Background: Congenital hypothyroidism (CH), as one of the most common Congenital endocrine disorders, may be significantly associated with Congenital malformations. This study investigates urogenital abnormalities in children with primary CH (PCH). Methods: This case-control study was conducted on 200 children aged three months to 1 year, referred to Amir-Kabir Hospital, Arak, Iran. One hundred children with PCH, as the case group, and 100 healthy children, as the control group, were selected using convenient sampling. For all children, demographic data checklists were filled, and physical examination, abdomen and pelvic ultrasound and other diagnostic measures (if necessary) were performed to evaluate the Congenital urogenital abnormalities including anomalies of the penis and urethra, and disorders and anomalies of the scrotal contents. Results: Among 92 (100%) urogenital anomalies diagnosed, highest frequencies with 37 (40. 2%), 26(28. 2%) and 9 (9. 7%) cases including hypospadias, Cryptorchidism, and hydrocele, respectively. The frequency of urogenital abnormalities among 32 children with PCH, with 52 cases (56. 5%) was significantly higher than the frequency of abnormalities among the 21 children in the control group, with 40 cases (43. 4%). (OR=2. 04; 95%CI: 1. 1-3. 6; p=0. 014). Conclusion: Our study demonstrated that PCH is significantly associated with the Congenital urogenital abnormalities. However, due to the lack of evidence in this area, further studies are recommended to determine the necessity of conducting screening programs for abnormalities of the urogenital system in children with CH at birth.

Congenital absence of the nose or arhinia is a rare defect of embryogenesis often associated with other anomalies. Arhinia is a life-threatening condition that requires a highly skilled neonatal resuscitation team in the delivery room. The associated anomalies often have a significant effect on the immediate as well as long-term outcome of the neonate. This report presents a case of Congenital arhinia and reviews the management of such cases.

BACKGROUND: Congenital hypothyroidism (CH) often seems to be associated with other Congenital abnormalities, mostly cardiac in nature. The aim of this study was to determine the prevalence of cardiac malformations in patients with CH diagnosed during CH screening program in Isfahan. METHODS: In this cross-sectional study, cardiac malformations were determined in CH patients were compared to controls using echocardiography. The association between cardiac malformations and mean T4 and TSH concentrations, etiology of CH according to radiologic findings and permanent and transient CH were studied in CH patients. RESULTS: Overall, 96 and 59 subjects were included in the case and control groups, respectively. Cardiac malformations were present in 30.2% (n = 29) and 15.2% (n = 9) of case and control groups, respectively; i.e. a higher prevalence in CH patients than in controls (P = 0.03). The prevalence of cardiac malformations without patent foramen oval was 6.25% (n = 6) in CH patients and 1.7% (n = 1) in control group (P = 0.1). There was no significant association between the presence of cardiac malformations and the aforementioned variables. CONCLUSIONS: High prevalence of cardiac malformations in CH patients strongly suggests the potential involvement of genetic factors in the pathogenesis of CH. This emphasizes on the necessity of genetic studies involving CH patients.  

Congenital nasolacrimal obstruction is a common disease that leads to tearing and mucoid discharge. Congenital nasolacrimal obstruction occurs in about 20% of children under one year of age. Most of these cases improve spontaneously, but sometimes the obstruction persists. Spontaneous improvement in the first year is high. Treatments include conservative therapy, probing and irrigation, inferior turbinate fracture, balloon dacryocystoplasty, endoscopic, or external dacryocystorhinostomy. The purpose of this article is to review the literature on the treatment of Congenital nasolacrimal obstruction.

Introduction: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by any of the enzymatic steps required to synthesize adrenal hormones. Depending on the enzymatic step that is deficient, there may be clinical and laboratory finding. The aim was to evaluate. The epidemiology and clinical finding of CAH.Material and Methods: The clinical and laboratory characteristics of 68 patients with CAH who were managed in the pediatric Endocrinology unit of Imam Reza Hospital during 7 years were recorded in this study the clinical and, epidemiological characteristics of Congenital adrenal hyperplasia were evaluated in 68 patients admitted Imam Reza Hospital in Mashed, also on patient has been followed in endocrine and metabolism pediatric clinic in this time, during 6 years retrospectively and 1 year prospectively.Results: Parental consanguinity rate among families of patients was higher than the general population in Mashad (73.8% vs 30%). In 44.6% of patients the history of disease was positive in sibling. 52.2% of patients were males and 47.8% females. 21- Hydroxylase deficiency was present in 60 patients (88.2%), salt -losing form in 40(66.7%) and simple virilizing form in 20 (33.3%) of them. 11- β hydroxylase deficiency was presents (10.3%). Also one case of 3- β OHSD was reported.The median chronological age at diagnsis in sall- losing form was 75 and 85 days in boys and girls; in simple - virilizing form were 46 and 43 months in boys and girls. 14 of girls were considered to be male before diagnosis was established.Conclusion: This study underscores the necessity for prospective neonatal screening, so that the benefits of early diagnosis and treatment can be realized.In addition the incidence of CAH is expected to be high due to a high rate of consanguinity in our population, here genetic counseling before marriage is beneficial in our population.

A 15-month-old boy was referred to the Oculo-plastic Clinic at Labbafinejad Medical Center for treatment of a bulging and deformed blind left eye. He was the result of a normal full-term pregnancy and there had been no ocular dis-charge at birth. Examination of the left eye re-vealed a keratinized and ectatic cornea bulging 9 mm anteriorly (Fig. 1). The right eye had a chorioretinal coloboma. Due to severe defor-mity of the blind eye, we considered enuclea-tion to be the most appropriate treatment.

Diagnosis of tuberculosis in neonates could be challenging, as the signs and symptoms are nonspecific and could be present in other conditions such as toxoplasmosis, rubella, cytomegal virus, herpes simplex (TORCH), sepsis and prematurity. The most common presentation is hepatosplenomegaly, respiratory distress, fever, and lymphadenopathy (1, 2)….

Background: Congenital hypothyroidism (CH) is a prevalent disorder, which is associated with several other Congenital anomalies, especially cardiac diseases. The present study aimed to determine the prevalence of Congenital heart disease (CHD) in the neonates with CH. Methods: This cross-sectional study was conducted on two groups of 79 subjects to compare the type and frequency of Congenital cardiac anomalies between the neonates with the confirmed diagnosis of CH (TSH≥ 10 mlU/ml) and healthy infants. The study was performed in Kowsar Clinic affiliated to Arak University of Medical Sciences, Iran. Level of thyroid-stimulating hormone (TSH) was measured within days 3-7 of birth using the samples collected from the soles of the neonates. In addition, all the subjects were evaluated for the presence of CHD using echocardiography before day 30 of life. Results: In total, 79 neonates were enrolled in the study. The case group consisted of 34 females (43. 04%) and 45 males (53. 96%), and the control group consisted of 43 females (54. 43%) and 36 males (45. 57%). The groups were matched in terms of age and gender. Cardiac involvement was only detected in the case group (CH infants) with the prevalence of 22. 7%. Among the non-cyanotic malformations observed in the case group, one infant had ventricular septal defect (1. 3%), eight infants had atrial septal defect (10. 1%), three infants had patent ductus arteriosus (3. 8%), three neonates had endocardial cushion defect (3. 8%), two neonates had pulmonary stenosis (2. 5%), and one infant had dilated cardiomyopathy (1. 3%). Moreover, six neonates were diagnosed with Down syndrome. All the infants with endocardial cushion defect (n=3) had Down syndrome, and no significant association was observed between TSH and thyroxine (T4) in the presence of CHD. Conclusion: According to the results, the high prevalence of cardiac malformations in the neonates with CH necessitated cardiac examinations using echocardiography.

Background: Cataract is the commonest cause of childhood blindness in sub Saharan Africa (SSA). The signifi cance of Congenital rubella and human cytomegalovirus (HCMV) infection in the etiology is not known. Objectives: We aimed to investigate prevalence of both viruses in cases of Congenital cataract and controls. Methods: Lens tissue was collected (from cases), blood and saliva from cases and controls. Using ELISA, we tested blood samples for rubella and cytomegalovirus IgM. Quantitative polymerase chain reaction (qPCR) was also used for detection of the viruses. Results: Cytomegalovirus was detected using qPCR in 72. 9% saliva specimens of cases compared to 38. 5% of controls (P = 0. 0001). Cytomegalovirus IgM was also detected in 10. 8% blood specimens of cases and only 1. 5% control (P = 0. 01). Rubella IgM was detected in 13. 8% blood specimens of cases and only 3. 1% controls (P = 0. 01). In lens aspirates of cases, 12. 7% were HCMV positive and 11. 1% were rubella positive by qPCR. Cases had lower birth weights (mean = 2. 8 kg) than controls (mean = 3. 2 kg), independent of viral status (P = 0. 004). Conclusions: Although most of the children in the study presented too late to be sure that infection was Congenital, our study strongly suggests that HCMV and rubella infection appear important causes of Congenital cataract in Tanzania hence virology testing of infantile cataract cases may be useful in assessing eff ectiveness of immunization programs as they are established throughout SSA.