Gonul Yardimci

Aim: Pamidronate is the preferred treatment for osteoporosis and hypercalcemia in children. This study examined its safety and effectiveness. Material and Methods: Patients treated with pamidronate for osteoporosis and hypercalcemia were included in the study. Osteoporosis patients received 1 mg/kg/day every three months for three days, while hypercalcemia patients received a single 1 mg/kg dose. Evaluations of height, weight, body mass index, bone mineral density (BMD), fractures, biochemical data, and complications were performed before and at least six months after treatment. Results: Of the 31 patients included in the study, 21 (67.7%) were male and 10 (32.3%) were female, with a mean age of 12.20 ±4.31 years. Secondary osteoporosis was diagnosed in 20 (64.5%) patients, primary osteoporosis associated with osteogenesis imperfecta in seven (22.6%) patients, and hypercalcemia in four (12.9%) patients. The average follow-up period was 11.26 ±4.16 months. The mean BMD before treatment in patients treated with pamidronate for osteoporosis was -3.53 ±1.43, while after treatment it was -1.42 ±1.81 (p<0.001). When comparing the pre- and post-treatment periods, a decrease was observed in the total number of fractures, the number of vertebral fractures, and the number of fractures occurring more than once per year (p<0.001). Complications were observed in six (19,3%) patients but all these side effects were temporary. Conclusion: Pamidronate treatment was administered at varying doses and for differing durations to patients from multiple groups, with no significant differences in efficacy or safety observed. The low complication rates reported are consistent with the literature and substantiate the safety of the treatment.

Persistent low serum alkaline phosphatase (ALP) levels are crucial in identifying genetic disorders such as hypophosphatasia (HPP). This study investigates the causes of low ALP levels in children, aiming to evaluate the demographic and clinical characteristics of those diagnosed with HPP. We evaluated 2243 children and adolescents, ranging from 0 to 19 years old between September 2019 and July 2024, who exhibited at least two ALP levels below the age- and gender-specific lower limit. In the patient group, 95.4% (2140 patients) exhibited transient low ALP levels, while 4.6% (103 patients) showed persistently low levels. In the persistent group, eleven additional medical conditions were identified, excluding HPP, with calorie depletion (anorexia, malnutrition) being the most common cause. The study identified 16 HPP patients (10 females, 6 males) with high phenotypic variability even within the same variants, comprising 0.71% of the whole group. Genetic testing identified 13 pathogenic/likely pathogenic ALPL gene variants (10 heterozygous, 3 homozygous), two of which were novel. Among HPP patients, 56.2% presented with HPP-related symptoms, most commonly short stature. We found a significant negative correlation between total ALP and serum pyridoxal phosphate (PLP) levels (Rho = − 0.55, p = 0.039), but no correlation with urine phosphoethanolamine. Persistently low ALP levels are a vital clinical indicator for a wide range of disorders, especially HPP. This study expands the phenotypic and genotypic profiles of HPP while improving our understanding of the disease in children. Increasing disease awareness, particularly for milder forms, is essential to avoid delayed diagnosis.

Objective: Publications have shown increased rate of precocious puberty and rapidly progressing puberty during the pandemic period. During the pandemic period, obesity has become widespread in children due to sedentary life, an increase in the time spent at home, and prolonged use of mobile devices. Obesity is a significant contributor to early puberty in females.We aimed to investigate whether obesity is a factor in the increase of puberty precocious cases during the pandemic. Material and Methods: In the study, female patients diagnosed with Puberty precocious /Rapidly Progressive Puberty in our clinic were divided into three groups August 2019-February 2020 before the pandemic (Group1-G1), August 2020-February 2021 during the pandemic (online education - Group2-G2), August 2021-February 2022 during the pandemic (face-to-face education -Group3-G3). The groups were retrospectively compared in terms of clinical, laboratory, and imaging findings. Results: A total of 495 female patients were included in the study. There was no difference between the groups in terms of age at the presentation. The most common complaint at presentation in the three groups was thelarche. Also, presentation with combination of thelarche and pubarche was more common in G3, and presentation due to menarche was more common in G2 (p=0.011). No difference was found between the groups regarding body weight SDS, and height SDS. The BMI SDS was 0.69±1 SD for all patients, 0.78±0.94 SD for G1, 0.67±1 SD for G2, and 0.67±1 for G3, and the BMI SDS of the groups were comparable (p=0.630). The majority of patients at the presentation were Breast Tanner stage 3. G2 (9%) and G3 (9%) were presented with Breast Tanner stage 4 at a higher frequency compared to G1 (2%). There was no difference between the groups’ FSH, LH, estradiol, LHRH test peak FSH, peak LH, and LH/FSH values. There was no difference between the bone ages of the groups at the presentation. The uterus size, right and left ovary volumes of G2 and G3 were significantly bigger than those of G1 (p=0.001). No difference was found between the groups in the rates of precocious puberty and rapidly progressing puberty cases. Conclusion: In our study, the age at presentation and BMI were similar pre-pandemic group G1 and during the pandemic, online education (G2) and pandemic face-to-face education (G3). We determined that obesity may not be one of the factors triggering precocious puberty cases during the pandemic period.