Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of TOE1 in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report.

Pontocerebellar hypoplasia (PCH) is a rare neurodegenerative disorder characterized by hypoplasia of the pons and cerebellum and global developmental delay. Among several PCH types, PCH7 is a characteristic type that manifests with not only brain lesions but also sexual developmental disorders. The causative gene, TOE1, encodes a protein involved in small ribonucleic acid maturation and processing. TOE1 mutation is associated with neuronal survival that causes hypoplasia of the cerebellum and pons. We report the case of a male patient with PCH7, developmental delay, ataxia, micropenis, and undescended testis. Genetic analysis revealed compound heterozygous missense variants (c.955C>T and c.533T>G) in the TOE1 gene.

Adult height in girls with central precocious puberty without gonadotropin-releasing hormone agonist treatment: a retrospective case-control study.

BACKGROUND: The primary aim of this study was to investigate the final adult height (FAH) of girls diagnosed with central precocious puberty (CPP) who were untreated. METHODS: We retrospectively analyzed the medical records of 36 girls diagnosed with CPP between 8 and 9 years of age who did not receive treatment, and 206 girls diagnosed with CPP within the same age range who received gonadotropin-releasing hormone (GnRH) agonist treatment. Midparental height (MPH), predicted adult height (PAH) obtained using height and bone age (BA) at the time of diagnosis (PAH for BA), and PAH obtained using the Bayley-Pinneau method (PAH by BP) were calculated. Additionally, height at the time of growth completion was compared with the predicted height. RESULTS: The FAHs were 160.71±4.56 cm in the untreated group and 159.31±4.26 cm in the treated group. In the untreated group, the FAH was 0.99±4.50 cm shorter than the MPH but 4.29±3.33 cm and 3.46±3.93 cm greater than the PAH for BA and PAH by BP, respectively. CONCLUSION: In children diagnosed with CPP between 8 and 9 years of age who were untreated, FAH was greater than PAH for BA and PAH by BP at the time of diagnosis, indicating that the prognosis of FAH was not poor. Therefore, for girls diagnosed with CPP, it is recommended to consider various conditions, such as pubertal onset, height at diagnosis, BA, peak luteinizing hormone level, predicted height, and speed of puberty, when deciding whether to administer GnRH agonists.

The Effect of Peripheral Nerve Block on Postoperative Delirium in Older Adults Undergoing Hip Surgery: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

This meta-analysis aimed to determine whether peripheral nerve blocks (PNB) reduce postoperative delirium (POD) in elderly patients undergoing hip surgery. This study was registered in the International Prospective Register of Systematic Reviews (PROSPERO; CRD42022328320). The PubMed, EMBASE, Web of Science, and Cochrane Library databases were searched for randomized controlled trials (RCTs) on 26 April 2022. A total of 19 RCTs with 1977 participants were included. Perioperative PNB lowered the POD incidence on the third postoperative day (OR: 0.59, 95% CI [0.40 to 0.87], p = 0.007, I2 = 35%), in patients without underlying cognitive impairment (OR: 0.47, 95% CI [0.30 to 0.74], p = 0.001, I2 = 30%), and when a fascia iliaca compartment block (OR: 0.58, 95% CI [0.37 to 0.91], p = 0.02, I2 = 0%) or a femoral nerve block (OR: 0.33, 95% CI [0.11 to 0.99], p = 0.05, I2 = 66%) were performed. The pain score was also reduced (SMD: -0.83, 95% CI [-1.36 to -0.30], p = 0.002, I2 = 95%) after PNB. Perioperative PNB can lower the POD incidence and pain scores up to the third postoperative day. However, considering the wide variety of PNBs performed, more trials are needed to identify the effects of each PNB on POD.

Effect of gonadotropin-releasing hormone agonist treatment on near final height in girls with central precocious puberty and early puberty.

PURPOSE: The aim of this study was to examine whether gonadotropin-releasing hormone (GnRH) agonist treatment is effective in preserving final height in patients with central precocious puberty (CPP) or early puberty (EP). METHODS: The medical records of 40 patients with CPP and 206 patients with EP who completed GnRH agonist treatment following diagnosis were analyzed retrospectively. Height and height standard deviation (height SDS) scores based on bone age (BA) were measured and calculated at baseline, after treatment completion, and at final follow-up to compare changes within and between groups. Predicted adult height (PAH) was estimated by the height corresponding to height SDS for BA in girls at 18 years 11 months of age based on the growth chart. RESULTS: PAH at baseline did not differ significantly between the CPP group (153.67±4.95) and the EP group (154.77±3.72). In the CPP group, PAH significantly increased at treatment completion (156.01±4.61) and at final follow-up (158.52±6.04) compared to baseline. In the EP group, PAH significantly increased at treatment completion (157.7±3.60) and at final follow-up (159.31±4.26) compared to baseline. The increase in PAH at all timepoints compared to baseline did not significantly differ between the CPP and EP groups. CONCLUSION: Both CPP and EP groups had significantly greater PAH after treatment, with no difference in the amount of increase between groups. These results show that GnRH agonist treatment can help increase final height even in patients diagnosed with EP after the age of 8 years.

Incidence of congenital hypothyroidism by gestational age: a retrospective observational study.

BACKGRUOUND: Congenital hypothyroidism (CH) is the leading cause of preventable physical and intellectual disabilities. This study aimed to assess the incidence and clinical characteristics of CH in newborns. METHODS: We retrospectively reviewed the medical records of all newborns delivered at the Pusan National University Hospital between January 2011 and March 2021. The incidence of CH was compared according to gestational age, birth weight, and small for gestational age (SGA). The patients aged ≥3 years who could not maintain normal thyroid function and required levothyroxine treatment were diagnosed with permanent CH. Logistic regression analysis was performed to compare CH risks. RESULTS: Of 3,722 newborns, 40 were diagnosed with CH (1.07%). Gestational age and birth weight were significantly associated with CH incidence. The odds ratios (ORs) of CH in infants delivered at 32-37, 28-31, and <28 weeks were 2.568 (95% confidence interval [CI], 1.141-5.778), 5.917 (95% CI, 2.264-15.464), and 7.441 (95% CI, 2.617-21.159) times higher, respectively, than those delivered at term. The ORs of CH in infants weighing 1,500-2,499 g, 1,000-1,499 g, and <1,000 g were 4.664 (95% CI, 1.928-11.279), 11.076 (95% CI, 4.089-29.999), and 12.544 (95% CI, 4.350-36.176) times greater, respectively, than those in infants weighing ≥2,500 g. The OR of CH was 6.795 (95% CI, 3.553-13.692) times greater in SGA than in non-SGA infants. CONCLUSION: The CH incidence in South Korea has increased significantly compared with that in the past. Gestational age, birth weight, and SGA were significantly associated with CH incidence.

Clinical and Laboratory Characteristics of Kikuchi-Fujimoto Disease According to Age.

Background: Little information exists regarding the differences in the clinical and laboratory characteristics of Kikuchi-Fujimoto disease (KFD) according to age. Objective: To evaluate the clinical and laboratory characteristics of KFD according to age. Methods: The relevance of sex, age, clinical features, laboratory findings, courses, and follow-up results were retrospectively evaluated in patients diagnosed with KFD at Pusan National University Hospital between 2010 and 2020. Results: Eighty patients (46 children and 34 adults) with a mean age of 21.5 ± 11.8 years (range, 3-49 years) were included in the study. Those aged 10-19 years accounted for the largest number of patients (42.5%). Among children, the male sex ratio was higher, especially for patients aged ≤ 9 years. In adults, the female sex ratio was higher, especially for patients aged 20-29 years. Fever, tenderness in the lymph node, and skin rashes were more common in children, while myalgia and weight loss were more common in adults. In children, the recurrence rate was significantly higher among boys than among girls (15.8 vs. 0.0%, P = 0.001); lower platelet count and higher CRP levels were observed among boys than among girls. EBV and ANA positivity rates were higher in boys than in girls. In adults, the recurrence rate was significantly higher in women than in men (18.2 vs. 0.0%, P = 0.005). ANA positivity rates were higher in women than in men. Conclusion: The clinical features, laboratory findings, and recurrence of KFD may differ depending on age and sex. Clinicians should be aware of this.

Identification of a novel variant in the PHEX gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets.

Familial hypophosphatemic rickets (FHR) is a disorder characterized by phosphate wasting and hypophosphatemia due to defects in renal phosphate transport regulation. There are 4 known inherited forms of FHR that differ in their molecular causes. Very few studies have been conducted that focused on the molecular analysis of FHR in Koreans. Eighteen mutations of the PHEX gene have been identified to this date in Korea. Herein, we report the clinical case of a 24-month-old boy presenting with bowed legs and short stature. The biochemical profile showed hypophosphatemia with decreased tubular reabsorption of phosphate. Several family members were identified with short stature and genu varum. Therefore, he was diagnosed with FHR. To identify the molecular causes of FHR, we performed targeted gene panel sequencing and found a novel hemizygous missense variant, c.1949T>C (p.Leu650Pro), in the PHEX gene. This variant was also detected in the boy's mother who exhibited genu varum and short stature.