only 8.3% of the skin fibroblasts. Chromosomal abnormalities were not detected in the pilomatricoma nor expression of beta-catenin or bcl2 proteins in our patient. CONCLUSION: Pilomatricoma could be a new clinical feature associated with tetrasomy 9p syndrome; however, we found no evidence of tetrasomy 9p or abnormal beta-catenin or bcl2 proteins of the CTNNB1 and BCL2 genes in our pilomatricoma patient.

Correlation Between Fragmented QRS and Ventricular Function from Cardiac Magnetic Resonance in Patients with Repaired Tetralogy of Fallot.

Fragmented QRS is an abnormal sign in an ECG resulting from ventricular dyssynchrony. The presence of fragmented QRS (fQRS) is related to mortality in patients with repaired tetralogy of Fallot (rTOF). This study aimed to analyze the correlations between fQRS and ventricular function parameters from cardiac magnetic resonance (CMR) images. A total of 54 patients with rTOF or repaired DORV, TOF type who had been investigated by CMR at Songklanagarind Hospital from January 2012 to August 2019 were retrospectively reviewed. Most of the patients (47 patients, 87%) were diagnosed with TOF and most of these (57.4%) were treated with a transannular patch (TAP) on the right ventricular outflow tract (RVOT). Forty-four patients (81%) had fQRS. The median time interval between EKG and CMR was 4.2 months (IQR 1.1, 6.9). Patients with fQRS had significantly higher RVEDVi (145.6 [IQR 121.1, 173.1) vs. 115.9 [IQR 96.2, 146.9] mL/m2, p = 0.037), higher RVESVi (82.5 [IQR 62.9, 100.8] vs. 58.6 [IQR 46, 77.2] mL/m2, p = 0.032) and higher RVEDV/LVEDV ratio [1.6 (IQR 1.4, 1.9) vs. 1.4 (IQR 1.3, 1.5), p = 0.026]. The extent of fQRS was significantly associated with an increase in RVEDVi (r = 0.39, p = 0.004) and RVESVi (r = 0.45, p < 0.001) but a decrease in RVEF (r = - 0.37, p = 0.006). Fragmented QRS had higher sensitivity and lower specificity than prolonged QRS duration (≥ 160 ms) to predict all of the parameters indicating pulmonary valve replacement (PVR). Patients with rTOF who had fQRS were significantly associated with RV dilatation. The extent of fQRS had only low to moderate correlation with right ventricular parameters (RVEDVi, RVESVi and RVEF). Fragmented QRS could be used for early detection of RV dilatation and the need for PVR in patients with rTOF.

Registry-Based Study of Prevalence of Cleft Lip/Palate in Thailand from 2012 to 2015.

OBJECTIVE: Two main objectives were established. First objective was to determine the prevalence of the cleft lip and/or cleft palate (CL/P) in Thailand from 2012 to 2015 using the orofacial clefts (OFCs) registry and civil registration. Second objective was to conduct a quality control of this OFC registry especially for the Birth Defects Registration (BDR). DESIGN: Registry-based survey. SETTING: Analyzing data from the Thailand National Health Security Office. PARTICIPANTS: Registered patients with CL/P in Thailand from 2012 to 2015. INTERVENTION: None. MAIN OUTCOME MEASURE: Duplicated records were verified using National Identity Number (Thai ID#) and date of birth. The prevalence of CL/P and specific phenotypes was then calculated. From this prevalence estimate method, quality assurance of the OFCs registry was possible. RESULTS: For the main outcome, the population-weighted pool prevalence of CL/P was 2.14 per 1000 live births (95% confidence interval of 2.08-2.20). Thai ID# and expense reimbursement systems were the main factors driving this cases capturing. However, this OFCs registration still requires active case finding with clinical verification, improvement of staff training and databases networking. CONCLUSIONS: This study reported a very high CL/P prevalence of Thailand. Strengths and limitations of these OFCs registry and BDR were described.

Longitudinal 15-year follow-up of women with former early puberty: abnormal metabolic profiles not associated with earlier age at onset of puberty, but associated with obesity.

BACKGROUND: In 2011, we described 104 girls who were diagnosed as early puberty (EP) during 2003-2005. In 2019-2020, the former EP women had been followed up 14 years after attaining their final height. OBJECTIVE: To determine the reproductive function and metabolic profiles of former EP women. STUDY DESIGN: Fifty-seven former EP women were evaluated for reproductive function and examined for health status. Blood samples were obtained for metabolic profiles of glucose, lipids and insulin, and testosterone levels. RESULTS: In 2020, the average age of the study women was 22.9 ± 1.7 years. The average height was 156.7 ± 5.6 cm. The average weight had increased from 52.5 ± 7.8 kg in 2011 to 58.5 ± 11.1 kg in 2020 and average body mass index (BMI) from 21.4 ± 2.9 to 23.8 ± 4.0 kg/m2. Obesity (BMI>25 kg/m2) was found in 8.8% (five participants) in 2011 and had increased to 22.8% (13 participants) in 2020. Most participants (79%) had regular menstrual cycle. Of the 17 married women, 4 (23.5%) had 1-2 children. Dividing the participants into obese and nonobese groups, the average fasting plasma glucose, lipid profiles, and testosterone levels were similar in both groups. However, the average systolic blood pressure and the serum insulin levels and HOMA-IR assessments were significantly higher in the obese group than in the nonobese group. CONCLUSION: The former EP women had normal menstruation and reproductive function. The former EP women with average BMI at the follow-up had normal metabolic profiles while those who later became obese had significantly higher systolic blood pressure, serum insulin, and HOMA-IR assessments.

Menstrual cycle, reproductive function, body mass index, and metabolic profiles of women with former central precocious puberty: 10-20-year longitudinal cohort study in southern Thailand.

Background In 2011, we described 64 girls diagnosed with central precocious puberty (CPP) during 1995-2009. In 2019, the former CPP patients were 16-30 years of age and had been followed-up for 6-20 years after cessation of gonadotropin-releasing hormone analog (GnRHa) treatment. Objectives To determine the menstrual cycle, reproductive function, and long-term sequelae of the former GnRHa-treated and untreated CPP patients. Methods Sixty-seven former CPP women diagnosed during January 1995 to December 2010 were evaluated in 2019 for current menstrual cycle and pregnancy rate and for general health status, weight, height, blood pressure, and metabolic profiles of glucose, lipids, insulin, and testosterone. Results In 2019, the former CPP women averaged 20.7 ± 2.7 years of age (range: 16.5-30). Eighty-three percent had a regular menstrual cycle. Of the 14 married women, six (43%) were fertile with 1-2 children. The untreated women had a significantly higher rate of obesity (BMI >25 kg/m2) than the GnRHa-treated women (72.1% vs. 36.6%, p < 0.01). Two women (3%) had polycystic ovary syndrome (PCOS). Fasting plasma glucose, serum high-density lipoprotein cholesterol (HDL-C), and testosterone levels were normal and similar between the GnRHa-treated and untreated participants. The serum insulin, cholesterol, triglyceride, low-density lipoprotein cholesterol (LDL-C), and homeostasis model assessment-insulin resistance (HOMA-IR) levels were higher in the untreated group than the GnRHa-treated group, but without significant differences. Conclusions At a 10-20-year follow-up, our former CPP patients had regular menstruation, normal reproductive function, and normal metabolic outcomes. The low prevalence of PCOS of 3% suggests that CPP is not a risk factor for PCOS, at least during early adulthood.

Congenital hypothyroidism in preterm infants: a 3- to 8-year longitudinal study in southern Thailand.

Background Preterm infants are at high risk of developing congenital hypothyroidism (CH) due to the immaturity of the hypothalamic-pituitary-thyroid (HPT) axis, loss of iodine supply from the mother and preterm health problems. Objectives To study the incidence and etiologies of CH in preterm infants who were born or admitted in our institute during 2010-2015. Methods The medical records of preterm infants diagnosed with CH as defined by the thyroid-stimulating hormone (TSH) level at the time of the first or second screening >10 mU/L and/or free T4 < 1.00 ng/dL were reviewed. Results Of 2777 preterm infants, 73 cases (2.6%) were diagnosed as CH. The average TSH levels at the first and second screenings were 20.85 and 15.42 mU/L, respectively. The patients were treated with thyroxine at an average initial dosage of 15 µg/kg/day. At 2-3 years of age, after thyroxine discontinuation for 6-10 weeks and regular thyroid function tests for 2 years, 58 patients (79.5%) were diagnosed as having transient CH and 15 patients (20.5%) were diagnosed as having permanent CH. We found no clinical or laboratory parameters in the neonatal period that could differentiate permanent from transient CH. Thyroid scintigraphy (99 m pertechnetate) revealed two patients (13.3%) with ectopic thyroid, one with thyroid hypoplasia (6.7%), eight with normal thyroid (53.3%) and four with enlarged thyroid (26.7%). Conclusions CH was common in preterm infants with an estimated incidence of 2.6%. Thyroxine should be given to preterm infants with higher initial values of TSH >10 mU/L in order to prevent delayed treatment of permanent CH that could be confirmed later.

The etiologies and incidences of congenital hypothyroidism before and after neonatal TSH screening program implementation: a study in southern Thailand.

BACKGROUND: Congenital hypothyroidism (CH) is one of the common causes of intellectual disability which can be prevented by early detection of an elevated thyroid stimulating hormone (TSH) level in the newborn and by treatment with thyroxine. In Thailand, neonatal TSH screening was implemented nationwide in 2005. The objective of the study was to determine the etiologies and the estimated incidences of CH in southern Thailand before and after the implementation of a neonatal TSH screening program in 2005. METHODS: The medical records of pediatric patients who were diagnosed with primary CH at Songklanagarind Hospital during 1995-2013 were retrospectively reviewed. The study was divided into two time periods: study period 1 (SP1) (1995-2004) and study period 2 (SP2) (2005-2013), the time before and after TSH program implementation. RESULTS: The most common form of CH during SP1 was overt permanent CH (66%), mostly caused by athyreosis or ectopic thyroid. In SP2, the most common form of CH was mild permanent CH (39%) (mostly due to dyshormonogenesis), followed by overt CH (32%) and transient CH (29%). The overall annual estimated incidence of CH per 10,000 live births in Songkhla Province was 1.69 (1:5021) in SP1, increasing to 4.77 (1:2238) in SP2; in all 14 provinces in southern Thailand, the estimated incidence was 1.24 (1:8094) in SP1 and 2.33 (1:4274) in SP2. CONCLUSIONS: Neonatal TSH screening has a significant impact on the increased detection of the mild form of permanent and transient CH cases, which may be important for the prevention of brain damage from less severe CH although this remains to be documented.

Etiologies of short stature in a pediatric endocrine clinic in Southern Thailand.

BACKGROUND: Short stature is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of short stature vary and are commonly grouped into pathological and non-pathological disorders. The objective of the study was to determine the etiologies and describe the characteristics of short stature patients who attended the Pediatric Endocrinology Clinic and to compare factors between normal variant short stature (NVSS) and growth hormone deficiency (GHD). METHODS: This was a retrospective review of 572 patients referred for evaluation of short stature between January 2004 and December 2015. Short stature was defined as height below -2 standard deviation score (SDS) by gender and age based on population data of Thai children. RESULTS: In total, 521 patients were identified as having short stature. NVSS was the most common etiology (44.9%) and pathological short stature was found in 35.3% of the cases, of which 21.2% had GHD. The median age at presentation of NVSS patients was 8.6 years while that of pathological short stature patients was 2.1 years (p<0.001). Patients with NVSS had significantly higher median height SDS (HSDS) than patients with pathological diseases. The common etiologies in severe short patients, defined by HSDS ≤-3, were syndromic short stature (16.2%) and GHD (14.1%). In the moderate short stature group (HSDS between -2 and -3), constitutional delay of growth and puberty (CDGP) was the most common etiology (34.1%). CONCLUSIONS: NVSS was the most common etiology of short stature, followed by syndromic short stature and GHD. Physical examination is crucial to identify GHD from syndromic short patients.

Trends of childhood diabetes in Southern Thailand: 20-year experience in a tertiary medical center.

BACKGROUND: The incidence and/or prevalence of both childhood diabetes and the percent of type 2 diabetes mellitus (T2DM) cases in children and young adolescents have been increasing worldwide. This study aimed to examine the 20-year trends of childhood diabetes in a single tertiary medical center in Southern Thailand. METHODS: The medical records of pediatric diabetic patients, aged 0-15 years, diagnosed at Songklanagarind Hospital from 1995 to 2014 were retrospectively reviewed. RESULTS: During the 20-year period, 156 children were diagnosed with DM: 99 (63.4%) with T1DM, 43 (27.6%) with T2DM, 2 (1.3%) with neonatal diabetes, and 12 (7.7%) with secondary diabetes. The estimated incidence of new patients with diabetes per 100 000 per year doubled from 0.12 in 1995-2000, to 0.24-0.28 in 2001-2004, and further increased to 0.39-0.48 in 2005-2012 and 0.59-0.64 in 2013-2014; and also the proportion of T2DM cases increased from 10%-15% during 1995-2003 to 25%-30% during 2004-2008, and 35%-40% during 2009-2014. At the time of diagnosis, the fasting plasma glucose and glycated hemoglobin levels were significantly greater in T1DM than T2DM patients while the lipid profiles were more abnormal in T2DM than T1DM patients. CONCLUSIONS: The estimated incidences of both T1DM and T2DM in pediatric patients have increased markedly over the 20-year period, and also the percentage of T2DM cases, from 10%-15% in 1995 to 35%-40% in 2014.

Common Clinical Characteristics and Rare Medical Problems of Fragile X Syndrome in Thai Patients and Review of the Literature.

Background. Clinical characteristics of fragile X syndrome (FXS) have been well documented in Caucasians, whereas in Asians they have rarely been described. Those that have been conducted used small cohorts that utilized DNA for diagnosis and larger cohorts that utilized cytogenetics for diagnosis. This study is to describe clinical characteristics of FXS in a large cohort of Thai patients diagnosed by standard molecular methods. Methods. Seventy-seven index cases and 46 affected relatives diagnosed with FXS were recruited into the study. To determine frequencies of common characteristics of FXS in prepubertal boys, we reviewed 56 unrelated cases aged between 18 and 146 months. To list rare medical problems, we reviewed 75 cases aged between 8 months to 71 years old, including 53 index cases and 22 affected relatives. In addition, we selected 16 clinical studies from various ethnicities for comparison with our findings. Results. In prepubertal boys with FXS, attention deficit and/or hyperactivity, prominent ears, macroorchidism, and elongated face were observed in 96%, 80%, 53%, and 48% of patients, respectively, whereas recognizable X-linked inheritance presented in 11% of patients. IQ scores ranged between 30 and 64 (mean ± SD = 43 ± 9, n = 25). We observed clinical findings that rarely or have never been reported, for example, medulloblastoma and tetralogy of Fallot. Conclusion. Attention deficit and/or hyperactivity and prominent ear are the most common behavioral and physical features in prepubertal boys with FXS, respectively. There are differences in frequencies of clinical characteristics observed between ethnicities; however, it is difficult to draw a solid conclusion due to different recruitment criteria and sample sizes within each study.

Comorbidities in Down syndrome livebirths and health care intervention: an initial experience from the birth defects registry in Southern Thailand.

BACKGROUND: Down syndrome (DS) is the most common chromosomal disorder causing mental retardation with a worldwide average prevalence of 1-2 cases per 1000 births. This study aimed to determine the comorbidities associated with DS and the coverage of health care services and developmental interventions for DS livebirths in Southern Thailand. METHODS: A total of 149 livebirth DS infants, recruited through the prospective birth defects registry system during 2009-2013 in 3 provinces in Southern Thailand, were regularly followed-up every 3-6 months. The data collection form included the infants' demographic data, associated congenital anomalies, and developmental interventions. RESULTS: The DS infants were born at an average gestational age of 38.5±2.3 weeks with average birth weight of 2760±478 g, length 48.5±2.2 cm, and head circumference 32.7±1.2 cm. Congenital heart diseases, gastrointestinal defects and congenital hypothyroidism were found in 43.0%, 6.7%, and 12.1% of the cases, respectively. The percentage of DS infants who received developmental interventions in this current study were significantly greater than in a previous study covering the years 1992-2002: early stimulation program 90.0% vs. 65.6% (P<0.01), and speech training program 74.8% vs. 38.9% (P<0.01), respectively, and the infants in our study began intervention programs significantly earlier, 0.58±0.39 years vs. 1.69±0.66 years, respectively. CONCLUSIONS: Congenital heart disease was the most common comorbidity associated with DS. The coverage of health care services and developmental interventions for DS children has generally improved in Southern Thailand. One hundred percent coverage of health services and interventions for children with special needs is expected in the near future.