Spondylo‐ocular syndrome is a rare autosomal recessive disorder characterized by generalized osteoporosis, hearing loss, visual impairment due to cataract, and platyspondyly. Previous studies have revealed that the syndrome is caused by pathogenic variants in the XYLT2 gene. A patient with spondylo‐ocular syndrome and two heterozygous pathogenic variant in the XYLT2 gene in compound state are described here. The patient presented with osteoporosis, platyspondyly, ocular findings, hearing loss, kyphosis, scoliosis, facial findings, intellectual disability, and undescended testicles. Previous reports of bisphosphonate treatment response were variable, whereas a long‐term follow‐up with bisphosphonate treatment in this case resulted in normalization of vertebral structures. Reporting such cases helps to determine the appropriate genotype–phenotype correlation in patients with XYLT2‐related pathogenesis.
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.
Objectives The Internet, an integral part of modern life, can lead to internet addiction, which negatively affects academic performance, family relationships, and emotional development. This study aimed to evaluate the Internet addiction scores (IAS) during COVID-19 in children with type 1 diabetes mellitus (T1DM) compared with healthy controls. Methods Children with T1DM and healthy controls aged 8–18, were evaluated with the Parent–Child Internet Addiction Test (PCIAT20). Internet addiction scores of the participants were assessed. The relationship between diabetes duration, mean HbA1c level and IAS were also examined in children with T1DM. Results The study included 139 patients with T1DM and 273 controls. The IAS were significantly lower in patients compared with controls (25.28 ± 15.52 vs. 29.69 ± 19.08, p=0.019). There was a weak negative correlation between the duration of diabetes and IAS in children with diabetes (r=−0.21, p=0.021). There was no significant association between IAS and mean HbA1c (r=0.14, p=0.128) or age (r=0.08, p=0.115). Furthermore, there was no statistically significant difference in IAS between children with well-controlled diabetes (n: 17) and those with poorly-controlled diabetes (n: 122) (IAS: 27.1 ± 17.2; 24.8 ± 15.5, p=0.672, respectively). Conclusion Internet addiction scores were lower in patients with T1DM compared with their healthy peers. Unlike previous studies reporting an increase in problematic internet use, the results of the present study did not confirm internet use as a real challenge in front of the diabetes management for the majority of children with T1DM. This result may be attributed to the important role played by families in the management of T1DM.
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