Balanced reciprocal translocation t[X;1///////////////] in a girl with tall stature and primary amenorrhea

Chromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome due to nonrandom X-inactivation. In this article, we describe a healthy 15.5-year-old girl with primary amenorrhea, gonadal dysgenesis, and tall stature without other manifestations of the Turner syndrome. Relevant clinical, biochemical, endocrinological, and cytogenetical evaluations were performed. Initial investigations revealed hypergonadotropic hypogonadism [FSH=134 mIU/mL [normal=10-15 mIU/mL], LH=47.5 [normal=10-15 mIU/mL], and estradiol=24.3 pmol/L]. On ultrasound examination of the pelvis, streak ovaries with a hypoplastic uterus were noted. Chromosome study, performed according to routine procedures, revealed an apparently balanced reciprocal translocation involving the short arm of chromosome 1[p2] and the long arm of the X chromosome [q2] in all the cells with the following karyotype: 46,X,t[1;X][p13;q22]. She was placed on hormone replacement therapy. In our patient, X-autosome translocation was associated with gonadal dysgenesis and tall stature. We conclude that t[X;1] may be associated with gonadal dysgenesis without other congenital abnormalities. To our knowledge, normal phenotype with gonadal dysgenesis and tall stature in association with t[X;1] translocation has not been previously reported

Dental health status and hygiene in children and adolescents with type 1 diabetes mellitus

Background: There is disagreement on the effect of diabetes on oral hygiene. The purpose of this study was to assess the oral health and hygiene status of type 1 diabetic patients

Methods: In this case control study, periodontal health and hygiene of 80 children and adolescents [5-18 yr of age] with type 1 diabetes mellitus referred to Pediatric Endocrine Clinic of Besat Hospital Hamadan Iran 2013 - 2014 and 80 non diabetic control subjects were clinically assessed. The required data such as sex, age, duration of the diabetes, type and number of insulin injections per day were obtained from self-administered questionnaire and the patient's medical records. Participants in both groups were examined for Decay-missing- filled teeth [DMFT]; dmft [or primary teeth], oral hygiene using O'Leary plaque index [PI] and gingivitis index [Gl]. P<0.05 was considered significant

Results: The mean age of the study and the control group was 12.5+/-4.05 and 12.08+/-3.47 yr, respectively. There were no significant difference between two groups in terms of DMFT [P=0.158] and PI indices [P=0.373]. The Gl index difference was statistically significant in diabetic group [P=0.001]. Interestingly, a higher dmft index was observed in the control group [F=0.008]. In diabetic groups, Gl and DMFT index increased significantly with duration of diabetes

Conclusions: Apart from higher scores of Gl index, frequency of oral and periodontal disease was not different in diabetic patients compared with healthy subjects. Findings of present study are insufficient to support a significant effect of diabetes on increasing the risk of oral and periodontal diseases. However, diabetic children and adolescents should receive oral hygiene instructions

Demographic characteristics of type 1 diabetic children and adolescents in Hamadan, Iran

Background: Type 1 diabetes mellitus is the most common endocrine disease in pediatric. We aimed to determine the demographic characteristics at presentation of childhood type 1 diabetes mellitus in Hamadan, west province of Iran

Methods: In this cross sectional descriptive study, demographic data of children with type 1 diabetes mellitus being followed up in Pediatric Endocrinology Clinic of Besat Hospital Hamedan Iran, were analyzed. A detailed record of the required information including the age, sex, Place of living[urban, rural], season, disease presentation, parental consanguinity [1st cousin relation],The mean mother's age at delivery, BMI ,birth seasonality and birth order were collected. The data was analyzed by standard statistical package SPSS, version 15.0. Results with p-value less than 0.05 were defined as statistically significant

Results: In total, 150 patients were included. The mean age at diagnosis was 8.47 +/- 3.17 yr. The majority of patients were urban. The frequency of disease was higher in summer. BMI percentile of most cases was between 5[th] to 85[th]. The frequency of positive family history was 10.7%. Among the studied patients, 18.7% had parental consanguinity. The mean mother's age at delivery was 25 +/- 5.3 yr. Of the studied patients, 82.7% were exclusively breastfeed and 43% were the first child of family. About 13.3% had co-occurring endocrine disease

Conclusions: Age at diagnosis and sex of our patients was similar to the world reported. But, seasonal variation is different in our region. The frequency of a family history of type 1 diabetes in first and second degree relatives was relatively high. Hypothyroidism was the most frequently observed co-occurring endocrine disease

Prevalence of anabolic steroid use and associated factors among body-builders in Hamadan, western province of Iran

Androgenic-anabolic steroids [AAS] are abused by a growing number of bodybuilders. This descriptive cross-sectional study was conducted to determine prevalence and patterns of AAS use by bodybuilders in Hamadan, western Iran. In this cross-sectional study, participants were recruited from five gym clubs in two area of Hamadan [a total of 10 clubs]. Twenty-five bodybuilders from each club were administered. Questions investigating demographic information, sport history, education level, general knowledge about AAS, and their side effects were asked. Statistical analysis was performed using SPSS 16. The frequency of AAS use was 28.8% [72/250]. Fifty-four percent of users were 25 years or younger. AAS abuse showed a significant association with duration of exercise. The drugs were suggested mostly from peers [43.1%] and coaches [36.1%]. The most commonly consumed anabolic steroid was testosterone [66.7%]. The most commonly reported AAS side effect was acne [18.1%]. There was not significant association between general knowledge about side effects of ASS and their use. The results of current survey indicate that frequency of ASS use is high in adolescents and young adult bodybuilders. Well educated bodybuilders have a higher prevalence of abuse. Awareness about the side effects of drugs is not deterrent factor for their abuse. Iranian Ministry of Sport and the Youth, and the National Council for Youth, should be urged to conduct more effective prevention strategies

Linear growth arrest without weight gain due to overuse of topical clobetasol

Prolonged potent topical glucocorticoid therapy in infants can cause iatrogenic Cushing's syndrome. This case highlights the rarity of poor weight gain in iatrogenic Cushing's syndrome. A 17-month-old boy was referred to outpatients pediatric endocrine clinic for evaluation of growth failure. On presentation his weight was 9.7kg [5[th] percentile] and height was 72cm [-3.6 SD below mean for age and sex]. Systemic examination revealed grossly moon-like face, hypertrichosis and thin skin in the genital area. His mother reported using local clobetasol for the previous seven months for his diaper dermatitis. Baseline plasma cortisol was low [0.3ng/ml, normal range: 60 to 280ng/ml]. During standard dose of synthetic adrenocorticotropic hormone test, the peak cortisol level was 0.4ng/ml [N>180ng/ml] and was consistent with hypothalamic-pituitary-adrenal axis suppression. The patient's clinical presentation and laboratory investigations confirmed the diagnosis of secondary adrenal insufficiency and iatrogenic Cushing's syndrome. He was treated successfully by discontinuing use of clobetasol. His appearance and growth returned to normal within two months. Morning cortisol was 101.2ng/ml after stopping the oral physiologic dose of hydrocortisone. Our case differed from other reports of iatrogenic Cushing's syndrome by presenting in poor weight gain rather than obesity

Congenital anomalies in infant with congenital hypothyroidism

Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran. The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinic of Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant's first year of life. A total of 150 infants with biochemically confirmed primary congenital hypothyroidism [72 females and 78 males] were recruited during the period between May 2006-2010. Overall, 30 [20%] infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants [3.1%] had congenital cardiac anomalies such as: ASD [n=3], VSD [n=2], PS [n =1], PDA [n=1]. Three children [2.6%] had developmental displasia of the hip [n=3]. The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies

Efficacy of thrice-daily versus twice-daily insulin regimens on glycohemoglobin [HB A1c] in type 1 diabetes mellitus: a randomized controlled trial

To improve glycemic control and prevent late complications, the patient and diabetes team need to adjust insulin therapy. The aim of this study is to evaluate the efficacy of thrice-daily versus twice-daily insulin regimens on HbAlc for type 1 diabetes mellitus by a randomized controlled trial in Hamedan, west of Iran, The study included 125 patients under 19 years of age with type 1 diabetes mellitus over a 3- month period. All patients with glycohemoglobin [HbAlc] >/= 8% were followed prospectively and randomized into two trial and control groups The control group received conventional two insulin injections per day: a mixture of short-acting [regular] + intermediated acting [NPH] insulins pre-breakfast [twice daily], and the trial group was treated by an extra dose of regular insulin before lunch [three times daily]. Main outcome measure was HbAlc at baseline and at the end of 3 months. The mean blood glucose level and number of hypoglycemia were recorded. All patients underwent monthly intervals follow up for assessing their home blood glucose records and insulin adjustment. Overall, 100 patients completed the study protocol 52% were females, mean +/- SD of age of 12.91 +/- 3.9 years. There were no significant differences in baseline characteristics including age, gender, pubertal stage, adherence to diet, duration of disease and total daily insulin dose [p>0. 05]. There was a significant decrease individually in both groups in HbAlc level [p<0.05], but there was no significant difference in HbAlc reduction in patients on twice-daily insulin injections and those on thrice-daily insulin injection groups [1.12 +/- 2.12 and 0.98 +/- 2.1% respectively, [p>0.05]. Compared with twice daily insulin, a therapeutic regimen involving the addition of one dose regular insulin before lunch caused no significant change in the overall glycemic control of patients with type 1 diabetes mellitus. Our results emphasize that further efforts for near normoglycemia should be focused upon education of patients in terms of frequent outpatient visits, more blood glucose monitoring and attention to insulin adjustments

Premature loss of permanent teeth in Allgrove [4A] syndrome in two related families

Allgrove syndrome is a rare autosomal recessive condition characterized by adrenal insufficiency, achalasia, alacrima and occasionally autonomic disturbances. Mutations in the AAAS gene, on chromosome 12q13 have been implicated as a cause of this disorder. We present various manifestations of this syndrome in two related families each with two affected siblings in which several members had symptoms including reduced tear production, mild developmental delay, achalasia, neurological disturbances and also premature loss of permanent teeth in two of them. The importance of this report is dental involvement [loss of permanent teeth] in Allgrove syndrome that has not been reported in literature

Frequency of ketoacidosis in newly diagnosed type 1 diabetic children

Diabetic ketoacidosis [DKA] is the leading cause of morbidity and mortality in children with type 1 diabetes mellitus [TIDM]. Many patients with newly diagnosed type 1 diabetes present with DKA. The aim of this study is to determine the frequency and the clinical presentation of diabetic ketoacidosis at the diagnosis of type 1 diabetes mellitus in youths in hamadan, Western Province of Iran. The Clinical and laboratory data of a total of 200 patients under 19 years of age with newly diagnosed type 1 diabetes mellitus between 1995-2005 were retrospectively reviewed. Statistical analysis was performed using SPSS 11. 48 [24%]of the children were presented in a state of ketoacidosis. Sever form of DKA [pH

[ frequency of hypoparathyroidism in patients with beta-thalassemia in Hamadan-Iran]

The thalassemic syndromes are geneticaly structural disturbance of alpha and beta globin chains. In major beta -thalassemia the life expectancy depended on frequent blood transfusions that lead to over storage and deposition of Iron in different body-organs [Hemochromatosis] including parathyroid glands, which may cause hupoparathyroidism. This study was done to evaluate the frequency of hypoparathyroidism in thalassemic patients referred to teaching hospitals in Hamedan - Iran. This descriptive, cross-sectional study was done on 56 thalassemic patients, which received blood transfusion. Serum Ca, P, PTH, total protein, albumin, Ferritin and BUN cratinine were checked two weeks after last transfusion. The hypoparathyroidism was defined when calcium was less than 8mg/dl and phosphorus more than 5.5mg/dl and PTH less than 10ng/dl. In this study, 14.2% of patients had hypoparathyroidism. 37.5% of hypoparathyroid ones had clinical manifestation of hypocalcemia. There were statistically meaningful association [P < 0.05] between The hypoparathyroidism with desferal administration, splenectomy and diabetes. This study showed that the frequency of hypoparathyroidism in Beta-thalassemic patients receiving blood transfusion was relatively high, so clinical and labratory evaluation for endocrine glands specially parathyroid is recommended since early second decay of life

Frequency of microalbuminuria in type 1 diabetic children

Diabetic nephropathy is a serious complication of type 1 diabetes which involves one third of the patients. The aim of this study was to estimate the frequency of microalbuminuria in type 1 diabetic patients visited in Pediatric Endocrine Clinic in Hamedan, west province of Iran, in 2007. Diabetic patients visited in Pediatric Diabetes Clinic were enrolled in the study. Variable data such as age, sex, duration of the disease, stage of puberty, dose of insulin/kg/day, and blood pressure of the patients were obtained according to history and physical examination. 24h urine samples were collected for protein, creatinine, and microalbumin. Data analysis was assessed using independent t-test and chi-square test. One-hundred five patients [56 females and 49 males] with a mean age of 13.3 +/- 5.5 years, were evaluated. Fifteen [14.3%] cases had microalbuminuria. Mean age in microalbuminuric group was 16.2 +/- 2.8, in non-microalbuminuric group 12.7 +/- 5.6 years [P=0.024]. Mean duration of diabetes was 9.1 +/- 3.2 yr in microalbuminuric and 4.5 +/- 3.9 in non-microalbuminuric group. There was a significant correlation between duration of diabetes and microalbuminuria [P<0.001]. Blood pressure was normal in 95.5% of the patients while in patients with microalbuminuria 73.3% had hypertension [P<0.001]. Frequency of microalbuminuria was higher in patients taking lower doses of insulin corrected to their body weight [P=0.008]. Frequency of microalbuminuria was significant, so regular screening is highly recommended for early detection and timely treatment of diabetic nephropathy in order to prevent progression to end stage renal disease

Auditory evaluation of high risk newborns by automated auditory brain stem response

The objective of this study was to assess the prevalence of hearing impairment by automated auditory brain stem response [AABR] in newborns admitted to an intensive and intermediate care unit and to analyze the associated risk factors. An observational cross-sectional study was conducted between January 2005 and January 2006. 834 newborns [62% boys and 38% girls] were assessed. Newborns had a mean [SD] gestational age of 36 [2.1] weeks with a mean [SD] birth weight of 2950 [1250] grams. The presence of the following neonatal pathologies was investigated: craniofacial malformations, hyperbilirubinemia [total bilirubin 20 mg/dl for all newborns], neonatal asphyxia, congenital infections, septicemia, birth weight [