Short Stature in Klinefelter Syndrome From Aggrecan Mutation

Antoinette Farrell; Sunitha R Sura

doi:10.1210/jcemcr/luae170

Short Stature in Klinefelter Syndrome From Aggrecan Mutation

JCEM Case Rep. 2024 Oct 3;2(10):luae170. doi: 10.1210/jcemcr/luae170. eCollection 2024 Oct.

Authors

Antoinette Farrell¹, Sunitha R Sura^{1

2}

Affiliations

¹ Department of Pediatrics, University of Connecticut School of Medicine, Hartford, CT 06106, USA.
² Division of Pediatric Endocrinology & Diabetes, Connecticut Children's, Farmington, CT 06032, USA.

Abstract

Despite tall stature being a characteristic feature of Klinefelter syndrome, occasional cases of short stature have been reported. These cases are often attributed to GH deficiency. This case report details a unique case of a 16-year-old male with Klinefelter syndrome exhibiting proportionate short stature resulting from a heterozygous, likely pathogenic, variant in the ACAN gene c.7141G > A (p.Asp2381Asn). This specific variant, previously identified once in a family with a recessive inheritance pattern is reported here for the first time in an individual with Klinefelter syndrome. This report emphasizes the importance of a thorough evaluation and consideration of genetic testing for an underlying diagnosis in short-statured individuals with Klinefelter syndrome. Timely detection would enable appropriate therapeutic interventions.

Keywords: ACAN; Klinefelter syndrome; advanced bone age; aggrecan; growth; short stature.

Publication types

Case Reports