Determination of Bone Density by DEXA Method Based on Bone Age and its Comparison with Chronological Age in Chronic Patients.

Background and Objective: Given the growing awareness about the important role of children's age in building bone for a person's life, physicians need to assess bone health in high-risk children for bone density disorders more than before to optimize their bones' density and prevent osteoporosis in future. The aim of this study was to evaluate bone density based on chronological and bone age. Materials and Methods: In this cross-sectional study, 80 Patients who have been referred for bone density to the Osteoporosis Centre of the Children's Medical Centre over a one-year period (spring 98 to spring 99) were studied. Bone density was performed for all patients by using DEXA method. Results: The z-score mean chronological age for the lumbar spine was -0.8± 1.85 years and bone age was -0.58±1.64 years. The z-score mean chronological age for femoral bone was -1.6±1.02 years and bone age was -1.32± 1.4 years. Conclusion: Results showed that in all patients, the difference in the mean Z score of chronological age and bone age of the spine between patients was not significant but for femur was significant. Also, use of corticosteroids leads to significant difference between the two age groups' z-score in femur and spine.

Insulin edema in a child with diabetes mellitus type 1.

Despite the essential role of insulin in the management of patients with diabetes mellitus type 1, insulin use can cause a variety of adverse effects, such as hypoglycemia and weight gain. Herein, we describe an adolescent girl with type 1 diabetes mellitus diagnosed one year ago, who presented with edema of the lower extremities approximately two weeks after an increase in the insulin dose; other causes of edema were excluded. Spontaneous recovery was observed in the patient.

The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation.

INTRODUCTION: Allan-Herndon-Dudley Syndrome (AHDS) is a rare X-linked recessive intellectual disability condition with neuromuscular involvements. Altered thyroid function tests are major milestones in AHDS diagnosis. However, due to phenotypic variations in the levels of thyroid hormones in AHDS patients, we believe that the disorder is often underdiagnosed. Here, we reported a 3.5-year-old boy with an AHDS diagnosis and healthy thyroid hormones. METHODS: Whole-Exome sequencing followed by data analysis was performed on the patient's sample. The mutation was confirmed by Sanger sequencing in the patient and his mother. RESULTS: We reported a 3.5-year-old boy with AHDS diagnosis and a novel synonymous missense mutation (c. 1026G>A) in the SLC16A2 gene manifesting normal levels of T3, T4, and TSH. The mutation causes no change in amino acid sequence; however, it affects splicing through alteration of an exonic splicing enhancer. To the best of our knowledge, there are only 3 similar reports in the literature reporting AHDS diagnosis and normal levels of thyroid hormones. CONCLUSION: The altered levels of thyroid hormones are notable but not necessary markers for diagnosing AHDS. The candidate diagnosis of AHDS should be considered in patients with X-linked recessive intellectual disability syndrome with neuromuscular involvements irrespective of levels of thyroid hormones; otherwise, it could lead to the under-diagnosis of the disorder.

Pubertal development in a random sample of 4,020 urban Iranian girls.

BACKGROUND: Entering puberty is an important milestone of human growth and maturation associated with marked physiological and psychological changes. AIM: To assess normal pubertal development in Iranian girls to define normal and precocious puberty. METHODS: The present study included a cross-sectional sample of 4,020 normal Iranian girls living in Tehran, aged from 6-20 years. Pubertal assessment was made according to Tanner staging. The mean ages of attaining secondary sexual characteristics were estimated using probit analysis. Weight and height were measured and body mass index (BMI) was calculated. RESULTS: The mean age at breast bud stage (B2) was 10.15, pubic hair stage (PH2) was 10.48, and menarche was at 14.54 years. The mean age at attainment of puberty was compared with those of other populations. CONCLUSION: Girls of the present study started pubertal development at an age similar to other populations but reached menarche later. Differences between the present study and other studies can be attributed to various genetic, ethnic, geographical, and nutritional factors.

Pericentric Inversion of Chromosome 9 in an Infant With Ambiguous Genitalia.

Pericentric inversion of Chromosome 9 is one of the most common chromosomal abnormalities, which could be associated with various manifestations in some cases. Herein, a patient is presented with ambiguous genitalia that karyotyping revealed pericentric inversion of Chromosome 9 (p12,q13). Pericentric inversion of Chromosome 9 could be considered in the list of differential diagnosis of those with ambiguous genitalia, while chromosomal karyotype and culture could be recommended in children with ambiguous genitalia.

Altered Suppressor Function of Regulatory T Cells in Type 1 Diabetes.

BACKGROUND: Type 1 diabetes (T1D) is a T cell mediated autoimmune disease targeting the insulin-producing ß cells within pancreatic islets. Autoimmune diseases may develop as a consequence of altered balance between regulatory (Tregs) and autoreactive T cells. OBJECTIVES: To evaluate Treg cells frequency and suppressive function in the peripheral blood of newly diagnosed T1D patients in comparison with healthy controls. METHODS: Fifteen new cases of T1D patients and 15 age- and sex- matched healthy controls were recruited to this study. Their peripheral blood mononuclear cells (PBMCs) were isolated and CD4+CD25+FoxP3+CD127-/low Treg cells were studied by flowcytometry technique. Thereafter, Tregs were isolated by Magnetic-Activated Cell Separation (MACS) technology and by using CFSE (carboxyfluorescein succinimidyl ester) dilution assay, their suppressive activity was evaluated in the coculture of CD4+CD25- T responder cells with Treg cells. RESULTS: The percentage of CD4+CD25+FoxP3+CD127-/low Tregs did not differ between T1D patients and healthy controls but the MFI (mean fluorescence intensity) of transcription factor FoxP3 (forkhead box protein P3) was significantly decreased in T1D patients (20.03 ± 1.4 vs. 31.33 ± 2.95, p=0.0017). Moreover, the suppressive function of CD4+CD25+CD127-/low Treg cells was significantly diminished in T1D patients in comparison with control group (35.16 ± 4.93% vs. 60.45 ± 5.26%, respectively, p=0.0015). CONCLUSION: Present study indicates an impaired immune regulation among T1D patients, characterized by defects in suppressive function and expression of FoxP3 in Treg cells without any significant decrease in their frequency in peripheral blood.

AGPAT2 gene mutation in a child with Berardinelli-Seip congenital lipodystrophy syndrome.

Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is an autosomal recessive disorder, caused by mutation in the AGPAT2 gene, which could lead to insulin resistance and variety of complications. Herein, a 7-year old girl is presented with generalized loss of subcutaneous fat, prominent pectoral and thigh muscles and an early telarche. Laboratory studies revealed an elevated level of serum triglyceride. Ultrasonograph demonstrated enhanced size of ovary containing multiple mature follicles. Considering the clinical phenotype, AGPAT2 gene was sequenced which showed homozygote c.514G>A mutation. Therefore, the diagnosis of BSCL was confirmed in this patient.