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Testicular adrenal rest tumours (TARTs) are a common cause of infertility in males with congenital adrenal hyperplasia (CAH). Ovarian adrenal rest tumours (OARTs) and polycystic ovaries (PCO) can impair ovarian function in female patients with CAH. We aim to detect gonadal changes in children and adolescents with CAH. This study was conducted on 50 CAH patients (30 females and 20 males) with 21-hydroxylase deficiency (21-OHD), with a mean age of 10.35 ± 2.36 years. Testicular ultrasonography and pelvic magnetic resonance imaging (MRI) were done in males and females respectively. Glucocorticoid doses and biochemical data were obtained from the patients' medical records. TARTs were detected in 10/20 male patients (50 %). There was a significant relation between presence of TARTs, body mass index (BMI) standard deviation score (SDS), and bone age (p=0.017 and 0.023; respectively). There was no significant relation between presence of TARTs, laboratory parameters, or treatment received (p>0.05). Of those subjected to genetic analysis, 48 % had I2 splice (c.290-13A/C>G) followed by P30L (c.89C>T) (40.7 %). P30L (c.89C>T) was the most common allele among the patients with TARTs (42.9 %). There was no significant relation between presence of TARTs, the genotype, alleles, or the genotype groups (p>0.05). Only one female patient had radiological evidence of bilateral polycystic ovaries and none had OARTs. The prevalence of TARTs in our study was high (50 %). Screening for TARTs in males with CAH is crucial; however, routine ovarian imaging in CAH females is not indicated unless ovarian dysfunction is present. [ABSTRACT FROM AUTHOR]

Background It is unclear whether targeted monitoring of acute adrenal insufficiency (AI) related adverse events (AE) such as sick day episodes (SDEs) and hospitalization rate in congenital adrenal hyperplasia (CAH) is associated with a change in the occurrence of these events. Aim Study temporal trends of AI related AE in the I-CAH Registry. Methods In 2022, data on the occurrence of AI-related AE in children aged <18 years with 21-hydroxylase deficiency CAH were compared to data collected in 2019. Results In 2022, a total of 513 children from 38 centers in 21 countries with a median of 8 children (range 1-58) per center had 2470 visits evaluated over a 3-year period (2019-2022). The median SDE per patient year in 2022 was 0 (0-2.5) compared to 0.3 (0-6) in 2019 (P =.01). Despite adjustment for age, CAH phenotype and duration of study period, a difference in SDE rate was still apparent between the 2 cohorts. Of the 38 centers in the 2022 cohort, 21 had also participated in 2019 and a reduction in SDE rate was noted in 13 (62%), an increase was noted in 3 (14%), and in 5 (24%) the rate remained the same. Of the 474 SDEs reported in the 2022 cohort, 103 (22%) led to hospitalization compared to 299 of 1099 SDEs (27%) in the 2019 cohort (P =.02). Conclusion The I-CAH Registry can be used for targeted monitoring of important clinical benchmarks in CAH. However, changes in reported benchmarks need careful interpretation and longer-term monitoring. [ABSTRACT FROM AUTHOR]

Background: The global prevalence of vitamin D deficiency has been studied thoroughly. Either ergocalciferol (vitamin D2) or cholecalciferol (vitamin D3) supplements treat such deficiency. However, their relative efficacy was explored in many researches. Aim: To compare the effects of vitamin D supplementation with either the enteral or parenteral formulations of cholecalciferol and ergocalciferol on raising serum 25-hydroxyvitamin D levels in children. Methods: This is a randomised controlled clinical trial that included 120 Egyptian school-aged children (5-10 years) randomly selected from the Pediatric outpatient clinic at Ain Shams University Hospitals from January 2021 to December 2022. Sequential randomization allocated the participants into 4 equal groups. Group A: received 10,000 IU of oral ergocalciferol every 4 days for 3 months, Group B: received 2400 IU of oral cholecalciferol daily for 3 months, Group C: received 200,000 IU of intramuscular ergocalciferol once, and Group D: received 200,000 IU of intramuscular cholecalciferol once. serum 25(OH)D was measured at baseline, 1,2, and 3 months after supplementation. Results: The mean ages of the recruited children were 7.40±1.33, 7.40±1.45, 8.28±2.02, and 7.23±1.65 years for groups A, B, C, and D respectively. Injectable vitamin D3 achieved the highest increments in serum 25 (OH) D after 3 months of supplementation followed by injectable vitamin D2, oral vitamin D3 and oral vitamin D2 respectively. 100% of injectable vitamin D3 recipients, 76.7 % of injectable vitamin D2 recipients, 23.3% of oral vitamin D3 recipients and 20 % of oral vitamin D2 recipients achieved sufficient vitamin D levels after 1 month of supplementation. Compliance with oral therapy was assured by asking the patients to return empty bottles. Conclusion: A loading dose of intramuscular vitamin D3 200.000 IU is the most potent, cost-effective and rapid regimen in correcting vitamin D deficiency/insufficiency in children and sustains sufficient 25 (OH) D levels up to 3 months after injection, followed by injectable vitamin D2, oral vitamin D3 and oral vitamin D2 respectively. [ABSTRACT FROM AUTHOR]

Background: Septic shock, a condition caused by a dysregulated host response to systemic infection, may cause life-threatening organ dysfunction. During sepsis, concentrations of corticosteroid-binding globulin (CBG) in the serum progressively decrease. Therefore, the CBG nadir could play a role in septic shock-related organ failure and mortality. Non-thyroidal illness is a non-thyroidal illness syndrome that refers to changes in thyroid function tests in the inpatients of intensive care units having critical illnesses because of transient changes in the hypothalamicpituitary-thyroid axis that can be explained as a homeostatic mechanism to conserve energy. Aim of the Work: to evaluate the relation of serum CBG and thyroid hormone levels to organ dysfunction and mortality rates in pediatric patients with septic shock. Patients and Methods: We conducted a prospective observational study on 91 pediatric patients with proved sepsis during the period from May 2023 to November 2023 at pediatric intensive care unit (PICU) of Ain shams university hospitals, serum CBG level was measured after at least 6 hours of initiation of inotropes. Thyroid hormones were measured for all patients. The primary outcome was overall ICU mortality and morbidity. Secondary outcomes were 28 and 90-day-mortality, need for mechanical ventilation, renal replacement therapy, need for cardiac inotropic support including the dose and duration of cardiac support infusion, and the need for shock dose steroids. Results: Ninety-one patients were included and subdivided into two groups: survivors (42.9%) and non-survivors (57.1%). A cutoff value of 222.3 mg/dl was calculated for serum CBG levels using the Receiver Operating Characteristic curve (ROC) and Interactive Dot Diagram to differentiate between survivors and non-survivors creating a sensitivity and specificity of 98.08 and 3 1.58 % respectively. Primary outcome: The overall ICU mortality rate due to septic shock was significantly higher in patients with serum CBG levels less than 222.3 mg/dl, p-value=0.000. Secondary outcomes: 28-day mortality rates were higher in patients with CBG levels < 222.3 mg/dl, p-value = 0.00. Also, the need for mechanical ventilation was higher in patients with serum CBG levels < 222.3 mg/dl. There was no significant difference between patients with serum CBG levels <222.3 mg/dl and patients with serum CBG levels > 222.3 mg/dl regarding the need for noradrenaline and dopamine use However, patients with serum CBG <222.3 mg/dl needed higher noradrenaline and dopamine doses when used and a higher need for adrenaline and milrinone use, with longer infusion duration. The prevalence of non-thyroidal illness was 46.1%. Patients with non-thyroidal illness (changes in thyroid hormones levels during critical illness without clinical manifestations) had higher SOFA scores. There was no significant difference between the patients with normal thyroid profiles and non-thyroidal illness patients regarding mortality, dose of cardiac inotropic support, or organ dysfunction. Conclusion:Septic shock patients with CBG < 222.3 mg/dl had a higher need for ventilatory support, vasopressors, and 8.4-fold higher ICU mortality. Non-thyroidal illness is common in septic shock patients with higher SOFA scores but is not associated with a higher mortality rate. [ABSTRACT FROM AUTHOR]

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by impaired activity of the enzyme required for cortisol and aldosterone production, resulting in increased adrenal androgen synthesis. Factors affecting fertility in CAH patients include ambiguous genitalia and their complications, excessive androgen secretion, adrenal progesterone hypersecretion, and various psychosocial factors. Serum anti-Müllerian hormone (AMH) level is used to assess ovarian reserve in women. A few data on serum AMH levels in CAH patients are available in the literature. The aim of the study was to evaluate ovarian reserve in a group of post-menarche females diagnosed with CAH by measuring serum AMH level and assessing the number of antral follicles sonographically. A case-control study was conducted on 17 post-pubertal CAH females and 17 age-matched healthy female controls; the mean age of the patient group was 15.09 ± 3.55 years ranging from 11 to 24 years, while the mean age of the control group was 16.04 ± 3.72 years ranging from 12 to 25 years, the mean post-menarchal age of the patients group was 3.29 ± 1.37 years ranging from 1 to 6 years while the mean post-menarchal age of the control group was 4.13 ± 1.62 years ranging from 1 to 9 years. The degree of hirsutism was compared between the two groups according to the modified Ferriman-Gallwey score, clitoral length was assessed using a digital caliber. Serum levels of adrenal androgens in addition to basal levels of serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, progesterone, and serum AMH were measured in both groups. Patients had smaller uterine volumes, and smaller ovarian volumes but a comparable number of antral follicles and comparable serum AMH levels relative to controls. Good compliance with treatment in patients with CAH results in good hormonal control, low risk of PCOS, good fertility parameters, and a good ovarian reserve. [ABSTRACT FROM AUTHOR]

Importance: Testicular adrenal rest tumors (TARTs), often found in male patients with congenital adrenal hyperplasia (CAH), are benign lesions causing testicular damage and infertility. We hypothesize that chronically elevated adrenocorticotropic hormone exposure during early life may promote TART development.Objective: This study aimed to examine the association between commencing adequate glucocorticoid treatment early after birth and TART development. Design and participants: This retrospective multicenter (n = 22) open cohort study collected longitudinal clinical and biochemical data of the first 4 years of life using the I-CAH registry and included 188 male patients (median age 13 years; interquartile range: 10-17) with 21-hydroxylase deficiency (n = 181) or 11-hydroxylase deficiency (n = 7). All patients underwent at least 1 testicular ultrasound. Results: TART was detected in 72 (38%) of the patients. Prevalence varied between centers. When adjusted for CAH phenotype, a delayed CAH diagnosis of >1 year, compared with a diagnosis within 1 month of life, was associated with a 2.6 times higher risk of TART diagnosis. TART onset was not predicted by biochemical disease control or bone age advancement in the first 4 years of life, but increased height standard deviation scores at the end of the 4-year study period were associated with a 27% higher risk of TART diagnosis. Conclusions and relevance: A delayed CAH diagnosis of >1 year vs CAH diagnosis within 1 month after birth was associated with a higher risk of TART development, which may be attributed to poor disease control in early life. [ABSTRACT FROM AUTHOR]

Background: Osteogenesis Imperfecta (OI) refers to a phenotypically and genetically heterogeneous group of Mendelian disorders that typically manifest with increased bone fragility, recurrent fractures, bone deformities, short stature, hearing loss, and joint laxity. Objective: To assess the effect of treatment with bisphosphonates on cardiac and pulmonary functions in patients with Osteogenesis Imperfecta. Patients and Methods: This is a cross-sectional study was conducted on 28 OI patients; echocardiography and pulmonary function tests of these patients were studied at the time of recruitment. Sixteen of the studied subjects had baseline echocardiography conducted before starting bisphosphonate therapy. The effect of bisphosphonate therapy on cardiac anatomy and functions was studied by comparing different echocardiographic parameters before and after bisphosphonate therapy in the studied subjects. Results: Pulmonary function test results showed that ten patients (38.5%) had restrictive lung disease, two patients (7.7%) had mixed obstructive and restrictive lung patterns, and 14 patients (53.8%) had normal pulmonary function tests. Echocardiography of the studied subjects showed that two patients (7.1%) had increased AO/LA ratio, one patient (3.6%) had hypertrophied IVSd, three patients (10.7%) had hypertrophied IVSs, seven patients (25%) had dilated LVEDD, and four patients (14.3%) had dilated LVESD. All patients had normal systolic function. Five patients (17.9%) had mild mitral, tricuspid and aortic valves regurge. A significant decrease in the median aortic z-score and a significant increase in the median z-scores of IVSd, IVSs, LVEDD, LVESD, LVPWs and LVPWd were observed after 12 months of bisphosphonate therapy. Meanwhile, there was no significant difference of mean EF, FS & AO/LA ratio before and after treatment. Two cases had impaired EF at baseline and after treatment EF became normal. Conclusion: OI had variable pathologic cardiac effects as aortic root enlargement, left atrial enlargement and two cases of impaired left ventricular ejection fraction at baseline that became normal after treatment. Otherwise, OI was not reported to have a significant effect apparently on intraventricular septum and left ventricular volumetric parameters in systole or diastole. Bisphosphonate therapy had a significant effect on the score of aortic root and ejection fraction (which improved significantly). However, treatment with bisphosphonates could not protect against the progressive effects of OI on cardiac muscle with time as the percentage of patients with impaired left ventricular volumetric parameters in systole or diastole increased significantly during follow-up. The most common pulmonary disease in OI children was the restrictive pattern and it was explained by the skeletal deformities of the chest wall and spine. [ABSTRACT FROM AUTHOR]

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]