CONGENITAL HYPOTHYROIDISM WITH VARIANT IN LAS1L GENE PRESENTING WITH EARLY-ONSET OBESITY, DYSMORPHISM AND DEVELOPMENTAL DELAY: A CASE REPORT

Authors

  • DR.SUENERA . P.V INSTITUTION -PAEDIATRICS, SAVEETHA MEDICAL COLLEGE AND HOSPITAL, SAVEETHA INSTITUTE OF MEDICAL AND TECHNICALSCIENCES(SIMATS),SAVEETHAUNIVERSITY, CHENNAI ,INDIA
  • DR. NAVINUMAPATHY INSTITUTION -PAEDIATRICS, SAVEETHA MEDICAL COLLEGE AND HOSPITAL, SAVEETHA INSTITUTE OF MEDICAL AND TECHNICALSCIENCES (SIMATS), SAVEETHA UNIVERSITY, CHENNAI, INDIA
  • DR.SYED MOHAMMED H INSTITUTION -PAEDIATRICS, SAVEETHA MEDICAL COLLEGE AND HOSPITAL, SAVEETHA INSTITUTE OF MEDICAL AND TECHNICALSCIENCES (SIMATS), SAVEETHA UNIVERSITY, CHENNAI, INDIA
  • DR.PRADEEP S INSTITUTION -PAEDIATRICS, SAVEETHA MEDICAL COLLEGE AND HOSPITAL, SAVEETHA INSTITUTE OF MEDICAL AND TECHNICALSCIENCES (SIMATS), SAVEETHA UNIVERSITY, CHENNAI, INDIA

Keywords:

Congenital hypothyroidism, obesity, LAS1L gene, Wilson-Turner syndrome, developmental delay, variant of uncertain significance

Abstract

We report the case of a 9-month-old male infant diagnosed with congenital hypothyroidism who presented with significant developmental delay, early-onset obesity, and dysmorphic features. Whole exome sequencing revealed a hemizygous variant of uncertain significance (VUS) in the LAS1L gene associated with Wilson-Turner syndrome. This case highlights the need for integrated genetic, clinical, and developmental evaluation in infants with atypical hypothyroid phenotypes.

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How to Cite

P.V, D. ., NAVINUMAPATHY, D., MOHAMMED H, D., & S, D. (2025). CONGENITAL HYPOTHYROIDISM WITH VARIANT IN LAS1L GENE PRESENTING WITH EARLY-ONSET OBESITY, DYSMORPHISM AND DEVELOPMENTAL DELAY: A CASE REPORT. TPM – Testing, Psychometrics, Methodology in Applied Psychology, 32(S1 (2025): Posted 12 May), 1193–1197. Retrieved from https://tpmap.org/submission/index.php/tpm/article/view/747

Issue

Vol. 32 No. S1 (2025): Posted 12 May (2025): Posted: 12 May 2025

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Articles

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