Effect of pubertal suppression on linear growth and body mass index; a two-year follow-up in girls with genetic short stature and rapidly progressive puberty

Gonadotropin-Releasing Hormone agonists [GnRHa] are used to improve the final adult height in short stature children. There are limited studies which address the potential side effect of these agents: excessive weight gain. We have followed girls with rapidly progressive puberty receiving GnRHa and results were focused on the effect of treatment on final height, weight and body mass index. Thirty girls between 8.5 and 12 years with short stature and predicted adult height of less than 155 cm were enrolled in the study. All had rapidly progressive puberty. Weight and height measurements were done at the beginning of treatment, 6 and 12 months after starting and 6 and 12 months after the cessation of treatment Bone age and stages of puberty were estimated at the beginning of treatment, after 12 months of starting and 12 months after the treatment was stopped. Predicted adult height [PAH] changes during treatment were not significant There was no significant difference between final height and weight according to the body mass index [BMI], PAH or bone age. We conclude that girls with genetic short stature and rapidly progressive puberty will not benefit receiving a one-year course of GnRHa and there is no significant difference between the final height and final weigh among children according to BMI

Cardiovascular involvement in children with osteogenesis imperfecta

Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with Osteogenesis imperfecta. The present study aimed to investigate the prevalence of cardiovascular abnormalities in these patients. 24 children with Osteogenesis imperfecta and 24 normal children who were matched with the patients regarding sex and age were studied. In both groups, standard echocardiography was performed, and heart valves were investigated. Dimensions of left ventricle, aorta annulus, sinotubular junction, ascending and descending aorta were measured and compared between the two groups. The results revealed no significant difference between the two groups regarding age, sex, ejection fraction, shortening fraction, mean of aorta annulus, sinotubular junction, ascending and descending aorta, but after correction based on the body surface area, dimensions of aorta annulus, sinotubular junction, ascending and descending aorta in the patients were significantly higher than those in the control group [P<0.05]. Two [8.3%] patients had aortic insufficiency and five [20%] patients had tricuspid regurgitation, three of whom had gradient >25 mmHg and one patient had pulmonary insufficiency with indirect evidence of pulmonary hypertension. According to Z scores of aorta annulus, sinotubular junction and ascending aorta, 5, 3, and 1 out of 24 patients had Z scores >2 respectively. The prevalence of valvular heart diseases and aortic root dilation was higher in children with Osteogenesis imperfecta. In conclusion, cardiovascular investigation is recommended in these children

side effects of gonadotropin releasing hormone analog [Diphereline] in treatment of idiopathic central precocious puberty

Treatment of central precocious puberty [CPP] is the administration of GnRH analogs. Metabolic syndrome comprised metabolic disturbances that confer increased risk of [CVD] diabetes mellitus [DM] and cardiovascular disease. This study is a longitudinal prospective study in pediatric endocrinology clinic. 30 non-obese children with idiopathic CPP were involved. Total body weight, height, blood pressure, BMI and waist circumference of the patients along with their triglyceride [TG], total cholesterol [TC], low density lipoprotein [LDL], high density lipoprotein [HDL], fasting plasma sugar [FPS] were evaluated at the beginning and during 3 and 6 months GnRH analog therapy. All of the patients involved in this study were female with age 9.5 +/- 1.02 years. Waist circumference, weight and BMI were 69.3 cm, 37.21 kg, and 19.13 kg/cm[2] before therapy and 72.25 cm, 40.11 kg, and 19.54 kg/m[2] 6 months after therapy respectively. Mean systolic and diastolic blood pressure of the patients before therapy was 96.83 mmHg, 66mmHg and after 6 months therapy was 98.66 mmHg, 89.63 mmHg respectively. Mean TG, LDL, HDL and FPS were 90.06 mg/dl, 91.6 mg/dl, 43.7 mg/dl and 89.6 mg/dl before therapy and 96.4 mg/dl, 93.1 mg/dl, 44.7 mg/dl and 91.36 after 6 months therapy respectively. GnRH analog therapy doesn't cause metabolic syndrome after 3 and 6 month therapy but it may cause hyperlipidemia and central obesity

Does congenital hypothyroidism have different etiologies in Iran?

To determine the prevalence of congenital hypothyroidism [CH], permanent and transient CH. From November 2006 to September 2007, 63031 newborns were screened by measuring serum TSH obtained by heel prick. The neonates who had a TSH>/=5mU/L were recalled for measurement of serum T[4], thyroid stimulating hormone [TSH] and TSH receptor blocking antibodies [TRBAb] in venous samples. In 43 primarily diagnosed as cases of CH, treatment was discontinued at age 2-3 years for 4 weeks and T[4] and TSH were measured again. Permanent or transient CH was determined from the results of these tests and radiologic evaluation. The incidence of congenital hypothyroidism was found to be 1:1465 with a female to male ratio of 1.19:1. The most common clinical findings were prolonged jaundice [73%], large anterior fontanel [56%] and wide posterior fontanel [55%]. In 43 patients with CH, prevalence of permanent and transient form of the disorder was 53.6% and 46.4% respectively. Permanent CH was associated with higher initial TSH level than transient hypothyroidism [P<0.001]. The most common etiology of permanent CH was dyshormonogenesis [57%]. TRBAb was found in 6.8% of the total 43 cases. Congenital hypothyroidism in Iran may have different etiologies. Due to higher rate of transient CH than other similar researches, it is reasonable to follow these patients for a longer period to rule out the possibility of permanent hypothyroidism

Lowe syndrome: report of a case and brief literature review

The oculocerebrorenal syndrome of Lowe [OCRL] is a rare x-linked recessive disorder first described in 1952. This syndrome is characterized by ocular involvement, mental retardation and kidney disease. The causative gene is OCRL1. Survival rarely exceeds 40 years. A 13-year-old boy was referred because of short stature. In physical examination his height was 108.2 cm. He had poor growth, psychomotor retardation, severe hypotonia, congenital cataract which was operated on earlier in life, searching nystagmus, anti social behavior and used foul language. He had been on treatment for renal tubular acidosis [Fanconi syndrome] since 8 month of age. The possibility of OCRL should be considered in boys with cataracts and glumerolar disease. As the condition can be diagnosed in first months of life, early treatment can prevent patients from various complications

Ellis van creveld syndrome: report of a case and brief literature review

Ellis van Creveld syndrome [EvCS] is a rare autosomal recessive [AR] disorder first described in 1940. The syndrome manifests with several skeletal, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. EvCs should be differentiated from other chondrodystrophies such as achondroplasia and Morquio's syndrome. A nine-year old girl was referred with short stature. In physical examination her height was 105 cm. She had normal intelligence, small teeth, abnormal crown and adontia in mandibular incisors. Other findings included bilateral postaxial polydactyly in hands, narrow thorax, hypoplastic nails in hands and feet and genu valgum. Ellis van Creveld syndrome is a rare autosmal disorder with a high mortality in early life. As the condition is easily diagnosed at birth, early treatment can prevent patients from various complications and undue psychological trauma