ABSTRACT
This study explores the relationship between psychological factors and children's BMI, using clustering methods like Gaussian Mixture Models and Spectral Clustering. Affinity Propagation was particularly effective, suggesting that tailored interventions based on psychological assessments could improve obesity management in children.
Subject(s)
Body Mass Index , Pediatric Obesity , Humans , Child , Cluster Analysis , Male , FemaleABSTRACT
OBJECTIVES: To contribute a novel sonic hedgehog (SHH) gene variant in association with a novel-meagerly described phenotype and discuss SHH signaling pathway pathology. CASE PRESENTATION: We present a 5-year-old boy with excessive hyponatremia and natriuresis, microform holoprosencephaly and microsomia, with morphologically intact hypothalamic-pituitary-adrenal (HPA) axis, and hypoaldosteronism, yet without hyperreninemia, hyperkalemia, dehydration episodes, or glucocorticoid insufficiency. Extensive workup excluded common causes of salt-wasting and revealed a novel variant of unknown significance on the sonic hedgehog (SHH) gene; NM_000193.4:c.755_757del (p.Phe252del), in heterozygosity. CONCLUSIONS: Salt-wasting in children is predominantly caused by central nervous system lesions, renal tubular dysfunction, or adrenal insufficiency. The SHH protein is a signaling molecule, essential in embryogenesis-including HPA axis differentiation. Inactivating SHH variants disrupt the signaling pathway, leading to dysplasia or dysfunction of target organs. What's new: ⢠We analyze the patient's phenotype in the light of this novel variant ⢠Patient's isolated aldosterone deficiency possibly implies a selective signaling defect affecting the development of adrenal zona glomerulosa ⢠Unexplained hyporeninemia and hypokalemia in the context of hypoaldosteronism raise questions on SHH signaling pathophysiology.