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Background: Bisphosphonates are used as standard treatment in patients with osteogenesis imperfecta (OI) in childhood and adolescence. N-terminal collagen type I extension propeptide (PINP) has been identified as the most promising marker of bone formation. Aim and Objectives: Our study aimed to use PINP as a marker of bone formation in patients with OI receiving bisphosphonates treatment. Patients and Methods: This observational study included 28 with OI patients (12 boys & 16 girls) on bisphosphonates treatment following up at Pediatric Endocrinology Clinic, Ain Shams University Children's Hospital during the period from March 2021 till April 2022. PINP was measured at baseline and one year after treatment. Clinical severity score was evaluated. Results: (53.6%) of patients were classified as moderate degree of clinical severity score. Clinical severity score domains were as follows: (67.9%) of patients were classified as grade I regarding number of fractures per year (0-1), (50.0%) of patients were classified as grade II regarding motor milestones (delayed with catch up), (46.4%) of patients were classified as grade III regarding long bone deformities (noticed by both clinical examination and X-rays affecting isolated long bones) and regarding height SDS (-3.1 to -5.0), while (46.4%) of patients were classified as grade I regarding DXA Z-score (< -1.5 SD). PINP decreased <20% in 6 patients (21.4%) and increased <20% in 5 patients (17.9%). There was no change in 17 patients (60.7%). Furthermore, there was no significant relation between PINP and clinical severity score. Conclusion: PINP change in patients with OI on bisphosphonates treatment might not be pronounced or sustained after treatment, thus might not reflect the clinical status of the patients on short term basis. [ABSTRACT FROM AUTHOR]

Background: Intravenous zoledronate, has been indicated for the treatment of Osteogenesis imperfecta (OI). It is a heritable disorder that causes bone fragility. The purpose of this study was to evaluate its effect on functional mobility scale and scoliosis degree on children with OI. Methods and Results: This observational study was conducted on 28 OI patients (12 boys & 16 girls) aged 1.3-7.15 years. All parameters were evaluated at Pediatric Endocrinology clinic, Children's Hospital, Ain Shams University. Treatment was started with zoledronate dose 0.05 mg/kg every 6 months. Children less than 3 years of age received intravenous Zoledronate at a dose of 0.025 mg/kg per dose every 6 months with a maximum dose of 2 mg, while children above 3 years old received 0.05 mg/kg/dose every 6 months with a maximum dose of 4mg. FMS and scoliosis degree using cobb angle were evaluated before and after zoledronate therapy. Patients showed highly significant improvement in FMS. Patients with mild and moderate degree of scoliosis showed a non significant improvement in the degree of scoliosis while patients with severe scoliosis didn't show any statistically significant difference. Conclusion: Our study showed that intravenous zoledronate treatment, given once every 6 months, is an effective mode of treatment in OI children. It was associated with improvement in FMS. Longer follow-up is necessary to monitor the effect of treatment on degree of scoliosis by cobb angle. [ABSTRACT FROM AUTHOR]

Background: there is a controversy regarding the effect of vitamin D2 and D3 in elevating and sustaining 25-hydroxyvitamin D (25(OH)D) levels in pediatric patients. It has been suggested that vitamin D3 may be superior to vitamin D2 in raising and sustaining adequate 25(OH)D values. Aim: To study the difference between the effect of enteral vitamin D2 and vitamin D3 administration in raising and maintaining serum 25(OH)D in pediatric patients. Methods: Randomized controlled clinical trial, conducted in Pediatric Endocrinology Unit, Ain Shams University, Cairo, Egypt, where 60 participants who had vitamin D deficiency were recruited. Subjects were divided into two groups, 30 patients per group (group A received 2400 IU of oral vitamin D2 daily and group B received 2400 IU of oral vitamin D3 daily). History of sun exposure and dietary intake of calcium, assessment of anthropometric measures and Tanner staging, laboratory investigations were documented. Follow up of serum level of 25(OH)D was done every month for three consecutive months. Results: Oral vitamin D3 supplementation in group B patients resulted in significantly higher increments in 25(OH)D levels than that achieved by oral vitamin D2 supplementation in group A after 2nd, and 3rd months of the supplementation (P=0.000). Vitamin D3 supplementation resulted in a significantly greater increment in serum 25(OH)D levels from 1st to 2nd month and from 1st to 3rd month than Vitamin D2 supplementation (P=0.000). All participants in group B (100%) who received vitamin D3 reached sufficient levels (> 30 ng/ml) after 2 months while 76.7% of participants in group A who received vitamin D2 reached sufficient levels after 2 months and 23.3% of participants after 3 months (P= 0.017). Conclusion: Oral vitamin D3 supplementation was more effective in raising serum 25(OH)D status in pediatric patients than oral vitamin D2 supplementation. [ABSTRACT FROM AUTHOR]

Background: Adrenal rest tumours can appear in early childhood in patients with congenital adrenal hyperplasia(CAH). The common cause of infertility in males with CAH is testicular adrenal rest tumours (TARTs). Ovarian adrenal rest tumour (OART) and polycystic ovaries (PCO) can impair the ovarian function in female patients with CAH. Objective: Detect the prevalence of gonadal changes by imaging among patients with CAH and assess the patients' radiological findings in relation to their hormonal profile. Patients and Methods: This observational, cross sectional study was conducted on 50 patients with CAH. Testicular ultrasonography was done to male patients and magnetic resonanceimaging (MRI) of the pelvis was done to female patients. Data on prescribed glucocorticoid dose and serum levels of 17-hydroxyprogesterone (17-OHP), androstenedione (Andro) and ACTH were obtained from medical records within endocrinology clinic, Children's Hospital, Ain Shams University. Results: TARTs were detected in 10/20 (50%) of CAH patients. There was significant relation between presence of TARTs and each of weight standard deviation score (SDS), body mass index (BMI), BMI SDS and current bone age (p = 0.028, 0.046, 0.017 and 0.023; respectively). There was no significant relation between presence of TARTs and the laboratory parameters or the treatment received (p > 0.05). There was significant correlation between Tanner testicular volume and mean testicular volume by ultrasound (p < 0.001). Only one female patient had bilateral polycystic ovaries (prevalence 3.3%) and none had ovarian adrenal rest tumours. Conclusion: The prevalence of TARTs in male patients in our study is high (50%), highlighting the importance of TARTs screening in children with CAH. We would suggest that routine ovarian imaging in CAH females is not indicated. However, when ovarian dysfunction is present, ovarian imaging is advised. [ABSTRACT FROM AUTHOR]

Background: There is a controversy regarding the effect of vitamin D2 and D3 in elevating and sustaining 25(OH)D levels. Aim: This study will concentrate on the effect of parenteral administration of both vitamins on serum 25(OH)D levels. Methods: Randomized controlled clinical trial, conducted in Pediatric Endocrinology Unit, Ain Shams University, Cairo, Egypt, where 50 participants who had vitamin D deficiency were recruited. Subjects were divided into two groups, 25 patients per group (group A received a single dose of 200,000 IU of intramuscular vitamin D2 and group B received 200,000 IU of intramuscular vitamin D3). History of sun exposure and dietary intake of calcium, assessment of anthropometric measures and tanner staging, laboratory investigations were documented. Follow up of serum level of 25(OH)D was done every month for three consecutive months. Results: Parenteral vitamin D3 supplementation in group B patients resulted in significantly higher increments in 25(OH)D level than that achieved by parenteral vitamin D2 supplementation in group A after 1st, 2nd, and 3rd months of the supplement (p = 0.000). Vitamin D3 supplementation resulted in a significantly greater increment in serum 25(OH)D levels from 1st to 2nd month and from 1st to 3rd month than Vitamin D2 supplementation with a P value of 0.039 and 0.018 respectively. One hundred percent of group B participants who received vitamin D3 reached sufficient level (41.04 ± 10.04) after 1 month while 80% of participants in group A who received vitamin D2 reached a sufficient level after 1 month and 20% of participants after 2 months (P = 0.018). Conclusion: We can conclude that parenteral vitamin D3 supplementation was more effective in raising serum 25(OH)D status in pediatric patients than parenteral vitamin D2 supplementation. [ABSTRACT FROM AUTHOR]

Background: The final adult height of patients with congenital adrenal hyperplasia (CAH) is usually less than the target height (TH). This could be attributed to androgen excess or treatment with steroids. Androgen excess can occur at any age leading to accelerated growth, early epiphyseal closure and compromised final adult height (Webb and Krone, 2015), (Charmandari et al., 2004). Aim: evaluate growth and final height in children and adolescents with CAH. Methodology: This retrospective study was conducted on 36 patients diagnosed with CAH, data was collected from patients' records within endocrinology clinic, Children's Hospital, Ain Shams University. Result: Our patients had a mean final height and final height SDS of (161.68±6.48cm and -0.41) and (151.03±6.1cm and -0.67) for males and females respectively. Final adult height was less than target height (mean target heights were 168.8± 3.54 cm and 157.1± 6 cm for males and females respectively). The median target height in our study was 158.4cm and mean target height SDS corrected to mid-parental target height was -0.43 ± (1.26). The mean daily hydrocortisone was 15.67 (± 3.26 SD) mg/m2 per day with range (9.9 - 24) mg/m2. There was no correlation between final heights and the cumulative doses and mean daily doses of hydrocortisone. There was no correlation between final height SDS in both sexes and age of starting steroid therapy. The bone age of our patients was advanced on average by 2 years compared to chronological age at final height. Conclusion: the final height of CAH patients treated with glucocorticoids is lower than the population norms and is lower than what would be predicted based on parental height. [ABSTRACT FROM AUTHOR]

Background: Hashimoto thyroiditis (HT) is the most common cause of thyroid diseases in children and adolescents. Ventricular myocardial dysfunction associated with HT has been suggested to be related to the chronic inflammatory state associated with autoimmunity as well as to the endocrine effects. Objective: To evaluate using speckle tracking echocardiography (STE) and estimation of carotid intima-media thickness (CIMT) in early detection of myocardial dysfunction in children with Hashimoto thyroiditis. Patients and Methods: A cross-sectional case-control study was performed that included 15 patients with HT recruited from the pediatric endocrinology clinic, at Ain Shams University Hospital from October 2020 to July 2021. The patients were compared to 15 age and sex-matched healthy controls. Data were collected from patients' files including age at initial diagnosis, initial level of thyroid hormones, antithyroglobulin antibodies, and antithyroid peroxidase antibodies. Results: Mean age of enrolled patients was 13.20 ± 3.05 years. Cardiac functions in HT patients by using conventional Echocardiography and STE, both were correlated to thyroid hormones, auto-antibodies, lipid profile, and duration of disease (P < 0.05 for all). There were no statistically significant differences in conventional Echocardiographic parameters between patients and controls(P > 0.05 for all). Left ventricular global longitudinal strain (LVGLS) was within the normal range for both groups and showed no statistically significant differences between them (P > 0.05). Known HT patients had lower LVGLS mean (19.72 ± 1.22 %) than newly diagnosed patients (21.52 ± 0.99%, P = 0.014). There was no correlation between cardiac functions and the level of thyroid auto-antibodies (P > 0.05 for all). There was no statistically significant difference between patients and controls in CIMT (0.33 ± 0.05 vs 0.35± 0.05, P = 0.473). There was a positive correlation between the duration of disease and CIMT among patients (P-value= 0.025) Conclusion: Patients with HT may have subclinical myocardial dysfunction which could be attributed to the chronic inflammatory state even with normal thyroid functions. STE can early detect the myocardial dysfunction on initial examination and follow up. [ABSTRACT FROM AUTHOR]

Background: Disorders of sex development (DSD) comprise a wide range of conditions with varying features and pathophysiology that most often present in the newborn or the adolescent. Affected newborns are born with ambiguous genitalia, whereas adolescents present with atypical sexual development during the pubertal years. Aim of the Work: To study the clinical and biochemical profile of patients with 46, XY disorders of sex development. Patients and Methods: This was a descriptive study, conducted on 50 patients with 46, XY DSD attending the Pediatric Endocrinology clinic, Children's Hospital, Ain Shams University were recruited from April 2019 till April 2020. Results: In our study 88% of cases were reared as males, while 12% were reared as females. The mean age at diagnosis was 2.48 ± 1.33 years with a range of 1-7 years. Parental consanguinity was present in 28 (56.0%) patients and a positive family history in 10 (20.0%). Mean external masculinization score (EMS) in our study was 3.30 ± 1.81 and ranged from 0 to 9 with a median of 3. The mean of stimulated Testosterone / Dihydrotestosterone (T/DHT) ratio was 17.5 (7.8-26) and ranged between 1.5 and 66.6. The median of Anti Mullerian Hormone (AMH) was 56 ng/ ml and ranged between 19.08 and 105 ng/ml. There was correlation between EMS final score and stimulated DHT (r = 0.54, P = 0.000). Of note 6 (12.0%) patients had reconstruction of scrotum, 7 (14%) had undergone inguinal hernia repair, 12 (24%) had undergone correction of hypospadias, 6 (12.0%) bilateral gonadectomy,6 (12.0%) left orchiopexy, 3 (6.0%) right orchiopexy and 10 (20%) bilateral orchiopexy. Conclusion: Due to the overlapping clinical and biochemical parameters in various subsets of DSD, only a preliminary etiological diagnosis can be made in some cases. Genetic examination with long-term follow-up are needed for a precise diagnosis. Management of these patients is multidisciplinary which needs an endocrinologist, gynecologist, psychologist, pediatrician, and clinical geneticist. [ABSTRACT FROM AUTHOR]