Rare variants in growth genes drive unexplained short stature in kids—3,907 genes linked to hormonal and metabolic pathways reveal why some children fail to grow, offering new diagnostic clues.
#Pediatrics #ShortStature
link.springer.com/article/10.1...
Turner Syndrome, Noonan Syndrome, SHOX deficiency. A clinical trial using vosoritide. MAGIC Clinic in Calgary, Alberta, Canada now has site activation for the Biomarin BMN 111-211 study. viperclinicaltrials.com
#turnersyndrome #noonansyndrome #ShortStature
🧠✨ Her body wasn’t broken—just missing the signal to grow.
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#GrowthHormoneDeficiency #DwarfismAwareness #PituitaryGland #ChildGrowthMatters #MedicalReels #HealthEducation #IGF1 #PediatricEndocrinology #ShortStature #HormoneHealth #ScienceReels
Photos: Get It Bloem (Bester)
#ShortStature #LittlePerson #LittlePeople #nursing #ScarletFever
Mitochondrial dysfunction contributes to short stature through complex mechanisms, highlighting the need for early diagnosis and tailored treatment.
#MitochondrialDisease #ShortStature #GrowthDisorders #Pediatrics #rarediseaseday
link.springer.com/article/10.1...
Screensot of Figure 3: Figure 3 Molecular modeling of human SLC13A1 variants. A. Residue Arg237 (R237) is positioned at the intracellular end of transmembrane domain 5 (TM5), and the amphipathic side chain forms H-bonds with Q156 and H544 and contacts with V155, K232, and H544 as well. B. For substitution p.(Arg237Cys) (R237C), almost all contacts and H-bonds are lost, and a reactive cysteine is introduced. C. Residue G448 is located in the middle of TM9, where it makes minimal contact with M72 and S452. D. By contrast, substitution p.(Gly448Asp) (G448D) introduces a new contact with C37 in TM2 and significant clashes with L66 and M72. E. Residue Leu516 (L516) is located in TM10 and forms numerous contacts with F265 and F269 in TM5 and L498, L501, S502, and P512 in TM10. F. Substitution p.(Leu516Pro) (L516P) removes most contacts and introduces clashes with the backbone of the TM10 helix at P512 and L513. G. Tyr582 (Y582) is positioned within the extracellular C terminus of SLC13A1 and makes contacts with the P583 and A586 side chains and the backbone at G506, H509, and A586 and forms an H-bond with P587. H. Substitution p.(Tyr582His) (Y582H) removes all contacts and H-bonds other than with P583.
A novel human skeletal phenotype was found to be caused by biallelic SLC13A1 loss-of-function, with sulfate as a potential measurable biomarker bit.ly/4klq4CY #GIMO #SulfateTransporter #SkeletalDysplasia #Scoliosis #ShortStature #Hyposulfatemia
