A Case of Atypical McCune-Albright Syndrome with Vaginal Bleeding

Background

McCune-Albright syndrome (MAS) is a rare non-inherited disorder characterized by the clinical triad of precocious puberty, cafe-au-lait skin lesions, and fibrous dysplasia of bone.

Case Presentation

We report a girl with MAS, presenting initially with vaginal bleeding at the age of 17 months. Ultrasonography revealed unilateral ovarian cysts and ureteral and ovarian enlargement. Considering the clinical and paraclinical findings, the patient diagnosed as a case of gonadotropin-independent precocious puberty was treated with medroxy-progestrone acetate (MPA) for three months. During the follow up, recurrent episodes of bleeding, ovarian activation and cyst formation, as well as breast size development were reported. At the age of 5.5 years, fibrous dysplasia was detected, which in coexistence with precocious puberty confirmed the diagnosis of MAS. The patient had no cafe-au-lait skin macles during follow up.

Conclusion

Considering that clinical manifestations of MAS appear later in the course of recurrent periods of ovarian activation and cyst formation, a careful clinical observation and follow up of patients is necessary and the diagnosis of MAS must be kept in mind in cases with gonadotropin-independent precocious puberty.     

Pubertal Characteristics in Girls of Qazvin Province,Iran

Objective

Puberty is a critical time between childhood and adulthood. Many studies have reported that the mean age of breast development is decreasing. The aim of this study was to provide updated data on the pubertal development of girls and to evaluate precocious puberty in our population.

Methods

This cross sectional study was conducted in 6 to 16 year old school girls during 2009-2010 in Qazvin. 2240 healthy girls from all geographical regions with every socioeconomic status were selected by a stratified multistage cluster design to obtain representative sample of population. A questionnaire including demographic data, anthropometric measurements, secondary sexual characteristics, menarche status and its onset was filled out for every participant. Secondary sexual characteristics including breast development (B_1–5) and pubic hair (PH_1–5) were evaluated according to Marshal and Tanner recommendation.

Findings

The mean±SD of height, weight, and BMI of participants was 139.7±14.5, 36.1±12.9 and 17.9±3.7 respectively. The mean age (10th – 90th percentile) of B₂ and PH₂ were 9.71(7.67–11.4) and 9.82 years (7.84–11.42) respectively. Mean age of menstruation was 12.52 years. The mean BMI was significantly higher in pubertal females comparing to prepubertal girls (P<0.001). Average duration of puberty (the time from initiation of puberty to menarche) was 2.81 years.

Conclusion

The mean age of pubertal onset in girls living in Qazvin is 9.71 years. Menarche occurs at mean age of 12.52 and onset of puberty earlier than 6.24 years will be precocious. We found that girls in Qazvin had a slightly earlier age of initiation of puberty and of menarche in comparison with other studies in Iran.     

Assessment of Pubertal Development in Iranian Girls

Objective

We estimated pubertal development of 7,493 normal Iranian girls aged 6 to 20 years in a cross-sectional study.

Methods

Pubertal stages were assessed according to Tanner. The mean ages to achieve secondary sexual characteristics as well as the mean age at menarche were estimated. Weight and height were measured and body mass index (BMI) was calculated. Reference curves for different breast stages and menarche were constructed. The percentiles for attaining each stage were compared to data proposed by Tanner.

Findings

The mean age at breast bud stage (B2) was 10.10, pubic hair stage (P2) was 9.83, and menarche age was 12.55 years. The anthropometric variables were interpreted in different maturity stages. The mean age at attainment of puberty was compared with those of other populations.

Conclusion

Not only the onset of puberty in Iranian girls but also the duration of puberty is similar to data from most other countries. A lower age limit for the definition of precocious puberty than the traditional 8 years is documented for Iranian girls. However, it should be noted that considering the rate of evolution of pubertal findings is more important than the age of their appearance.     

Reliability of Pubertal Self Assessment Method: An Iranian Study

Objective

This investigation aims to evaluate the validity of a Persian Tanner Stages Self-Assessment Questionnaire.

Methods

In this cross sectional study, 190 male students aged 8-16 years selected from three layers of different regions of Tehran (North, Central and South) were enrolled. A Persian questionnaire illustrated with Tanner stages of puberty (genital development and pubic hair distribution) was prepared. Children were asked to select the illustration that best described their pubertal development. Tanner status of the children was also estimated by an independent physician using physical examination. The degree of agreement between subjects’ judgments with assessments made by the rater was compared through the calculation of the weighted kappa statistic coefficient.

Findings

We found a substantial agreement between self-assessment of pubertal development made by the children and doctor''s assessment of genital development (kappa=0.63, P<0.0001) and also the pubic hair distribution (kappa= 0.74, P<0.0001). Although a large proportion of subjects in G4 (89.2%) and G5 (85.7%) were capable of accurately or almost accurately identifying their own Tanner sexual stages, some degree of disagreement was observed in G3 Tanner stage (%46.9).

Conclusion

Self-assessment of puberty should be used very cautiously and may not be a substitute method for routine evaluation of pubertal state especially for early and mid pubertal groups.     

Adiponectin is a Good Marker for Metabolic State among Type 1 Diabetes Mellitus Patients

Objective

Adiponectin is secreted from adipose tissue. This hormone has a fundamental role in pathogenesis of insulin resistance, and has anti-inflammatory and anti-atherogenic effects. The objectives of this study were to compare serum adiponectin level between type 1 diabetics and healthy people and to assess its related factors, and also to determine the relationship between adiponectin and metabolic state.

Methods

This was a case control study involving 60 diabetics (25 good and 35 poor metabolic controlled) and 28 healthy persons (younger than 18 years old). The data about demographic (age and sex), clinical and paraclinical characteristics [body mass index (BMI), duration of disease, puberty state, and glycosylated hemoglobin (HbA1c) and adiponectin level in serum] were collected. Determinants of adiponectin were assessed using univariate and multiple linear regression analyses.

Findings

Mean (±SD) serum adiponectin level in healthy persons, good-controlled and poor-controlled type 1 diabetes mellitus patients were 9.16 (±4.2) µg/cc, 10.89 (±4.48)µg/cc, and 15.92 (±8.26)µg/cc, respectively. Post hoc analysis revealed that differences of adiponectin between poor- and good-controlled type 1 diabetes mellitus patients (P=0.01) and between healthy persons and poor controlled type 1 diabetes mellitus (P<0.0001) were statistically significant. Adiponectin level was associated with puberty state and BMI in healthy persons. It was associated with puberty state and HbA1c in type 1 diabetic persons.

Conclusion

Serum level of adiponectin was higher in type 1 diabetics than in healthy persons and it can be used as a good marker for metabolic control state among diabetics.     

Female Sex as a Risk Factor for Glycemic Control and Complications in Iranian Patients with Type One Diabetes Mellitus

Objective

The aim of this study was to evaluate the influence of sex on glycemic control, diabetes complications and associated abnormalities in patients with type one diabetes mellitus.

Methods

In a cross-sectional study in 309 patients (156 females and 153 males within the age range of 3-16 years) with type one diabetes mellitus referred to endocrinology clinic in Children''s Medical Center in Tehran from March 2005 to March 2007 gender differences in diabetes control were analyzed.

Findings

Mean glycosylated hemoglobin (HbA1c), was significantly higher in females (9.25 vs. 8.01). Insulin dose per kilogram of body weight was significantly more in girls (0.91±0.31 vs. 0.74±0.37, P<0.001) self monitoring of blood glucose was performed significantly more in boys. Frequency of Diabetic ketoacidosis, height growth problems and dyslipidemia were significantly higher in girls. 1.20±0.86 vs. 0.93±0.55, P=0.004), (−0.05±1.20 vs. −0.41±1.17, P=0.015), (134.60±44.43 vs. 110.56±20.72, P=<0.001) respectively.

Conclusion

Female sex is a risk factor in glycemic control and complications of diabetes type I and females should be managed more seriously regarding self monitoring of blood glucose, nutritional and psychological factors and puberty issues.     

Cholelithiasis in Childhood: A Cohort Study in North of Iran

Objective

Cholelithiasis rarely occurs in children but the increased use of ultrasonography has led to increased detection of gallstones in patients. The epidemiology and predisposing factors of cholelithiasis vary in different populations. The aim of this study was to describe the clinical presentation, predisposing factors and to evaluate management and outcome of patients referred to Amirkola Children''s Hospital jn Babol.

Methods

This cohort study was performed on children with cholelithiasis referred during 2000 to 2011. Cholelithiasis was diagnosed with ultrasonography. The data was obtained based on history, physical exam, clinical and paraclinical investigations and analyzed by SPSS version 18. P-value <0.05 was considered being significant.

Findings

From the 66 patients with cholelithiasis, 39 (59.1%) were males. The mean age at diagnosis was 6.6±4.5 years. The most common predisposing factor included ceftriaxone therapy (27.3%), hemolytic diseases (13.6%), hepatobiliary diseases (7.5%) and cystic fibrosis (7.5%). In 30.3% of patients, no predisposing factor was detected. The most common complaint was abdominal pain (67%). Among the patients in whom abdominal X-Ray was performed, only 20% had radiopaque gallstones; 6 (9%) patients underwent cholecystectomy.

Conclusion

According to this study, ceftriaxone therapy and hemolytic diseases were the most common predisposing factors in children with cholelithiasis in our area and cholecystectomy had not been needed in most patients.     

Incidence of Childhood Cancers in Golestan Province of Iran

Objective

This paper presents the incidence rates of childhood cancers using the data obtained from Golestan population based cancer registry (GPCR) between 2004 and 2006.

Methods

GPCR registers only primary cancers based on standard protocols of the international association of cancer registries (IACR). We collect data on newly diagnosed (incident) cancer cases from all public and private diagnostic and therapeutic centers of the whole province. CanReg-4 software was used for data entry and analysis.

Findings

Totally 5076 cancer cases (all ages) were diagnosed in GPCR between 2004 and 2006. Of these, 139 (2.74 %) were children (aged 0–14 years) with mean (±SD) age of 8.06 (±4.48) years. The age standardized incidence rates for childhood cancer were 119.8 and 78.3 per 1000000 person-years in male and female children, respectively. Leukemia was the most common childhood cancer in Golestan province of Iran. Lymphomas and central nervous system tumors were the second and third ones, respectively.

Conclusion

The incidence rates of childhood cancers were relatively high in Golestan province of Iran. So, controlling of childhood cancers should be mentioned as an important issue in health policy making in this area.     

Red Flags of Organic Recurrent Abdominal Pain in Children: Study on 100 Subjects

Objective

A variety of sign, symptoms and laboratory findings are more common in children with organic abdominal pains. This study was performed to evaluate the prevalence of organic and functional abdominal pains and relation of red flags to organic pains in 100 children with recurrent abdominal pain (RAP).

Methods

One hundred consecutive patients with RAP were enrolled in the study. A complete interview and physical examination was made for each patient, accompanied by a series of laboratory, clinical and para-clinical examinations. The data were recorded and analyzed. Logistic regression analysis was used to model and formulize correlations between sign, symptoms, and laboratory findings with organic and functional abdominal pain.

Findings

Among 100 patients (52% male, 48% female, Age: 9.29±3.17) diagnostic works up revealed organic pain for 57 patients. The most common symptoms of the patients included constipation, diarrhea, chest pain, cough, headache, vomiting, hematuria, and dysuria. Fecal incontinence, delayed puberty, organomegaly, jaundice, and family history of inflammatory bowel disease were reported in none of the patients with RAP. Fever, pain not located in periumbilical area, nocturnal pain, elevated erythrocyte sedimentation rate, weight loss, growth disorder, and abdominal tenderness were among the red flags which revealed diagnosis of organic pain in this study.

Conclusion

A series of red flags could increase likelihood of finding organic pain in children with RAP.     

Clinical Findings of Functional and Secondary Constipation in Children

Objective

We aimed to evaluate clinical features and follow-up data of children with functional and secondary constipation.

Methods

Hospital records of 335 constipated children were evaluated. Children were divided into 2 groups as functional and secondary, and were compared with regard to clinical and anthropometric data.

Findings

Of 335 children (M/F 167/168, mean age 4.3±3.5 years) 91% had functional constipation (group 1). Family history of constipation was significantly higher in group 1. Malnutrition was found in 18% of group 1, 56% in group 2 (p < 0.001).

Conclusion

If a constipated child has a family history of constipation but does not have failure to thrive and constipation begins at an older age, functional constipation is more probable.     

Study on Efficacy of Hepatitis B Immunization in Vaccinated Beta-thalassemia Children in Tehran

Objective

In thalassemic children, HBV infection is common, thus immunization against HBV will reduce and prevent the rate of infection. The aim of this study was to evaluate the efficacy of HBV immunization and the prevalence of HBV infection in beta-thalassemic children in Tehran.

Methods

To assess the efficacy of immunization and determine the immune response of children with beta-thalassemia, sera of 99 children who had received three doses (10/20 µg) of recombinant HBV vaccine in months 0, 1, 6, were selected and tested for HBsAg, HBsAb and anti-HBc by ELISA method. Also, these sera were tested for HBV DNA using nested-PCR method.

Findings

In 99 beta-thalassemic children, 89 (89.9 %) were anti-HBs positive (responders) and 10 (10.1%) anti-HBs negative (non-responders). 3 (3.03%) were anti-HBc positive and 1(1.01%) was HBsAg positive. HBV DNA was not detected in any of them.

Conclusion

Our results have revealed that hepatitis B vaccine is highly immunogenic for thalassemic children and particularly well tolerated.     

Cardiac Repolarization Changes in the Children with Breath-Holding Spells

Objective

Breath-holding spells are known as benign attacks, frequencies of which decrease by the development of the autonomic nervous system. The present study aims to compare the electrocardiographic repolarization in children with breath-holding spells.

Methods

In this study, QT dispersion, QTc dispersion, T peak to T end dispersion, and P wave dispersion of the twelve-lead surface electrocardiography of fifty children who had breath-holding spells were measured and compared with normal children from April 2011 to August 2012.

Findings

Forty-four (88%) patients had cyanotic spells, while 6 (12%) had pallid spells. QTc dispersion was increased in the patients with breath-holding spells (148.2±33.1) compared to the healthy children (132±27.3) and the difference was statically significant (P = 0.01). Meanwhile, no statistically significant differences were observed between the patients and the control subjects regarding the other parameters (P > 0.05).

Conclusion

QTc dispersion was significantly increased in the patients with breath-holding spells compared to normal children and this is a sign of cardiac repolarization abnormality as well as the increased risk of cardiac arrhythmia in patients with breath-holding spells.     

Prevalence of Asthma in Children of Chemical Warfare Victims

Objective

Exposure of DNA to sulfur mustard gas may increase the inheritance of asthma in chemical warfare victims'' (CWV) offspring. The objective of this study was to determine the prevalence of asthma in children of CWV and compare it to asthmatic children in the general population.

Methods

Four hundred and nine children from 130 CWV fathers and 440 children from 145 asthmatic parents from two cities in Iran participated in this study. The prevalence of asthma was determined by standard questionnaire released for epidemiological survey of asthma in children and compared between two groups.

Findings

The prevalence of asthma in the CWV group was 15%; this was not significantly different from the control group (12.5%). The children of the CWV group reported a significantly greater incidence of wheezing (1.2±3.1 attacks) per year, but the control group reported more severe attacks leading to speech difficulties (3%) and coughing (7%). Regression analysis showed that with increasing family size in the control group, the number of subjects suffering from asthmatic symptoms decreases significantly (r=0.86, P=0.001).

Conclusion

Chemical agents may increase the prevalence of asthma in the offspring of CWV.     

T-Peak to T-End Abnormality in Pediatric Patients with Syncope

Objective

The purpose of this study was to examine the relationship between T-peak-to-T-end interval and its dispersion in children with syncope to detect possible repolarization abnormalities in these patients.

Methods

We enrolled 19 patients with a positive tilt test for syncope (7 boys, 12 girls) and 35 participants with normal results on the test.

Findings

Mean age was 11.4±3.1 years in patients and 10.0±5.1 years in controls (P =0.27). The T-peak-to-T-end interval in lead V1 was significantly longer in patients with a positive tilt test (0.36±0.062 vs. 0.32±0.071, P=0.007). T-peak-to-T-end interval dispersion was significantly greater in the group of patients (0.15±0.07 vs. 0.11±0.04, P±0.003).

Conclusion

The T-peak-to-T-end interval in lead V1 and T-peak-to-T-end dispersion were significantly larger in patients with a positive tilt test. Our findings suggest a depolarization abnormality in children with syncope.     

Zinc and Copper Status in Children with Beta-Thalassemia Major

Objective

There are some reports in which a condition of zinc deficiency and its associated outcomes with a change in concentration of serum copper among the thalassemic patients has been highlighted. The aim of this prospective study was to determine the serum zinc and copper levels in children with beta-thalassemia major.

Methods

In this cross sectional study all children under 12 years affected by beta thalassemia major (40 patients) were evaluated for serum zinc and copper levels in Qazvin thalassemia center (Qazvin, Iran) in 2007. Serum measurements for zinc and copper were performed by atomic absorption spectrophotometer.

Findings

The mean concentrations of serum zinc and copper levels were 67.35±20.38 and 152.42±24.17 µg/dl respectively. Twenty-six (65%) of thalassemic patients had zinc concentration under 70 µg/dl (hypozincemia). None of the thalassemic children had copper deficiency. No significant correlation between serum zinc level with age, weight, height, body mass index, duration of blood transfusion, desferrioxamine dose and ferritin level was observed in thalassemic patients (P=0.3).

Conclusion

This study revealed that hypozincemia is common in thalassemic patients, but in contrast, there is no copper deficiency. Further evaluation in this regard is recommended.     

Clinical Trial of Vigabatrin as Adjunctive Therapy in Children with Refractory Epilepsy

Objective

Approximately one-third of all children with epilepsy do not achieve complete seizure improvement. This study evaluated the efficacy of Vigabatrin in children with intractable epilepsy.

Methods

From November 2011 to October 2012, 73 children with refractory epilepsy (failure of seizure control with the use of two or more anticonvulsant drugs) who were referred to the Children’s Medical Center and Mofid Children’s Hospital were included in the study. The patients were treated with Vigabatrin in addition to their previous medication, and followed-up after three to four weeks to determine the daily frequency, severity, and duration of seizures in addition to any reported side effects.

Findings

Of the 67 children, 41 (61.2%) were males and 26 (38.8%) females, their age ranging from three months to 13 years with an average of 3.1 [standard deviation (SD), 2.6] years. The mean daily frequency of seizures at baseline was 6.61 (SD, 5.9) seizures per day. Vigabatrin reduced the seizure frequency ≤2.9 (SD, 5.2) (56% decline) and 3.0 (SD, 5.3) (54.5% decline) per day after three and six months of treatment, respectively. A significant difference was observed between seizure frequencies at three (P<0.001) and six months (P<0.001) after Vigabatrin initiation compared with the baseline. Somnolence [3 (4.5%)], horse laugh [1 (1.5%)], urinary stones [1 (1.5%)], increased appetite [1 (1.5%)], and abnormal electroretinographic pattern [3 (4.5%)] were the most common side effects in our patients.

Conclusion

This study confirms the short-term efficacy and safety of Vigabatrin in children with refractory epilepsies.     

Efficacy of Chloral Hydrate and Promethazine for Sedation during Electroencephalography in Children; a Randomised Clinical Trial

Objective

The purpose of this study was to compare efficacy and safety of oral chloral hydrate (CH) and promethazine (PZ) for sedation during electroencephalography (EEG) in children.

Methods

In a parallel single-blinded randomized clinical trial, sixty 1-10 year old children referred to EEG Unit of Shahid Sadoughi Hospital from January 2010 to February 2011 in Yazd, Iran, were evaluated. They were randomized to receive orally 70 mg/kg chloral hydrate or promethazine 1 mg/kg. The primary outcome was efficacy in adequate sedation and successful recording of EEG. Secondary outcome included clinical side effects, time from administration of the drug to adequate sedation, caregiver''s satisfaction on a Likert scale, and total stay time in EEG Unit.

Findings

Twenty four cases with mean age 2.9±1.9 years were evaluated. Adequate sedation (Ramsay sedation score of four) was obtained in 43.3% of PZ and 100% of CH group (P=0.00001). Also in 70% of PZ and 96.7% of CH group, EEG was successfully recorded (P=0.006). So, CH was a more effective drug. In CH group, EEG was performed in shorter time after taking the drug (32.82±9.6 vs 52.14±22.88 minutes, P<0.001) and the parents waited less in the EEG unit (1.29±0.54 vs 2.6±0.59 hours, P<0.001). They were also more satisfied (4.6±0.6 scores vs 3.1±1.4 scores, P=0.001). Mild side effects such as vomiting in 20% of CH (n = 6) and agitation in 6.6% of PZ group (n = 2) were seen. No significant difference was seen from viewpoint of side effects frequency between the two drugs.

Conclusion

The results of the present study showed that chloral hydrate can be considered as a safe and more effective drug in sedation induction for sleep EEG in children.