Jacobsen syndrome (JS) is a contiguous gene syndrome resulting from a deletion of chromosome 11q, with various clinical manifestations. A post-term small for gestational age infant was born by normal vaginal delivery without trauma or vacuum extraction. On day 5, right parietotemporal scalp swelling developed, with petechiae on the right cheek and thrombocytopenia (platelets: 63,000/µL). A prominent forehead, wide-set eyes, short and upturned nose were noted. Karyotyping and microarray analysis demonstrated del(11)(q24q25), consistent with Jacobsen syndrome. Brain magnetic resonance imaging (MRI) revealed a huge cephalhematoma. The patient is scheduled to receive periodic evaluations for thrombocytopenia and heart, kidney, abdominal malformations, ophthalmologic and auditory problems. There are lots of newborns with cephalhematoma or petechiae after birth. Not all newborns with these symptoms need evaluations, but if they have these symptoms with suspect features or appearances, we need to go through further evaluations.
Brain ; Cheek ; Forehead ; Gestational Age ; Heart ; Humans ; Infant ; Infant, Newborn ; Jacobsen Distal 11q Deletion Syndrome* ; Karyotyping ; Kidney ; Magnetic Resonance Imaging ; Microarray Analysis ; Nose ; Parturition* ; Purpura ; Scalp ; Thrombocytopenia* ; Vacuum

Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in the kidney were discovered as an additional cause of idiopathic infantile hypercalcemia. This report describes a female infant admitted for evaluation of nephrocalcinosis. She presented with hypercalcemia, hypercalciuria, low intact parathyroid hormone level, and high 1,25-dihydroxyvitamin D3 level. Exome sequencing identified novel compound heterozygous mutations in SLC34A1 (c.1337G>A, c.1483C>T). The patient was treated with fluids for hydration, furosemide, a corticosteroid, and restriction of calcium/vitamin D intake. At the age of 7 months, the patient's calcium level was within the normal range, and hypercalciuria waxed and waned. Renal echogenicity improved on the follow-up ultrasonogram, and developmental delay was not noted. In cases of hypercalcemia with subsequent hypercalciuria, DNA analysis for SLC34A1 gene mutations and CYP24A1 gene mutations should be performed. Further studies are required to obtain long-term data on hypercalciuria and nephrocalcinosis.
Calcitriol ; Calcium ; Dehydration ; DNA ; Exome ; Failure to Thrive ; Female ; Follow-Up Studies ; Furosemide ; Humans ; Hypercalcemia ; Hypercalciuria ; Hypophosphatemia ; Infant ; Kidney ; Nephrocalcinosis ; Parathyroid Hormone ; Reference Values ; Sodium-Phosphate Cotransporter Proteins ; Ultrasonography ; Vitamin D ; Vitamin D3 24-Hydroxylase ; Vomiting

The worldwide incidence of precocious puberty, which is associated with negative health outcomes, is increasing. Several studies have suggested that environmental factors contribute to the development of precocious puberty alongside genetic factors. Some epidemiological studies have provided limited evidence suggesting an association between exposure to air pollution and changes in pubertal development. This systematic review aimed to summarize existing evidence on the association between air pollution exposure and precocious puberty. Following the Preferred Reporting Items for Systematic reviews and Meta-Analyses guidelines, we searched two databases (PubMed and Web of Science) until August 2023. The included studies assessed the association between air pollutant exposure and the risk of precocious puberty, early menarche, or pubertal development. Two authors independently performed study selection and data extraction. A meta-analysis and analysis of the risk of bias were infeasible due to the limited number of studies and the heterogeneity among them. The literature search resulted in 184 studies, from which we included six studies with sample sizes ranging from 437 to 4,074 participants. The studies reported heterogeneous outcomes. Four studies found that increased exposure to air pollution was related to earlier pubertal onset. One study was inconclusive, and another suggested that air pollutant exposure may delay the onset of thelarche. Most studies suggest that exposure to air pollutants accelerates pubertal development; however, the results from the available studies are inconsistent. More extensive and well-designed longitudinal studies are required for a comprehensive understanding of the association between air pollution and precocious puberty.

Humans ; Adolescent ; Pandemics ; Substance-Related Disorders/epidemiology* ; Smoking ; Ethanol ; Republic of Korea/epidemiology* ; Alcohol Drinking/epidemiology*