new case of Chanarin-Dorfman syndrome with a novel deletion in ABHD5 gene

Chanarin-Dorfman syndrome [CDS] is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of alpha/beta-hydrolase enzyme [ABHD5]. It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as new cases of CDS. Genetic analysis was performed in patients, and the results showed a homozygote deletion in exon 4 of ABHD5. According to the American College of Medical Genetics and Genomics, this variant is categorized as a pathogenic variant

Problem-solving skills in children with early treated phenylketonuria

This study aimed to investigate the level of problem-solving skills in 1-4 year-old children with early treated phenylketonuria [ETPKU]. This analytic, cross-sectional study was conducted on 70 1-4 year-old children referred to phenylketonuria [PKU] clinics that had been diagnosed on screening at birth and had been treated. The measurements were a demographic questionnaire, Ages and Stages Questionnaire [ASQ] and clinical assessment by a pediatrician. One hundred children were also selected randomly from Tehran's kindergartens as the control group, who also completed the above questionnaires. Data were analyzed by SPSS 19.0 software. The mean age of the children was 29.71 months in the control group and 28.51 months in the case group. There were no significant differences between the two groups regarding the type of delivery and the current and birth heights, weights and head circumferences. There was a significant difference between the two groups regarding problem-solving developmental skills [P < 0.000]. The level of problem-solving developmental skills in the children with ETPKU was lower than normal children. It seems that Iranian children with ETPKU, regardless of being on a diet, have lower problem-solving skills. It is recommended to revise their diet and treatment and also to plan programs for early detection, and to carry out interventions for developmental delays in these children

Etiology of precocious puberty, 10 years study in endocrine research centre [firouzgar], Tehran

Precocious puberty, as early physical development and low final height might lead to psychosocial problems. To evaluate etiology and clinical feature of precocious puberty in a cohort of Iranian children. In this case-series study, 44 girls and 8 boys with precocious puberty referred to Endocrine Research Centre [Firouzgar], Institute of Endocrinology and Metabolism [Hemmat Campus], were examined in a 10 years period of time. Mean age of girls and boys was 7.43 +/- 1.4 years and 5.8 +/- 2.1 years respectively. most of the patients fell within the age category of 7-7.9 years old [40.9% for girls and 50% for boys]. Patients, concerning etiology of precocious puberty were classified in three categories: 42.6% of patients had central precocious puberty [CPP], including idiopathic CPP [87.5%] and neurogenic CPP [12.5%]. 23.3% of patients had peripheral precocious puberty [PPP], including congenital adrenal hyperplasia [CAH] [42.8%], ovarian cysts [28.4%], McCune-Albright syndrome [14.2%] and adrenal carcinoma [14.2%]. 34.1% of girls and 25% of boys had normal variant puberty including premature thelarche p57%], premature adrenarche [38%] as well as premature menarche [4.7%1]. The most common etiology of precocious puberty in girls was idiopathic central precocious puberty and premature thelarche, while in boys they were neurogenic central precocious puberty and CAH. Therefore precocious puberty in girls is usually benign. In boys, CNS anomalies should first be considered in the differential diagnosis of CPP. Therefore brain Magnetic Resonance Imaging [MRI] is mandatory in all cases

Effects of growth hormone on muscle strength, tone and mobility of children with Prader-Willi syndrome

Prader-Willi Syndrome [PWS] is a genetic syndrome presenting with severe hypotonia and decreased agility. Growth Hormone [GH], which is often used in these patients to treat short stature and obesity, seems improve hypotonia, physical strength, activity, and locomotor developmental ability. The aim of this study was to find the effects of growth hormone on agility and strength of these patients. In a prospective randomized controlled clinical trial in an out-patient pediatric endocrine clinic in Tehran, 21 PWS children [12 boys and 9 girls, 4 to 9 years old] were divided into either GH-treated or control groups and followed for two years. Agility run, sit ups, weight lifting, and inspiratory and expiratory strength were considered as the main outcome measures. All the outcome measures of the GH treated group showed a significant improvement compared to the control group. GH causes a significant improvement in agility and strength of PWS children

[ study of the hyperuricemia in obese children and correlation between hyperuricemia and factors related to the obesity]

Recently obesity in pediatric population is rising fast and its early onset complications [like those seen in adults] are keeping pace with it. It seems that a high level of urinary uric acid [UUA] could be the result of reproduction of uric acid in the body. On the other hand, it was shown to be the result of decreased urinary clearance of uric acid in some obese adults. Target of study is the mechanism of hyperuricemia in obese children and also the correlation between hyperuricemia and factors related to the obesity. We studied 75 severely obese children [42 boys and 33 girls] and compared them with 30 non-obese children [20 boys and 10 girls]. Serum leptin, lipid profile, liver tranaminases, uric acid and creatinine and also 24 hours urinary uric acid and creatinine were measured, and uric acid clearance was calculated in each case. Serum uric acid level [U.A] in obese children were significantly higher than those in control children, but urinary uric acid [UUA], uric acid clearance [CUA] and fractional excretion of uric acid [FEUA = CUA/CCR * 100] were lower in the obese children than those in controls. The low UUA in the obese children suggests that their hyperuricemia was not the result of over intake of food containing uric acid. There was a close correlation between uric acid and age/body weight and it becomes closer as they aged and gained weight. These results suggest that hyperuricemia in obese children is mainly attributable to impaired renal clearance of uric acid and not to overproduction in the body and it will higher age and body weight

[Etiology of delayed puberty in the institute for endocrinology and metabolism]

Delayed puberty is defined as lack of breast development after the age of 13 years in girls, and lack of testes enlargement after the age of 14 years in boys. Considering the importance of delayed puberty, the present study tries to analyze its etiological factors. It is hoped that the study would help developing programs, aiming at drawing the attention of families, health centers and physicians to the necessity of early diagnosis and timely treatment of delayed puberty. In this observational descriptive study, we reviewed the etiology of delayed puberty in affected patients, who had been referred to the Institute for Endocrinology and Metabolism in Tehran, during a period of 5 years from 1995 to 1999. Patients [32 boys and 16 girls] were divided into 3 groups based on clinical and laboratory information. 24 patients [50%] were categorized in the group of hypogonadotropic hypogonadism [including 18 cases with isolated hypogonadotropic hypogonadism, 2 cases of Kallmann-syndrome, 3 cases with hypopituitarism, 1 case with hypogondism and thalassemia]. 14 [29.2%] patients including 13 boys and 1 girl were categorized in the group with constitutional delay of growth and puberty. 10 patients [20.8%] were categorized in the group with hypergonadotropic hypogonadism [including 6 cases with Turner syndrome, 2 cases with Klinefelter syndrome, 2 cases with 46XX pure gonadal dysgensis]. The most common cause of hypogonadism in boys was constitutional delay of growth and puberty [40.6%] and hypogonadotropic hypogonadism [40.6%] while in girls it was Turner syndrome [37.5%]. The most common cause for patients to be referred was short stature [43/5%] and then non appearance of pubertal signs [37.5%]. When facing patients with delayed puberty, hypergonadotropic hypogonadism in girls, and constitutional delay of growth and puberty as well as hypogonadotropic hypogonadism in boys, should be considered as the first diagnosis. In all patients, who are referred due to short stature, the stage of puberty should be determined and delayed puberty should be considered as differential diagnosis