[Post treatment thyroid dysfunction and obesity in children with acute lymphoblastic leukemia and non-hodgkin's lymphoma: a brief report]

In most children with Acute Lymphoblastic Leukemia [ALL] and Non Hodgkin's Lymphoma [NHL] who have received chemotherapy with and without radiotherapy, some late effects due to treatment may occur such as endocrinopathies. We evaluated growth criteria [including short stature, obesity] and thyroid test function in 50 children with ALL [n=25] and NHL [n=25] 3-17 year-old in remission period who randomly received chemotherapy with [n=25] or without [n=25] radiation such as our treatment groups. The values for height, weight and BMI in less than 5[th] or more than 95[th] percentile considers abnormal. Six [12%] patients were in less than 5[th] percentile height [short stature]. Two patients [4.0%] had over-weight and 48 [96%] were in normal range of BMI. Six [12%] patients were in less than 5[th] and 3 [6%] were in more than 95[th] weight percentile. There was no significant difference between two different treatment groups for TSH [P=0.662] but there was a significant difference between these groups in case of T4 [P=0.049]. Mean and SD for T4 in patients with chemotherapy alone was less than in whom received chemotherapy plus radiotherapy. There was no significant difference between ALL and NHL groups for TSH, T4 [P=0.567, 0.528 respectively]. Two boys with ALL without history of radiation had hypothyroidism that had based on their laboratory data. Regarding to effects of thyroid dysfunction on short stature and obesity in adolescent with ALL and NHL, we suggest to have more attention about growth, thyroid test to avoid late side effect of malignancy treatment

Precocious puberty: An unusual presentation of hypothyroidism

Hypothyroidism is usually associated with delayed pubertal development but in rare occasions precocious puberty may ensue which is seen in cases of prolonged and untreated hypothyroidism. This is also called the Van Wyk Grumbach syndrome. Here we present 4 cases of precocious puberty due to hypothyroidism

Novel mutation in the SLC19A2 gene in thiamine-responsive megaloblastic anemia [Rogers' syndrome]

The Thiamine Transporter gene SLC19A2 is the only gene known to be associated with TRMA. This syndrome is a trial clinical characterized by megaloblastic anemia, nonautoimmune diabetes mellitus and sensory-neural hearing loss. Described here are three children from consanguineous Iranian families with thiamine - responsive megaloblastic anemia [TRMA] or Rogers' syndrome. Case one and two were siblings of healthy first-cousin parents and case three from a healthy second-cousin couple. These cases presented with hyperglycemia, anemia, and hearing loss. Thiamine reversed the anemia and there was a satisfactory response for the hyperglycemia as well. In all three patients, direct sequencing revealed a homozygous mutation c.38 G>A [P.E.128K] resulting in the substitution of glutamic acid to lysine at position 128 in exon 2 of the SLC19A2 gene on chromosome 1q23.3. This novel mutation was confirmed by the PCR RFLP assay of more than 100 control alleles. TRMA or Rogers' syndrome should be considered for patients with diabetes [DM] and other symptoms, including hearing loss and anemia. Early diagnosis can assist families in planning future pregnancies. The administration of thiamine ameliorates the megaloblastic anemic condition and produces a better response in DM

Clinical and molecular genetic analysis of Iranian patients with neonatal diabetes demonstrating mutations in KCNJ11 gene

We screened the KCNJ11 gene from 35 individuals clinically diagnosed with type 1 diabetes mellitus under the age of 6 months in 3 years duration. Six different heterozygous missense mutations were found in 7 of the 35 probands, which accounted for 20% of all individuals. A novel mutation W68R [No Locus, GU170814; 2009] was identified in the kir6.2, the pore-forming subunit of the KATP channels from pancreatic beta -cells. Our results demonstrated that activating mutations in KCNJ11 gene could cause Permanent Neonatal Diabetes Mellitus [PNDM] with onset prior to six months

[Evaluating the correlation between HbA1C and growth parameters, lipid profile in children and adolescents with type 1 diabetes]

Type 1 diabetes is the most common endocrine disorder in children. The disease is associated with a variety of complications including growth abnormalities. The aim of this study was to evaluate the role of diabetes and blood sugar control on physical growth [height and weight], growth parameters and lipid profile. This descriptive cross- sectional study took place from July 2006 to July 2007. A total of 154 children and adolescents with diabetes type 1, evaluated for their growth parameters, lipid profile, and its correlation with duration of diabetes and mean HbA[1C]. The mean age of diabetes diagnosis recorded 6.2 +/- 3.1 year. The mean height growth velocity was 4.8 +/- 1.48 cm and the mean weight growth velocity 3 +/- 1.5 kg in one year. In the first group with HbA1c /= 8 [mean +/- 1SD], yearly height and weight growth velocities measured 3.2 +/- 1.22 cm and 3.03 +/- 1.2 kg in turn. Moreover, in the first group TC, LDL, HDL and TG were 163.1 +/- 34 mg/dl, 109.3 +/- 22 mg/dl, 49.5 +/- 1 mg/dl, 116.3 +/- 55 mg/dl and in the second group 172.6 +/- 46 mg/dl, 122.4 +/- 80 mg/dl, 48.5 +/- 1 mg/dl, 153.3 +/- 1.5 mg/dl in the order mentioned. In the group with disease duration less than 5 years, height and weight growth velocities were 5.7 +/- 1.4 cm and 3.3 +/- 1.6 kg and in group with disease duration more than 5 years, height and weight velocities reported 3.74 +/- 1.2 cm and 3.3 +/- 1.2 kg annually respectively. According to this study, there was no correlation between the mean of height, weight growth velocities and metabolic control in both groups. However, the height growth disorder and increase in the level of TG were correlated with the duration of disease. Also, lipid profile [dislipidemia] was associated with the lack of metabolic control

study of delayed puberty in females referred to pediatric endocrine clinic for 5 years [from 78/12/29 to 82/12/1]

The study of causes of delayed puberty in female referred to pediatric endocrine ward of university centers of Mashhad University of Medical Sciences from 1374 to 1382. This study was done both retrospectively and prospectively in a descriptive analytic manner. The studied population were 31 girls with delayed puberty referred to endocrinology pediatric clinic. The data was collected through history, physical examination, completing questionnaires, and was compared by T Test student Statistical analysis performed with SPSS-excel. On the whole, 31 girls with delayed puberty were studied. The mean age of the patients was 14.93 +/- 1.46 yr. Average bone age and weight was 10 +/- 1.5 and 31 +/- 8.3 gr respectively. Z score of Height and weight for Age was -3.83 an -2.68 respectively. Serum estradiol level in all patients was less than normal. Delayed puberty in 27% was constitutional, 23% had Turner syndrome. Major thalassemia was the cause in 13% of the cases. The prevalence of hypothyroidism in the population was 10% other systemic diseases such as, fancony syndrome etc were the less common causes of delayed puberty. Constitutional delayed puberty [27%] and Turner syndrome [23%] were the most common causes of hypogonadism and delayed puberty which concurs with other studies. The prevalence of major thalassemia [13%] is more than other studies which needs further studies. Attention to signs of puberty in the girls referring to physician at the time of puberty, leads to early diagnosis of delayed puberty in the patients. And also karyotype study is recommended in all girls with short stature and growth retardation